[ { "record_id": "mondo.0009560", "disease_id": "MONDO:0009560", "recommended_name": "oculotrichoanal syndrome", "synonyms": [ { "id": "MONDO:0009560", "name": "MOTA syndrome" }, { "id": "MONDO:0009560", "name": "Manitoba oculotrichoanal syndrome" }, { "id": "MONDO:0009560", "name": "Marles syndrome" }, { "id": "MONDO:0009560", "name": "Marles-Greenberg-Persaud syndrome" }, { "id": "MONDO:0009560", "name": "MANITOBA oculotrichoanal syndrome" }, { "id": "MONDO:0009560", "name": "MOTA" }, { "id": "MONDO:0009560", "name": "Manitoba Trichoanal syndrome" }, { "id": "MONDO:0009560", "name": "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" }, { "id": "MIM:248450", "name": "Manitoba oculotrichoanal syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009560", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009564", "disease_id": "MONDO:0009564", "recommended_name": "Marden-Walker syndrome", "synonyms": [ { "id": "MONDO:0009564", "name": "Marden Walker Syndrome" }, { "id": "MONDO:0009564", "name": "Marden-Walker syndrome" }, { "id": "MONDO:0009564", "name": "MWKS" }, { "id": "MONDO:0009564", "name": "connective tissue disorder Marden Walker type" }, { "id": "MIM:248700", "name": "Marden-Walker syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009564", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009578", "disease_id": "MONDO:0009578", "recommended_name": "neurocutaneous melanocytosis", "synonyms": [ { "id": "MONDO:0009578", "name": "NCM" }, { "id": "MONDO:0009578", "name": "neurocutaneous melanosis" }, { "id": "MONDO:0009578", "name": "neurocutaneous melanosis, somatic" }, { "id": "MONDO:0009578", "name": "NCMS" }, { "id": "MONDO:0009578", "name": "melanosis, neurocutaneous" }, { "id": "MONDO:0009578", "name": "neurocutaneous melanosis syndrome" }, { "id": "MIM:249400", "name": "Melanosis, neurocutaneous" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009578", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009585", "disease_id": "MONDO:0009585", "recommended_name": "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria", "synonyms": [ { "id": "MONDO:0009585", "name": "3-mercaptopyruvate sulfurtransferase deficiency" }, { "id": "MONDO:0009585", "name": "Ampola syndrome" }, { "id": "MONDO:0009585", "name": "Beta-mercaptolactate cysteine disulfiduria" }, { "id": "MONDO:0009585", "name": "MCDU" }, { "id": "MONDO:0009585", "name": "mercaptolactate-cysteine disulfiduria" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009585", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009588", "disease_id": "MONDO:0009588", "recommended_name": "Langer mesomelic dysplasia", "synonyms": [ { "id": "MONDO:0009588", "name": "Langer mesomelic dysplasia" }, { "id": "MONDO:0009588", "name": "Langer syndrome" }, { "id": "MONDO:0009588", "name": "Langer type mesomelic dysplasia" }, { "id": "MONDO:0009588", "name": "langer mesomelic dysplasia, pseudoautosomal recessive" }, { "id": "MONDO:0009588", "name": "mesomelic dwarfism, Langer type" }, { "id": "MONDO:0009588", "name": "LMD" }, { "id": "MONDO:0009588", "name": "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" }, { "id": "MIM:249700", "name": "Langer mesomelic dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009588", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009597", "disease_id": "MONDO:0009597", "recommended_name": "metaphyseal chondrodysplasia, Spahr type", "synonyms": [ { "id": "MONDO:0009597", "name": "metaphyseal chondrodysplasia, Spahr type" }, { "id": "MONDO:0009597", "name": "MDST" }, { "id": "MONDO:0009597", "name": "Spahr type metaphyseal chondrodysplasia" }, { "id": "MONDO:0009597", "name": "metaphyseal chondrodysplasia Spahr type" }, { "id": "MONDO:0009597", "name": "metaphyseal dysplasia, Spahr type" }, { "id": "MIM:250400", "name": "Metaphyseal dysplasia, Spahr type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009597", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009598", "disease_id": "MONDO:0009598", "recommended_name": "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome", "synonyms": [ { "id": "MONDO:0009598", "name": "RPSKA" }, { "id": "MIM:250410", "name": "Retinitis pigmentosa with or without skeletal anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009598", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009606", "disease_id": "MONDO:0009606", "recommended_name": "methemoglobinemia due to deficiency of methemoglobin reductase", "synonyms": [ { "id": "MONDO:0009606", "name": "methemoglobinemia due to deficiency of methemoglobin reductase" }, { "id": "MONDO:0009606", "name": "methemoglobinemia, type I" }, { "id": "MONDO:0009606", "name": "methemoglobinemia, type II" }, { "id": "MONDO:0009606", "name": "NADH cytochrome B5 reductase deficiency" }, { "id": "MONDO:0009606", "name": "NADH diaphorase deficiency" }, { "id": "MONDO:0009606", "name": "NADH methemoglobin reductase deficiency" }, { "id": "MIM:250800", "name": "Methemoglobinemia CYB5R3-related" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009606", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009607", "disease_id": "MONDO:0009607", "recommended_name": "methionine adenosyltransferase deficiency", "synonyms": [ { "id": "MONDO:0009607", "name": "MAT I/III deficiency" }, { "id": "MONDO:0009607", "name": "MAT deficiency" }, { "id": "MONDO:0009607", "name": "brain demyelination due to methionine adenosyltransferase deficiency" }, { "id": "MONDO:0009607", "name": "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency" }, { "id": "MONDO:0009607", "name": "isolated persistent hypermethioninemia" }, { "id": "MONDO:0009607", "name": "methionine adenosyltransferase deficiency" }, { "id": "MONDO:0009607", "name": "methionine adenosyltransferase deficiency, autosomal recessive" }, { "id": "MIM:250850", "name": "Methionine adenosyltransferase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009607", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009615", "disease_id": "MONDO:0009615", "recommended_name": "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "synonyms": [ { "id": "MONDO:0009615", "name": "MCEE deficiency" }, { "id": "MONDO:0009615", "name": "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" }, { "id": "MONDO:0009615", "name": "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" }, { "id": "MONDO:0009615", "name": "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" }, { "id": "MONDO:0009615", "name": "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" }, { "id": "MIM:251120", "name": "Methylmalonyl-CoA epimerase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009615", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009622", "disease_id": "MONDO:0009622", "recommended_name": "Jawad syndrome", "synonyms": [ { "id": "MONDO:0009622", "name": "Jawad syndrome" }, { "id": "MONDO:0009622", "name": "JWDS" }, { "id": "MONDO:0009622", "name": "microcephaly with mental retardation and digital anomalies" }, { "id": "MIM:251255", "name": "Jawad syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009622", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009625", "disease_id": "MONDO:0009625", "recommended_name": "diencephalic-mesencephalic junction dysplasia syndrome 1", "synonyms": [ { "id": "MONDO:0009625", "name": "DMJDS1" }, { "id": "MONDO:0009625", "name": "microcephaly with spastic quadriplegia" }, { "id": "MONDO:0009625", "name": "MISSBC" }, { "id": "MONDO:0009625", "name": "recessive microcephaly with spastic quadriplegia" }, { "id": "MIM:251280", "name": "Diencephalic-mesencephalic junction dysplasia syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009625", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009633", "disease_id": "MONDO:0009633", "recommended_name": "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma", "synonyms": [ { "id": "MONDO:0009633", "name": "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" }, { "id": "MONDO:0009633", "name": "MSPKA" }, { "id": "MIM:251750", "name": "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009633", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009646", "disease_id": "MONDO:0009646", "recommended_name": "monosomy 7 myelodysplasia and leukemia syndrome 1", "synonyms": [ { "id": "MONDO:0009646", "name": "M7MLS1" }, { "id": "MONDO:0009646", "name": "chromosome 7Q deletion" }, { "id": "MONDO:0009646", "name": "monosomy 7 of bone marrow" }, { "id": "MONDO:0009646", "name": "myelodysplasia and leukaemia syndrome with monosomy 7" }, { "id": "MONDO:0009646", "name": "myelodysplasia and leukemia syndrome with monosomy 7" }, { "id": "MIM:252270", "name": "Monosomy 7 myelodysplasia and leukemia syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009646", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009647", "disease_id": "MONDO:0009647", "recommended_name": "Morquio syndrome C", "synonyms": [ { "id": "MONDO:0009647", "name": "Morquio syndrome C" }, { "id": "MONDO:0009647", "name": "Morquio syndrome type C" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009647", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009694", "disease_id": "MONDO:0009694", "recommended_name": "myeloperoxidase deficiency", "synonyms": [ { "id": "MONDO:0009694", "name": "MPO deficiency" }, { "id": "MONDO:0009694", "name": "myeloperoxidase deficiency" }, { "id": "MONDO:0009694", "name": "MPOD" }, { "id": "MIM:254600", "name": "Myeloperoxidase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009694", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009703", "disease_id": "MONDO:0009703", "recommended_name": "myopathy with abnormal lipid metabolism", "synonyms": [ { "id": "MONDO:0009703", "name": "myopathy with abnormal lipid metabolism" }, { "id": "MONDO:0009703", "name": "LSMFLAD" }, { "id": "MIM:255100", "name": "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009703", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009706", "disease_id": "MONDO:0009706", "recommended_name": "hereditary myopathy with lactic acidosis due to ISCU deficiency", "synonyms": [ { "id": "MONDO:0009706", "name": "ISCU myopathy" }, { "id": "MONDO:0009706", "name": "aconitase deficiency" }, { "id": "MONDO:0009706", "name": "iron-sulfur cluster deficiency myopathy" }, { "id": "MONDO:0009706", "name": "myopathy with exercise intolerance, Swedish type" }, { "id": "MONDO:0009706", "name": "HML" }, { "id": "MONDO:0009706", "name": "myopathy with lactic acidosis, hereditary" }, { "id": "MIM:255125", "name": "Myopathy with exercise intolerance Swedish type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009706", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009714", "disease_id": "MONDO:0009714", "recommended_name": "myosclerosis", "synonyms": [ { "id": "MONDO:0009714", "name": "congenital myosclerosis, LC6wenthal type" }, { "id": "MONDO:0009714", "name": "congenital myosclerosis, Lwenthal type" }, { "id": "MONDO:0009714", "name": "myosclerosis, congenital" }, { "id": "MIM:255600", "name": "Myosclerosis autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009714", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009719", "disease_id": "MONDO:0009719", "recommended_name": "familial atrial myxoma", "synonyms": [ { "id": "MONDO:0009719", "name": "intracardiac myxoma" }, { "id": "MIM:255960", "name": "Intracardiac myxoma" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009719", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009724", "disease_id": "MONDO:0009724", "recommended_name": "nail-patella-like renal disease", "synonyms": [ { "id": "MONDO:0009724", "name": "Salcedo syndrome" }, { "id": "MONDO:0009724", "name": "focal segmental glomerulosclerosis 10" }, { "id": "MONDO:0009724", "name": "nail-patella-like renal disease" }, { "id": "MONDO:0009724", "name": "nail patella like renal disease" }, { "id": "MIM:256020", "name": "Focal segmental glomerulosclerosis 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009724", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009741", "disease_id": "MONDO:0009741", "recommended_name": "neuroblastoma, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0009741", "name": "neuroblastoma, susceptibility to" }, { "id": "MONDO:0009741", "name": "susceptibility to neuroblastoma" }, { "id": "MONDO:0009741", "name": "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" }, { "id": "MIM:256700", "name": "Neuroblastoma 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009741", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009773", "disease_id": "MONDO:0009773", "recommended_name": "odonto-onycho-dermal dysplasia", "synonyms": [ { "id": "MONDO:0009773", "name": "ectodermal dysplasia" }, { "id": "MONDO:0009773", "name": "OODD" }, { "id": "MONDO:0009773", "name": "odontoonychodermal dysplasia" }, { "id": "MIM:257980", "name": "Odonto-onycho-dermal dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009773", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009785", "disease_id": "MONDO:0009785", "recommended_name": "opsismodysplasia", "synonyms": [ { "id": "MONDO:0009785", "name": "opsismodysplasia" }, { "id": "MONDO:0009785", "name": "OPSISMODYSPLASIA" }, { "id": "MONDO:0009785", "name": "OPSMD" }, { "id": "MIM:258480", "name": "Opsismodysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009785", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009789", "disease_id": "MONDO:0009789", "recommended_name": "nonarteritic anterior ischemic optic neuropathy, susceptibility to", "synonyms": [ { "id": "MONDO:0009789", "name": "nonarteritic anterior ischemic optic neuropathy, susceptibility to" }, { "id": "MONDO:0009789", "name": "susceptibility to nonarteritic anterior ischaemic optic neuropathy" }, { "id": "MIM:258660", "name": "Non-arteritic anterior ischemic optic neuropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009789", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009798", "disease_id": "MONDO:0009798", "recommended_name": "Primrose syndrome", "synonyms": [ { "id": "MONDO:0009798", "name": "Primrose syndrome" }, { "id": "MONDO:0009798", "name": "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" }, { "id": "MONDO:0009798", "name": "PRIMS" }, { "id": "MIM:259050", "name": "Primrose syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009798", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009809", "disease_id": "MONDO:0009809", "recommended_name": "multicentric osteolysis, nodulosis, and arthropathy", "synonyms": [ { "id": "MONDO:0009809", "name": "Al-Aqeel Sewairi syndrome" }, { "id": "MONDO:0009809", "name": "MONA" }, { "id": "MONDO:0009809", "name": "MONA, MMP2-related" }, { "id": "MONDO:0009809", "name": "NAO syndrome" }, { "id": "MONDO:0009809", "name": "Torg syndrome" }, { "id": "MONDO:0009809", "name": "Winchester-Torg syndrome" }, { "id": "MONDO:0009809", "name": "multicentric osteolysis, nodulosis and arthropathy, MMP2-related" }, { "id": "MONDO:0009809", "name": "multicentric osteolysis, nodulosis, and arthropathy" }, { "id": "MONDO:0009809", "name": "nodulosis-arthropathy-osteolysis syndrome" }, { "id": "MONDO:0009809", "name": "osteolysis, hereditary multicentric" }, { "id": "MONDO:0009809", "name": "Torg-Winchester syndrome" }, { "id": "MIM:259600", "name": "Multicentric osteolysis, nodulosis, and arthropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009809", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009821", "disease_id": "MONDO:0009821", "recommended_name": "lethal osteosclerotic bone dysplasia", "synonyms": [ { "id": "MONDO:0009821", "name": "RAINE syndrome" }, { "id": "MONDO:0009821", "name": "Raine syndrome" }, { "id": "MONDO:0009821", "name": "lethal osteosclerotic bone dysplasia" }, { "id": "MONDO:0009821", "name": "osteomalacia, sclerosing, with cerebral calcification" }, { "id": "MONDO:0009821", "name": "osteosclerotic bone dysplasia, lethal" }, { "id": "MONDO:0009821", "name": "RNS" }, { "id": "MONDO:0009821", "name": "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" }, { "id": "MIM:259775", "name": "Raine syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009821", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009825", "disease_id": "MONDO:0009825", "recommended_name": "5-oxoprolinase deficiency", "synonyms": [ { "id": "MONDO:0009825", "name": "5-oxoprolinase deficiency" }, { "id": "MONDO:0009825", "name": "5-oxoprolinase deficiency (disease)" }, { "id": "MONDO:0009825", "name": "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder" }, { "id": "MONDO:0009825", "name": "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" }, { "id": "MONDO:0009825", "name": "oxoprolinuria due to oxoprolinase deficiency" }, { "id": "MONDO:0009825", "name": "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" }, { "id": "MONDO:0009825", "name": "5-alpha-oxoprolinase deficiency" }, { "id": "MONDO:0009825", "name": "OPLAHD" }, { "id": "MIM:260005", "name": "5-oxoprolinase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009825", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009839", "disease_id": "MONDO:0009839", "recommended_name": "progressive supranuclear palsy-parkinsonism syndrome", "synonyms": [ { "id": "MONDO:0009839", "name": "PSP-p" }, { "id": "MONDO:0009839", "name": "PSP-parkinsonism" }, { "id": "MONDO:0009839", "name": "supranuclear palsy, progressive atypical" }, { "id": "MONDO:0009839", "name": "atypical PSP" }, { "id": "MONDO:0009839", "name": "progressive supranuclear palsy atypical" }, { "id": "MIM:260540", "name": "Parkinson-dementia syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009839", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009845", "disease_id": "MONDO:0009845", "recommended_name": "pelviscapular dysplasia", "synonyms": [ { "id": "MONDO:0009845", "name": "Cousin syndrome" }, { "id": "MONDO:0009845", "name": "familial pelvis-scapular dysplasia" }, { "id": "MONDO:0009845", "name": "pelviscapular dysplasia" }, { "id": "MONDO:0009845", "name": "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature" }, { "id": "MIM:260660", "name": "Cousin syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009845", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009864", "disease_id": "MONDO:0009864", "recommended_name": "phosphoenolpyruvate carboxykinase deficiency, mitochondrial", "synonyms": [ { "id": "MONDO:0009864", "name": "PEPCK deficiency, mitochondrial" }, { "id": "MONDO:0009864", "name": "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" }, { "id": "MONDO:0009864", "name": "PCKDM" }, { "id": "MONDO:0009864", "name": "PEPCK 2 deficiency" }, { "id": "MONDO:0009864", "name": "PEPCK2" }, { "id": "MONDO:0009864", "name": "phosphoenolpyruvate carboxykinase 2 deficiency" }, { "id": "MIM:261650", "name": "Mitochondrial phosphoenolpyruvate carboxykinase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009864", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009865", "disease_id": "MONDO:0009865", "recommended_name": "glycogen storage disease due to phosphoglycerate mutase deficiency", "synonyms": [ { "id": "MONDO:0009865", "name": "GSD due to phosphoglycerate mutase deficiency" }, { "id": "MONDO:0009865", "name": "GSD type 10" }, { "id": "MONDO:0009865", "name": "PGAM2 glycogen storage disease" }, { "id": "MONDO:0009865", "name": "glycogen storage disease caused by mutation in PGAM2" }, { "id": "MONDO:0009865", "name": "glycogen storage disease type 10" }, { "id": "MONDO:0009865", "name": "glycogenosis due to phosphoglycerate mutase deficiency" }, { "id": "MONDO:0009865", "name": "muscle phosphoglycerate mutase deficiency" }, { "id": "MONDO:0009865", "name": "myopathy due to phosphoglycerate mutase deficiency" }, { "id": "MONDO:0009865", "name": "GSD10" }, { "id": "MONDO:0009865", "name": "GSDX" }, { "id": "MONDO:0009865", "name": "PGAM deficiency" }, { "id": "MONDO:0009865", "name": "Phosphoglycerate mutase deficiency" }, { "id": "MONDO:0009865", "name": "glycogen storage disease X" }, { "id": "MIM:261670", "name": "Glycogen storage disease 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009865", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0009866", "disease_id": "MONDO:0009866", "recommended_name": "phosphoenolpyruvate carboxykinase deficiency, cytosolic", "synonyms": [ { "id": "MONDO:0009866", "name": "phosphoenolpyruvate carboxykinase deficiency, cytosolic" }, { "id": "MONDO:0009866", "name": "PCKDC" }, { "id": "MONDO:0009866", "name": "PEP carboxykinase deficiency" }, { "id": "MONDO:0009866", "name": "PEPCK 1 deficiency" }, { "id": "MONDO:0009866", "name": "phosphoenolpyruvate carboxykinase deficiency" }, { "id": "MONDO:0009866", "name": "phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" }, { "id": "MONDO:0009866", "name": "phosphoenolpyruvate carboxylase deficiency" }, { "id": "MONDO:0009866", "name": "phosphopyruvate carboxylase deficiency" }, { "id": "MIM:261680", "name": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009866", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009871", "disease_id": "MONDO:0009871", "recommended_name": "pili torti-developmental delay-neurological abnormalities syndrome", "synonyms": [ { "id": "MONDO:0009871", "name": "abnormal hair, joint laxity, and developmental delay" }, { "id": "MONDO:0009871", "name": "pili torti developmental delay neurological abnormalities" }, { "id": "MIM:261990", "name": "Abnormal hair, joint laxity, and developmental delay" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009871", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009874", "disease_id": "MONDO:0009874", "recommended_name": "Rabson-Mendenhall syndrome", "synonyms": [ { "id": "MONDO:0009874", "name": "Rabson-Mendenhall syndrome" }, { "id": "MIM:262190", "name": "Rabson-Mendenhall syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009874", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009879", "disease_id": "MONDO:0009879", "recommended_name": "short stature due to growth hormone qualitative anomaly", "synonyms": [ { "id": "MONDO:0009879", "name": "Kowarski syndrome" }, { "id": "MIM:262650", "name": "Kowarski syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009879", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009890", "disease_id": "MONDO:0009890", "recommended_name": "Gillessen-Kaesbach-Nishimura syndrome", "synonyms": [ { "id": "MONDO:0009890", "name": "Gillessen-Kaesbach-Nishimura syndrome" }, { "id": "MONDO:0009890", "name": "GIKANIS" }, { "id": "MIM:263210", "name": "Gillessen-Kaesbach-Nishimura syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009890", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009897", "disease_id": "MONDO:0009897", "recommended_name": "adult polyglucosan body disease", "synonyms": [ { "id": "MONDO:0009897", "name": "APBD" }, { "id": "MONDO:0009897", "name": "APBN" }, { "id": "MONDO:0009897", "name": "polyglucosan body disease, adult" }, { "id": "MONDO:0009897", "name": "polyglucosan body neuropathy, adult form" }, { "id": "MIM:263570", "name": "Polyglucosan body neuropathy, adult form" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009897", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009923", "disease_id": "MONDO:0009923", "recommended_name": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "synonyms": [ { "id": "MONDO:0009923", "name": "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" }, { "id": "MONDO:0009923", "name": "46,XY DSD due to 5-alpha-reductase 2 deficiency" }, { "id": "MONDO:0009923", "name": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" }, { "id": "MONDO:0009923", "name": "5 Alpha steroid reductase 2 deficiency" }, { "id": "MONDO:0009923", "name": "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" }, { "id": "MONDO:0009923", "name": "pseudovaginal perineoscrotal hypospadias" }, { "id": "MONDO:0009923", "name": "steroid 5-alpha-reductase deficiency" }, { "id": "MONDO:0009923", "name": "5-alpha reductase deficiency" }, { "id": "MONDO:0009923", "name": "PPSH" }, { "id": "MIM:264600", "name": "Pseudovaginal perineoscrotal hypospadias" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009923", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009968", "disease_id": "MONDO:0009968", "recommended_name": "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss", "synonyms": [ { "id": "MONDO:0009968", "name": "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" }, { "id": "MONDO:0009968", "name": "distal renal tubular acidosis co-occurrent with sensorineural deafness" }, { "id": "MONDO:0009968", "name": "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" }, { "id": "MONDO:0009968", "name": "renal tubular acidosis, distal, with progressive nerve deafness" }, { "id": "MONDO:0009968", "name": "AR dRTA with deafness" }, { "id": "MONDO:0009968", "name": "AR dRTA with hearing loss" }, { "id": "MONDO:0009968", "name": "autosomal recessive distal renal tubular acidosis with deafness" }, { "id": "MONDO:0009968", "name": "autosomal recessive distal renal tubular acidosis with hearing loss" }, { "id": "MONDO:0009968", "name": "renal tubular acidosis progressive nerve deafness" }, { "id": "MONDO:0009968", "name": "renal tubular acidosis type 1b" }, { "id": "MONDO:0009968", "name": "renal tubular acidosis with deafness" }, { "id": "MIM:267300", "name": "Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009968", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009970", "disease_id": "MONDO:0009970", "recommended_name": "renal tubular dysgenesis of genetic origin", "synonyms": [ { "id": "MONDO:0009970", "name": "genetic renal tubular dysgenesis" }, { "id": "MONDO:0009970", "name": "renal tubular dysgenesis of genetic origin" }, { "id": "MONDO:0009970", "name": "RTD" }, { "id": "MONDO:0009970", "name": "renal tubular dysgenesis" }, { "id": "MIM:267430", "name": "Renal tubular dysgenesis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009970", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0009998", "disease_id": "MONDO:0009998", "recommended_name": "Richieri Costa-Pereira syndrome", "synonyms": [ { "id": "MONDO:0009998", "name": "Richieri Costa-Pereira syndrome" }, { "id": "MONDO:0009998", "name": "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" }, { "id": "MONDO:0009998", "name": "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" }, { "id": "MONDO:0009998", "name": "Richieri Costa Pereira syndrome" }, { "id": "MONDO:0009998", "name": "Richieri-Costa and Pereira form of acrofacial dysostosis" }, { "id": "MONDO:0009998", "name": "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" }, { "id": "MIM:268305", "name": "Richieri-Costa-Pereira syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0009998", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010000", "disease_id": "MONDO:0010000", "recommended_name": "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction", "synonyms": [ { "id": "MONDO:0010000", "name": "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" }, { "id": "MIM:268315", "name": "Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010000", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010011", "disease_id": "MONDO:0010011", "recommended_name": "schizencephaly", "synonyms": [ { "id": "MONDO:0010011", "name": "schizencephaly" }, { "id": "MIM:269160", "name": "Schizencephaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010011", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010027", "disease_id": "MONDO:0010027", "recommended_name": "free sialic acid storage disease, infantile form", "synonyms": [ { "id": "MONDO:0010027", "name": "ISSD" }, { "id": "MONDO:0010027", "name": "sialic acid storage disorder, infantile" }, { "id": "MONDO:0010027", "name": "infantile free sialic acid storage disease" }, { "id": "MONDO:0010027", "name": "infantile sialic acid storage disease" }, { "id": "MONDO:0010027", "name": "infantile sialic acid storage disorder" }, { "id": "MONDO:0010027", "name": "sialuria, infantile form" }, { "id": "MIM:269920", "name": "Infantile sialic acid storage disorder" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010027", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010038", "disease_id": "MONDO:0010038", "recommended_name": "growth delay due to insulin-like growth factor I resistance", "synonyms": [ { "id": "MONDO:0010038", "name": "growth delay due to insulin-like growth factor I resistance" }, { "id": "MONDO:0010038", "name": "resistance to IGF-1" }, { "id": "MONDO:0010038", "name": "IGF-1 resistance" }, { "id": "MONDO:0010038", "name": "IGF1RES" }, { "id": "MONDO:0010038", "name": "Somatomedin end-organ insensitivity to" }, { "id": "MONDO:0010038", "name": "Somatomedin-c resistance to" }, { "id": "MONDO:0010038", "name": "insulin-like growth factor 1 resistance to" }, { "id": "MIM:270450", "name": "Insulin-like growth factor 1 resistance" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010038", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010066", "disease_id": "MONDO:0010066", "recommended_name": "familial isolated congenital asplenia", "synonyms": [ { "id": "MONDO:0010066", "name": "ICAS" }, { "id": "MONDO:0010066", "name": "asplenia, isolated congenital" }, { "id": "MIM:271400", "name": "Asplenia, isolated congenital" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010066", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010252", "disease_id": "MONDO:0010252", "recommended_name": "intellectual disability, X-linked, with panhypopituitarism", "synonyms": [ { "id": "MONDO:0010252", "name": "intellectual developmental disorder, X-linked, with isolated growth hormone deficiency" }, { "id": "MONDO:0010252", "name": "intellectual disability, X-linked, with panhypopituitarism" }, { "id": "MONDO:0010252", "name": "mental retardation, X-linked, with isolated Growth hormone deficiency" }, { "id": "MONDO:0010252", "name": "mental retardation, X-linked, with panhypopituitarism" }, { "id": "MIM:300123", "name": "Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010252", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010275", "disease_id": "MONDO:0010275", "recommended_name": "spondyloepimetaphyseal dysplasia, Bieganski type", "synonyms": [ { "id": "MONDO:0010275", "name": "H-SMD" }, { "id": "MONDO:0010275", "name": "hypomyelination-spondyloepimetaphyseal dysplasia syndrome" }, { "id": "MONDO:0010275", "name": "leukoencephalopathy-SEMD syndrome" }, { "id": "MONDO:0010275", "name": "leukoencephalopathy-metaphyseal chondrodysplasia syndrome" }, { "id": "MONDO:0010275", "name": "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" }, { "id": "MONDO:0010275", "name": "LKMCD" }, { "id": "MONDO:0010275", "name": "SEMD X-linked with mental deterioration" }, { "id": "MONDO:0010275", "name": "leukoencephalopathy with metaphyseal chondrodysplasia" }, { "id": "MONDO:0010275", "name": "spondyloepimetaphyseal dysplasia X-linked with mental deterioration" }, { "id": "MIM:300232", "name": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010275", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010321", "disease_id": "MONDO:0010321", "recommended_name": "autism, susceptibility to, X-linked 1", "synonyms": [ { "id": "MONDO:0010321", "name": "autism susceptibility, X-linked 1" }, { "id": "MONDO:0010321", "name": "autism, susceptibility to, X-linked 1" }, { "id": "MONDO:0010321", "name": "autism, susceptibility to, X-linked type 1" }, { "id": "MONDO:0010321", "name": "AUTSX1" }, { "id": "MIM:300425", "name": "Autism, X-linked 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010321", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010341", "disease_id": "MONDO:0010341", "recommended_name": "autism, susceptibility to, X-linked 2", "synonyms": [ { "id": "MONDO:0010341", "name": "AUTSX2" }, { "id": "MONDO:0010341", "name": "autism susceptibility, X-linked 2, isolated cases, X-linked" }, { "id": "MONDO:0010341", "name": "autism, susceptibility to, X-linked 2" }, { "id": "MONDO:0010341", "name": "autism, susceptibility to, X-linked type 2" }, { "id": "MONDO:0010341", "name": "intellectual developmental disorder, X-linked, Isolated cases, X-linked" }, { "id": "MONDO:0010341", "name": "mental retardation, X-linked" }, { "id": "MIM:300495", "name": "Autism, X-linked 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010341", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010342", "disease_id": "MONDO:0010342", "recommended_name": "autism, susceptibility to, X-linked 3", "synonyms": [ { "id": "MONDO:0010342", "name": "autism susceptibility, X-linked 3" }, { "id": "MONDO:0010342", "name": "autism, susceptibility to, X-linked 3" }, { "id": "MONDO:0010342", "name": "autism, susceptibility to, X-linked type 3" }, { "id": "MONDO:0010342", "name": "AUTSX3" }, { "id": "MIM:300496", "name": "Autism, X-linked 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010342", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010388", "disease_id": "MONDO:0010388", "recommended_name": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "synonyms": [ { "id": "MONDO:0010388", "name": "rolandic epilepsy, impaired intellectual development, and speech dyspraxia" }, { "id": "MONDO:0010388", "name": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" }, { "id": "MONDO:0010388", "name": "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" }, { "id": "MONDO:0010388", "name": "RESDX" }, { "id": "MONDO:0010388", "name": "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked" }, { "id": "MIM:300643", "name": "Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010388", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010440", "disease_id": "MONDO:0010440", "recommended_name": "autism, susceptibility to, X-linked 4", "synonyms": [ { "id": "MONDO:0010440", "name": "autism, susceptibility to, X-linked 4" }, { "id": "MONDO:0010440", "name": "autism, susceptibility to, X-linked 4, X-linked recessive" }, { "id": "MONDO:0010440", "name": "autism, susceptibility to, X-linked type 4" }, { "id": "MONDO:0010440", "name": "AUTSX4" }, { "id": "MONDO:0010440", "name": "X-linked susceptibility to autism-4" }, { "id": "MONDO:0010440", "name": "susceptibility to autism, X-linked" }, { "id": "MIM:300830", "name": "Autism, X-linked 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010440", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010449", "disease_id": "MONDO:0010449", "recommended_name": "autism, susceptibility to, X-linked 5", "synonyms": [ { "id": "MONDO:0010449", "name": "autism, susceptibility to, X-linked 5" }, { "id": "MONDO:0010449", "name": "autism, susceptibility to, X-linked type 5" }, { "id": "MONDO:0010449", "name": "AUTSX5" }, { "id": "MIM:300847", "name": "Autism, X-linked 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010449", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010469", "disease_id": "MONDO:0010469", "recommended_name": "epsilon-trimethyllysine hydroxylase deficiency", "synonyms": [ { "id": "MONDO:0010469", "name": "autism, susceptibility to, X-linked 6, X-linked recessive" }, { "id": "MONDO:0010469", "name": "epsilon-trimethyllysine hydroxylase deficiency" }, { "id": "MONDO:0010469", "name": "AUTSX6" }, { "id": "MONDO:0010469", "name": "TMLHED" }, { "id": "MIM:300872", "name": "Autism, X-linked 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010469", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010497", "disease_id": "MONDO:0010497", "recommended_name": "intellectual disability, X-linked 102", "synonyms": [ { "id": "MONDO:0010497", "name": "DDX3X non-syndromic X-linked intellectual disability" }, { "id": "MONDO:0010497", "name": "intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant" }, { "id": "MONDO:0010497", "name": "intellectual disability, X-linked 102" }, { "id": "MONDO:0010497", "name": "intellectual disability, X-linked type 102" }, { "id": "MONDO:0010497", "name": "mental retardation, X-linked type 102" }, { "id": "MONDO:0010497", "name": "non-syndromic X-linked intellectual disability caused by mutation in DDX3X" }, { "id": "MONDO:0010497", "name": "DDX3X-related intellectual disability" }, { "id": "MONDO:0010497", "name": "MRX102" }, { "id": "MONDO:0010497", "name": "mental retardation, X-linked 102" }, { "id": "MIM:300958", "name": "Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010497", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010500", "disease_id": "MONDO:0010500", "recommended_name": "intellectual disability, X-linked, syndromic 33", "synonyms": [ { "id": "MONDO:0010500", "name": "MRXS33" }, { "id": "MONDO:0010500", "name": "TAF1 X-linked syndromic intellectual disability" }, { "id": "MONDO:0010500", "name": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome" }, { "id": "MONDO:0010500", "name": "X-linked syndromic intellectual disability caused by mutation in TAF1" }, { "id": "MONDO:0010500", "name": "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive" }, { "id": "MONDO:0010500", "name": "intellectual disability, X-linked, syndromic type 33" }, { "id": "MONDO:0010500", "name": "mental retardation, X-linked, syndromic 33" }, { "id": "MONDO:0010500", "name": "mental retardation, X-linked, syndromic type 33" }, { "id": "MIM:300966", "name": "Intellectual developmental disorder, X-linked, syndromic 33" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010500", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010535", "disease_id": "MONDO:0010535", "recommended_name": "Bazex-Dupre-Christol syndrome", "synonyms": [ { "id": "MONDO:0010535", "name": "BDCS" }, { "id": "MONDO:0010535", "name": "Bazex syndrome" }, { "id": "MONDO:0010535", "name": "Bazex syndrome, X-linked dominant" }, { "id": "MONDO:0010535", "name": "Bazex-Dupre-Christol syndrome" }, { "id": "MONDO:0010535", "name": "Bazex-Dupr-Christol syndrome" }, { "id": "MONDO:0010535", "name": "acrokeratosis of Bazex" }, { "id": "MONDO:0010535", "name": "acrokeratosis paraneoplastica" }, { "id": "MONDO:0010535", "name": "acrokeratosis paraneoplastica of Bazex" }, { "id": "MONDO:0010535", "name": "follicular atrophoderma and basal cell carcinomas" }, { "id": "MONDO:0010535", "name": "BZX" }, { "id": "MONDO:0010535", "name": "follicular atrophoderma-basal cell carcinoma syndrome" }, { "id": "MONDO:0010535", "name": "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" }, { "id": "MIM:301845", "name": "Bazex-Dupre-Christol syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010535", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010569", "disease_id": "MONDO:0010569", "recommended_name": "X-linked complicated corpus callosum dysgenesis", "synonyms": [ { "id": "MONDO:0010569", "name": "corpus callosum, partial agenesis of, X-linked recessive" }, { "id": "MONDO:0010569", "name": "X-linked complicated corpus callosum agenesis" }, { "id": "MONDO:0010569", "name": "X-linked partial agenesis of corpus callosum" }, { "id": "MONDO:0010569", "name": "X-linked partial corpus callosum agenesis" }, { "id": "MIM:304100", "name": "Agenesis of the corpus callosum, X-linked, partial" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010569", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010606", "disease_id": "MONDO:0010606", "recommended_name": "hernia, anterior diaphragmatic", "synonyms": [ { "id": "MONDO:0010606", "name": "hernia, anterior diaphragmatic" }, { "id": "MIM:306950", "name": "Diaphragmatic hernia 5, X-linked" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010606", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010640", "disease_id": "MONDO:0010640", "recommended_name": "Leber optic atrophy, susceptibility to", "synonyms": [ { "id": "MONDO:0010640", "name": "Leber hereditary optic neuropathy, modifier of, X-linked dominant" }, { "id": "MONDO:0010640", "name": "Leber optic atrophy, susceptibility to" }, { "id": "MIM:308905", "name": "Leber hereditary optic neuropathy, modifier" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010640", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010730", "disease_id": "MONDO:0010730", "recommended_name": "combined immunodeficiency, X-linked", "synonyms": [ { "id": "MONDO:0010730", "name": "combined immunodeficiency, X-linked" }, { "id": "MONDO:0010730", "name": "combined immunodeficiency, X-linked, moderate, X-linked recessive" }, { "id": "MONDO:0010730", "name": "CIDX" }, { "id": "MIM:312863", "name": "X-linked combined immunodeficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010730", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010740", "disease_id": "MONDO:0010740", "recommended_name": "taurodontism, microdontia, and dens invaginatus", "synonyms": [ { "id": "MONDO:0010740", "name": "taurodontism, microdontia, and dens invaginatus" }, { "id": "MIM:313490", "name": "Taurodontism, microdontia, and dens invaginatus" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010740", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010831", "disease_id": "MONDO:0010831", "recommended_name": "familial caudal dysgenesis", "synonyms": [ { "id": "MONDO:0010831", "name": "Rudd-Klimek syndrome" }, { "id": "MONDO:0010831", "name": "caudal regression" }, { "id": "MONDO:0010831", "name": "familial caudal dysgenesis" }, { "id": "MONDO:0010831", "name": "SDAM" }, { "id": "MONDO:0010831", "name": "caudal dysgenesis familial type" }, { "id": "MONDO:0010831", "name": "caudal dysgenesis syndrome" }, { "id": "MIM:600145", "name": "Sacral defect with anterior meningocele" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010831", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010833", "disease_id": "MONDO:0010833", "recommended_name": "Hirschsprung disease, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0010833", "name": "EDNRB Hirschsprung disease" }, { "id": "MONDO:0010833", "name": "Hirschsprung disease caused by mutation in EDNRB" }, { "id": "MONDO:0010833", "name": "Hirschsprung disease, susceptibility to, 2" }, { "id": "MONDO:0010833", "name": "Hirschsprung disease, susceptibility to, type 2" }, { "id": "MONDO:0010833", "name": "HSCR2" }, { "id": "MONDO:0010833", "name": "Hirschsprung disease type 2" }, { "id": "MIM:600155", "name": "Hirschsprung disease 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010833", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0010853", "disease_id": "MONDO:0010853", "recommended_name": "Helicobacter pylori infection, susceptibility to", "synonyms": [ { "id": "MONDO:0010853", "name": "H. pylori infection, susceptibility to" }, { "id": "MONDO:0010853", "name": "Helicobacter pylori infection, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0010853", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011038", "disease_id": "MONDO:0011038", "recommended_name": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome", "synonyms": [ { "id": "MONDO:0011038", "name": "CAPOS syndrome" }, { "id": "MONDO:0011038", "name": "CAPOS" }, { "id": "MONDO:0011038", "name": "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss" }, { "id": "MONDO:0011038", "name": "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" }, { "id": "MONDO:0011038", "name": "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" }, { "id": "MIM:601338", "name": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011038", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011054", "disease_id": "MONDO:0011054", "recommended_name": "autosomal recessive amelia", "synonyms": [ { "id": "MONDO:0011054", "name": "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" }, { "id": "MIM:601360", "name": "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011054", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011106", "disease_id": "MONDO:0011106", "recommended_name": "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome", "synonyms": [ { "id": "MONDO:0011106", "name": "FDLAB syndrome" }, { "id": "MONDO:0011106", "name": "Traboulsi syndrome" }, { "id": "MONDO:0011106", "name": "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" }, { "id": "MONDO:0011106", "name": "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" }, { "id": "MONDO:0011106", "name": "FDLAB" }, { "id": "MONDO:0011106", "name": "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" }, { "id": "MIM:601552", "name": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011106", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011112", "disease_id": "MONDO:0011112", "recommended_name": "Wilms tumor 5", "synonyms": [ { "id": "MONDO:0011112", "name": "Wilms tumor 5" }, { "id": "MONDO:0011112", "name": "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation" }, { "id": "MONDO:0011112", "name": "Wilms tumor type 5" }, { "id": "MONDO:0011112", "name": "Wilms tumour susceptibility-5, autosomal dominant, somatic mutation" }, { "id": "MONDO:0011112", "name": "Wilms tumour type 5" }, { "id": "MONDO:0011112", "name": "WT5" }, { "id": "MONDO:0011112", "name": "Wilms tumor and radial bilateral aplasia" }, { "id": "MONDO:0011112", "name": "Wilms tumour and radial bilateral aplasia" }, { "id": "MONDO:0011112", "name": "bilateral radial aplasia with Wilms tumor" }, { "id": "MONDO:0011112", "name": "bilateral radial aplasia with Wilms tumour" }, { "id": "MIM:601583", "name": "Hereditary susceptibility to Wilms tumor 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011112", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011134", "disease_id": "MONDO:0011134", "recommended_name": "Curry-Jones syndrome", "synonyms": [ { "id": "MONDO:0011134", "name": "Curry-Jones syndrome, somatic mosaic" }, { "id": "MONDO:0011134", "name": "corpus callosum agenesis-polysyndactyly syndrome" }, { "id": "MONDO:0011134", "name": "curry-Jones syndrome" }, { "id": "MONDO:0011134", "name": "CRJS" }, { "id": "MONDO:0011134", "name": "corpus callosum agenesis polysyndactyly" }, { "id": "MONDO:0011134", "name": "curry Jones syndrome" }, { "id": "MIM:601707", "name": "Curry-Jones syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011134", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011138", "disease_id": "MONDO:0011138", "recommended_name": "systemic lupus erythematosus, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011138", "name": "SLEB1" }, { "id": "MONDO:0011138", "name": "TLR5 systemic lupus erythematosus (disease)" }, { "id": "MONDO:0011138", "name": "susceptibility to systemic lupus erythematosus 1" }, { "id": "MONDO:0011138", "name": "systemic lupus erythematosus (disease) caused by mutation in TLR5" }, { "id": "MONDO:0011138", "name": "systemic lupus erythematosus, resistance to" }, { "id": "MONDO:0011138", "name": "systemic lupus erythematosus, resistance to, 1" }, { "id": "MONDO:0011138", "name": "systemic lupus erythematosus, susceptibility to, 1" }, { "id": "MONDO:0011138", "name": "systemic lupus erythematosus, susceptibility to, type 1" }, { "id": "MIM:601744", "name": "Systemic lupus erythematosus 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011138", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011141", "disease_id": "MONDO:0011141", "recommended_name": "megaloblastic anemia, folate-responsive", "synonyms": [ { "id": "MONDO:0011141", "name": "MEGAF" }, { "id": "MONDO:0011141", "name": "folate level in erythrocytes" }, { "id": "MIM:601775", "name": "Megaloblastic anemia, folate-responsive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011141", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011142", "disease_id": "MONDO:0011142", "recommended_name": "Ehlers-Danlos syndrome, musculocontractural type", "synonyms": [ { "id": "MONDO:0011142", "name": "ATCS" }, { "id": "MONDO:0011142", "name": "CHST14-related EDS" }, { "id": "MONDO:0011142", "name": "CHST14-related Ehlers-Danlos syndrome" }, { "id": "MONDO:0011142", "name": "D4ST1-deficient EDS" }, { "id": "MONDO:0011142", "name": "D4ST1-deficient Ehlers-Danlos syndrome" }, { "id": "MONDO:0011142", "name": "EDS, Kosho type" }, { "id": "MONDO:0011142", "name": "EDS, arthrogryposic type" }, { "id": "MONDO:0011142", "name": "EDS, musculocontractural type" }, { "id": "MONDO:0011142", "name": "Ehlers-Danlos syndrome, Kosho type" }, { "id": "MONDO:0011142", "name": "Ehlers-Danlos syndrome, arthrogryposic type" }, { "id": "MONDO:0011142", "name": "MCEDS" }, { "id": "MONDO:0011142", "name": "adducted thumb-clubfoot syndrome" }, { "id": "MONDO:0011142", "name": "adducted thumbs-arthrogryposis syndrome, Dundar type" }, { "id": "MONDO:0011142", "name": "musculocontractural Ehlers-Danlos syndrome" }, { "id": "MONDO:0011142", "name": "Dundar syndrome" }, { "id": "MONDO:0011142", "name": "EDS6B, formerly" }, { "id": "MONDO:0011142", "name": "EDSMC" }, { "id": "MONDO:0011142", "name": "EDSMC1" }, { "id": "MONDO:0011142", "name": "Ehlers-Danlos syndrome, musculocontractural type 1" }, { "id": "MONDO:0011142", "name": "Ehlers-Danlos syndrome, musculocontractural type, 1" }, { "id": "MONDO:0011142", "name": "Ehlers-Danlos syndrome, type VIB, formerly" }, { "id": "MONDO:0011142", "name": "adducted thumb clubfoot syndrome" }, { "id": "MONDO:0011142", "name": "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" }, { "id": "MONDO:0011142", "name": "adducted thumb-club foot syndrome" }, { "id": "MONDO:0011142", "name": "adducted thumbs Dundar type" }, { "id": "MONDO:0011142", "name": "arthrogryposis, distal, with peculiar facies and hydronephrosis" }, { "id": "MONDO:0011142", "name": "autosomal recessive adducted thumb-club foot syndrome" }, { "id": "MONDO:0011142", "name": "musculocontractural EDS" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011142", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011150", "disease_id": "MONDO:0011150", "recommended_name": "acroosteolysis-keloid-like lesions-premature aging syndrome", "synonyms": [ { "id": "MONDO:0011150", "name": "premature ageing syndrome, Penttinen type" }, { "id": "MONDO:0011150", "name": "premature aging syndrome, Penttinen type" }, { "id": "MONDO:0011150", "name": "PENTT" }, { "id": "MONDO:0011150", "name": "Penttinen-aula syndrome" }, { "id": "MONDO:0011150", "name": "premature ageing syndrome Penttinen type" }, { "id": "MONDO:0011150", "name": "premature aging syndrome Penttinen type" }, { "id": "MONDO:0011150", "name": "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly" }, { "id": "MONDO:0011150", "name": "progeroid syndrome, Penttinen type" }, { "id": "MIM:601812", "name": "Premature aging syndrome, Penttinen type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011150", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011155", "disease_id": "MONDO:0011155", "recommended_name": "vacuolar Neuromyopathy", "synonyms": [ { "id": "MONDO:0011155", "name": "muscular dystrophy with rimmed vacuoles" }, { "id": "MONDO:0011155", "name": "vacuolar Neuromyopathy" }, { "id": "MIM:601846", "name": "Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011155", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011163", "disease_id": "MONDO:0011163", "recommended_name": "malignant hyperthermia, susceptibility to, 5", "synonyms": [ { "id": "MONDO:0011163", "name": "CACNA1S malignant hyperthermia of anaesthesia" }, { "id": "MONDO:0011163", "name": "CACNA1S malignant hyperthermia of anesthesia" }, { "id": "MONDO:0011163", "name": "malignant hyperthermia of anaesthesia caused by mutation in CACNA1S" }, { "id": "MONDO:0011163", "name": "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" }, { "id": "MONDO:0011163", "name": "malignant hyperthermia susceptibility 5" }, { "id": "MONDO:0011163", "name": "malignant hyperthermia, susceptibility to, 5" }, { "id": "MONDO:0011163", "name": "malignant hyperthermia, susceptibility to, type 5" }, { "id": "MONDO:0011163", "name": "MHS5" }, { "id": "MONDO:0011163", "name": "malignant hyperpyrexia susceptibility type 5" }, { "id": "MONDO:0011163", "name": "malignant hyperthermia susceptibility type 5" }, { "id": "MIM:601887", "name": "Malignant hyperthermia 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011163", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011165", "disease_id": "MONDO:0011165", "recommended_name": "glomerulopathy with fibronectin deposits 2", "synonyms": [ { "id": "MONDO:0011165", "name": "FN1 fibronectin glomerulopathy" }, { "id": "MONDO:0011165", "name": "fibronectin glomerulopathy caused by mutation in FN1" }, { "id": "MONDO:0011165", "name": "glomerulopathy with fibronectin deposits 2" }, { "id": "MONDO:0011165", "name": "glomerulopathy with fibronectin deposits type 2" }, { "id": "MONDO:0011165", "name": "GFND2" }, { "id": "MONDO:0011165", "name": "glomerular nephritis familial with fibronectin deposits" }, { "id": "MIM:601894", "name": "Glomerulopathy with fibronectin deposits 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011165", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011169", "disease_id": "MONDO:0011169", "recommended_name": "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome", "synonyms": [ { "id": "MONDO:0011169", "name": "KLICK syndrome" }, { "id": "MONDO:0011169", "name": "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" }, { "id": "MONDO:0011169", "name": "KLICK" }, { "id": "MIM:601952", "name": "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011169", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011178", "disease_id": "MONDO:0011178", "recommended_name": "infantile convulsions and choreoathetosis", "synonyms": [ { "id": "MONDO:0011178", "name": "ICCA syndrome" }, { "id": "MONDO:0011178", "name": "PKD/IC" }, { "id": "MONDO:0011178", "name": "infantile convulsions and choreoathetosis" }, { "id": "MONDO:0011178", "name": "paroxysmal kinesigenic dyskinesia and infantile convulsions" }, { "id": "MONDO:0011178", "name": "ICCA" }, { "id": "MONDO:0011178", "name": "convulsions, familial infantile, with paroxysmal choreoathetosis" }, { "id": "MONDO:0011178", "name": "convulsions, infantile, with paroxysmal choreoathetosis, familial" }, { "id": "MIM:602066", "name": "Convulsions, familial infantile, with paroxysmal choreoathetosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011178", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011191", "disease_id": "MONDO:0011191", "recommended_name": "capillary infantile hemangioma", "synonyms": [ { "id": "MONDO:0011191", "name": "HCI" }, { "id": "MONDO:0011191", "name": "hemangioma, capillary infantile" }, { "id": "MONDO:0011191", "name": "hemangioma, capillary infantile, somatic" }, { "id": "MONDO:0011191", "name": "hemangioma, hereditary capillary" }, { "id": "MONDO:0011191", "name": "hereditary capillary infantile hemangioma" }, { "id": "MIM:602089", "name": "Hemangioma, capillary infantile" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011191", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011202", "disease_id": "MONDO:0011202", "recommended_name": "RHYNS syndrome", "synonyms": [ { "id": "MONDO:0011202", "name": "RHYNS syndrome" }, { "id": "MONDO:0011202", "name": "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" }, { "id": "MIM:602152", "name": "RHYNS syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011202", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011215", "disease_id": "MONDO:0011215", "recommended_name": "osteocraniostenosis", "synonyms": [ { "id": "MONDO:0011215", "name": "Osteocraniosplenic syndrome" }, { "id": "MONDO:0011215", "name": "gracile bone dysplasia" }, { "id": "MONDO:0011215", "name": "osteocraniostenosis" }, { "id": "MONDO:0011215", "name": "GCLEB" }, { "id": "MONDO:0011215", "name": "skeletal dysplasia lethal with gracile bones" }, { "id": "MIM:602361", "name": "Gracile bone dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011215", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011227", "disease_id": "MONDO:0011227", "recommended_name": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "synonyms": [ { "id": "MONDO:0011227", "name": "SAMS syndrome" }, { "id": "MONDO:0011227", "name": "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" }, { "id": "MONDO:0011227", "name": "SAMS" }, { "id": "MONDO:0011227", "name": "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" }, { "id": "MIM:602471", "name": "Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011227", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011234", "disease_id": "MONDO:0011234", "recommended_name": "auriculocondylar syndrome 1", "synonyms": [ { "id": "MONDO:0011234", "name": "Auriculocondylar syndrome 1" }, { "id": "MONDO:0011234", "name": "Auriculocondylar syndrome type 1" }, { "id": "MONDO:0011234", "name": "GNAI3 auriculocondylar syndrome" }, { "id": "MONDO:0011234", "name": "auriculocondylar syndrome caused by mutation in GNAI3" }, { "id": "MONDO:0011234", "name": "ARCND1" }, { "id": "MIM:602483", "name": "Auriculocondylar syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011234", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011237", "disease_id": "MONDO:0011237", "recommended_name": "hyperlipidemia, combined, 1", "synonyms": [ { "id": "MONDO:0011237", "name": "USF1 familial combined hyperlipidemia" }, { "id": "MONDO:0011237", "name": "familial combined hyperlipidemia caused by mutation in USF1" }, { "id": "MONDO:0011237", "name": "hyperlipidemia, combined, 1" }, { "id": "MONDO:0011237", "name": "hyperlipidemia, combined, type 1" }, { "id": "MONDO:0011237", "name": "hyperlipidemia, familial combined, susceptibility to" }, { "id": "MIM:602491", "name": "Hyperlipidemia, familial combined, 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011237", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011240", "disease_id": "MONDO:0011240", "recommended_name": "megalencephaly-capillary malformation-polymicrogyria syndrome", "synonyms": [ { "id": "MONDO:0011240", "name": "MCAP" }, { "id": "MONDO:0011240", "name": "MCM" }, { "id": "MONDO:0011240", "name": "MCMTC" }, { "id": "MONDO:0011240", "name": "Megalencephaly-Capillary Malformation" }, { "id": "MONDO:0011240", "name": "macrocephaly-capillary malformation syndrome" }, { "id": "MONDO:0011240", "name": "macrocephaly-cutis marmorata telangiectatica congenita syndrome" }, { "id": "MONDO:0011240", "name": "megalencephaly-capillary malformation syndrome" }, { "id": "MONDO:0011240", "name": "megalencephaly-capillary malformation-polymicrogyria syndrome" }, { "id": "MONDO:0011240", "name": "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" }, { "id": "MONDO:0011240", "name": "megalencephaly-cutis marmorata telangiectatica congenita syndrome" }, { "id": "MONDO:0011240", "name": "M-CM" }, { "id": "MONDO:0011240", "name": "M-CMTC" }, { "id": "MONDO:0011240", "name": "macrocephaly cutis marmorata telangiectatica congenita" }, { "id": "MONDO:0011240", "name": "megalencephaly cutis marmorata telangiectatica congenita" }, { "id": "MONDO:0011240", "name": "megalocephaly cutis marmorata telangiectatica congenita" }, { "id": "MIM:602501", "name": "Megalencephaly-capillary malformation-polymicrogyria syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011240", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011243", "disease_id": "MONDO:0011243", "recommended_name": "grange syndrome", "synonyms": [ { "id": "MONDO:0011243", "name": "grange occlusive arterial syndrome" }, { "id": "MONDO:0011243", "name": "grange syndrome" }, { "id": "MONDO:0011243", "name": "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" }, { "id": "MONDO:0011243", "name": "GRNG" }, { "id": "MIM:602531", "name": "Grange syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011243", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011245", "disease_id": "MONDO:0011245", "recommended_name": "ichthyosis, hystrix-like, with hearing loss", "synonyms": [ { "id": "MONDO:0011245", "name": "hystrix-like ichthyosis with deafness" }, { "id": "MONDO:0011245", "name": "ichthyosis, hystrix-like, with deafness" }, { "id": "MIM:602540", "name": "Ichthyosis hystrix-like with deafness syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011245", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011252", "disease_id": "MONDO:0011252", "recommended_name": "spondyloepimetaphyseal dysplasia, Shohat type", "synonyms": [ { "id": "MONDO:0011252", "name": "SEMD, Shohat type" }, { "id": "MONDO:0011252", "name": "spondyloepimetaphyseal dysplasia, Shohat type" }, { "id": "MONDO:0011252", "name": "SEMD Shohat type" }, { "id": "MONDO:0011252", "name": "SEMDSH" }, { "id": "MONDO:0011252", "name": "spondyloepimetaphyseal dysplasia Shohat type" }, { "id": "MIM:602557", "name": "Spondyloepimetaphyseal dysplasia, Shohat type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011252", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011313", "disease_id": "MONDO:0011313", "recommended_name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "synonyms": [ { "id": "MONDO:0011313", "name": "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" }, { "id": "MONDO:0011313", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" }, { "id": "MONDO:0011313", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1" }, { "id": "MONDO:0011313", "name": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2" }, { "id": "MONDO:0011313", "name": "MPPH1" }, { "id": "MIM:603387", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011313", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011323", "disease_id": "MONDO:0011323", "recommended_name": "arhinia, choanal atresia, and microphthalmia", "synonyms": [ { "id": "MONDO:0011323", "name": "BAM syndrome" }, { "id": "MONDO:0011323", "name": "BAMS" }, { "id": "MONDO:0011323", "name": "Bosma Arhinia Microphthalmia Syndrome" }, { "id": "MONDO:0011323", "name": "Bosma Henkin Christiansen syndrome" }, { "id": "MONDO:0011323", "name": "Bosma arhinia microphthalmia syndrome" }, { "id": "MONDO:0011323", "name": "Bosma arhinia-microphthalmia syndrome" }, { "id": "MONDO:0011323", "name": "Bosma syndrome" }, { "id": "MONDO:0011323", "name": "Bosma-Henkin-Christiansen syndrome" }, { "id": "MONDO:0011323", "name": "Gifford-Bosma syndrome" }, { "id": "MONDO:0011323", "name": "Ruprecht Majewski syndrome" }, { "id": "MONDO:0011323", "name": "arhinia choanal atresia microphthalmia" }, { "id": "MONDO:0011323", "name": "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" }, { "id": "MONDO:0011323", "name": "arrhinia-choanal atresia-microphthalmia syndrome" }, { "id": "MONDO:0011323", "name": "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" }, { "id": "MONDO:0011323", "name": "congenital absence of nose and anterior nasopharynx" }, { "id": "MIM:603457", "name": "Bosma arhinia microphthalmia syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011323", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011334", "disease_id": "MONDO:0011334", "recommended_name": "limb-mammary syndrome", "synonyms": [ { "id": "MONDO:0011334", "name": "LMS" }, { "id": "MONDO:0011334", "name": "limb-mammary syndrome" }, { "id": "MONDO:0011334", "name": "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" }, { "id": "MIM:603543", "name": "Limb-mammary syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011334", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011361", "disease_id": "MONDO:0011361", "recommended_name": "prostate cancer/brain cancer susceptibility", "synonyms": [ { "id": "MONDO:0011361", "name": "prostate cancer/brain cancer susceptibility" }, { "id": "MONDO:0011361", "name": "prostate cancer/brain cancer susceptibility, somatic" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011361", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011369", "disease_id": "MONDO:0011369", "recommended_name": "hypercholesterolemia, autosomal dominant, 3", "synonyms": [ { "id": "MONDO:0011369", "name": "PCSK9 familial hypercholesterolemia" }, { "id": "MONDO:0011369", "name": "familial hypercholesterolemia caused by mutation in PCSK9" }, { "id": "MONDO:0011369", "name": "hypercholesterolemia, autosomal dominant, 3" }, { "id": "MONDO:0011369", "name": "hypercholesterolemia, autosomal dominant, type 3" }, { "id": "MONDO:0011369", "name": "hypercholesterolemia, familial, 3" }, { "id": "MONDO:0011369", "name": "low density lipoprotein cholesterol level QTL 1" }, { "id": "MONDO:0011369", "name": "HCHOLA3" }, { "id": "MIM:603776", "name": "Hypercholesterolemia, familial, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011369", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011376", "disease_id": "MONDO:0011376", "recommended_name": "ventricular fibrillation, paroxysmal familial, type 1", "synonyms": [ { "id": "MONDO:0011376", "name": "VF1" }, { "id": "MONDO:0011376", "name": "ventricular fibrillation, familial, 1" }, { "id": "MONDO:0011376", "name": "ventricular fibrillation, paroxysmal familial, 1" }, { "id": "MONDO:0011376", "name": "ventricular fibrillation, paroxysmal familial, type 1" }, { "id": "MONDO:0011376", "name": "IVF" }, { "id": "MIM:603829", "name": "Familial paroxysmal ventricular fibrillation 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011376", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011386", "disease_id": "MONDO:0011386", "recommended_name": "microvascular complications of diabetes, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011386", "name": "VEGFA microvascular complications of diabetes, susceptibility" }, { "id": "MONDO:0011386", "name": "microvascular complications of diabetes 1" }, { "id": "MONDO:0011386", "name": "microvascular complications of diabetes, susceptibility caused by mutation in VEGFA" }, { "id": "MONDO:0011386", "name": "microvascular complications of diabetes, susceptibility to, 1" }, { "id": "MONDO:0011386", "name": "microvascular complications of diabetes, susceptibility to, type 1" }, { "id": "MONDO:0011386", "name": "MVCD1" }, { "id": "MIM:603933", "name": "Microvascular complications of diabetes 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011386", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011396", "disease_id": "MONDO:0011396", "recommended_name": "loricrin keratoderma", "synonyms": [ { "id": "MONDO:0011396", "name": "Camisa disease" }, { "id": "MONDO:0011396", "name": "Vohwinkel syndrome with ichthyosis" }, { "id": "MONDO:0011396", "name": "keratoderma hereditarium mutilans with ichthyosis" }, { "id": "MONDO:0011396", "name": "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome" }, { "id": "MONDO:0011396", "name": "loricrin keratoderma" }, { "id": "MIM:604117", "name": "Vohwinkel syndrome with ichthyosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011396", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011398", "disease_id": "MONDO:0011398", "recommended_name": "dystrophic epidermolysis bullosa pruriginosa", "synonyms": [ { "id": "MONDO:0011398", "name": "DEB, pruriginosa" }, { "id": "MONDO:0011398", "name": "DEB-Pr" }, { "id": "MONDO:0011398", "name": "dystrophic epidermolysis bullosa pruriginosa" }, { "id": "MONDO:0011398", "name": "pruriginous dystrophic epidermolysis bullosa" }, { "id": "MIM:604129", "name": "Epidermolysis bullosa pruriginosa" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011398", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011402", "disease_id": "MONDO:0011402", "recommended_name": "congenital cataracts-facial dysmorphism-neuropathy syndrome", "synonyms": [ { "id": "MONDO:0011402", "name": "CCFDN" }, { "id": "MONDO:0011402", "name": "congenital cataracts-facial dysmorphism-neuropathy syndrome" }, { "id": "MONDO:0011402", "name": "congenital cataracts, facial dysmorphism, and neuropathy" }, { "id": "MIM:604168", "name": "Congenital cataracts, facial dysmorphism, and neuropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011402", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011411", "disease_id": "MONDO:0011411", "recommended_name": "Chudley-McCullough syndrome", "synonyms": [ { "id": "MONDO:0011411", "name": "Chudley-McCullough syndrome" }, { "id": "MONDO:0011411", "name": "CMCS" }, { "id": "MONDO:0011411", "name": "deafness, autosomal recessive 82" }, { "id": "MONDO:0011411", "name": "deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction" }, { "id": "MONDO:0011411", "name": "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" }, { "id": "MIM:604213", "name": "Chudley-McCullough syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011411", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011420", "disease_id": "MONDO:0011420", "recommended_name": "short stature due to partial GHR deficiency", "synonyms": [ { "id": "MONDO:0011420", "name": "short stature due to partial growth hormone receptor deficiency" }, { "id": "MONDO:0011420", "name": "GHIP" }, { "id": "MONDO:0011420", "name": "Growth hormone deficiency, isolated, partial" }, { "id": "MONDO:0011420", "name": "Growth hormone, insensitivity to, partial" }, { "id": "MONDO:0011420", "name": "growth hormone insensitivity, partial" }, { "id": "MIM:604271", "name": "Growth hormone insensitivity, partial" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011420", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011431", "disease_id": "MONDO:0011431", "recommended_name": "MASS syndrome", "synonyms": [ { "id": "MONDO:0011431", "name": "MASS phenotype" }, { "id": "MONDO:0011431", "name": "MASS syndrome" }, { "id": "MONDO:0011431", "name": "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings" }, { "id": "MONDO:0011431", "name": "OCTD" }, { "id": "MIM:604308", "name": "Overlap connective tissue disease" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011431", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011450", "disease_id": "MONDO:0011450", "recommended_name": "breast-ovarian cancer, familial, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011450", "name": "BRCA1 hereditary breast ovarian cancer syndrome" }, { "id": "MONDO:0011450", "name": "breast-ovarian cancer, familial, 1, multifactorial" }, { "id": "MONDO:0011450", "name": "breast-ovarian cancer, familial, susceptibility to, 1" }, { "id": "MONDO:0011450", "name": "breast-ovarian cancer, familial, susceptibility to, type 1" }, { "id": "MONDO:0011450", "name": "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" }, { "id": "MONDO:0011450", "name": "BROVCA1" }, { "id": "MIM:604370", "name": "Breast-ovarian cancer, familial, 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011450", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011466", "disease_id": "MONDO:0011466", "recommended_name": "distal myopathy, Welander type", "synonyms": [ { "id": "MONDO:0011466", "name": "WDM" }, { "id": "MONDO:0011466", "name": "Welander distal myopathy" }, { "id": "MONDO:0011466", "name": "Welander distal myopathy, Swedish type" }, { "id": "MONDO:0011466", "name": "distal myopathy, Swedish type" }, { "id": "MIM:604454", "name": "Welander distal myopathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011466", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011472", "disease_id": "MONDO:0011472", "recommended_name": "epidermolysis bullosa simplex due to plakophilin deficiency", "synonyms": [ { "id": "MONDO:0011472", "name": "McGrath syndrome" }, { "id": "MONDO:0011472", "name": "ectodermal dysplasia-skin fragility syndrome" }, { "id": "MONDO:0011472", "name": "ectodermal dysplasia - skin fragility syndrome" }, { "id": "MONDO:0011472", "name": "ectodermal dysplasia skin fragility syndrome" }, { "id": "MIM:604536", "name": "Ectodermal dysplasia-skin fragility syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011472", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011496", "disease_id": "MONDO:0011496", "recommended_name": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis", "synonyms": [ { "id": "MONDO:0011496", "name": "OSCDP" }, { "id": "MONDO:0011496", "name": "osteoarthritis with mild chondrodysplasia" }, { "id": "MIM:604864", "name": "Osteoarthritis with mild chondrodysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011496", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011500", "disease_id": "MONDO:0011500", "recommended_name": "Becker nevus syndrome", "synonyms": [ { "id": "MONDO:0011500", "name": "Becker nevus syndrome" }, { "id": "MONDO:0011500", "name": "pigmentary hairy epidermal nevus" }, { "id": "MONDO:0011500", "name": "hairy epidermal nevus syndrome" }, { "id": "MIM:604919", "name": "Becker nevus syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011500", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011504", "disease_id": "MONDO:0011504", "recommended_name": "NDE1-related microhydranencephaly", "synonyms": [ { "id": "MONDO:0011504", "name": "MHAC" }, { "id": "MONDO:0011504", "name": "microhydranencephaly" }, { "id": "MIM:605013", "name": "Microhydranencephaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011504", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011506", "disease_id": "MONDO:0011506", "recommended_name": "familial infantile myoclonic epilepsy", "synonyms": [ { "id": "MONDO:0011506", "name": "FIME" }, { "id": "MONDO:0011506", "name": "familial infantile myoclonus epilepsy" }, { "id": "MONDO:0011506", "name": "myoclonic epilepsy, infantile, familial" }, { "id": "MONDO:0011506", "name": "myoclonic epilepsy, familial infantile" }, { "id": "MIM:605021", "name": "Familial infantile myoclonic epilepsy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011506", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011510", "disease_id": "MONDO:0011510", "recommended_name": "Bohring-Opitz syndrome", "synonyms": [ { "id": "MONDO:0011510", "name": "Bohring syndrome" }, { "id": "MONDO:0011510", "name": "Bohring-Opitz syndrome" }, { "id": "MONDO:0011510", "name": "Bos syndrome" }, { "id": "MONDO:0011510", "name": "C-like syndrome" }, { "id": "MONDO:0011510", "name": "Oberklaid-Danks syndrome" }, { "id": "MONDO:0011510", "name": "Opitz trigonocephaly-like syndrome" }, { "id": "MONDO:0011510", "name": "BOPS" }, { "id": "MIM:605039", "name": "Bohring-Opitz syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011510", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011517", "disease_id": "MONDO:0011517", "recommended_name": "pseudohyperaldosteronism type 2", "synonyms": [ { "id": "MONDO:0011517", "name": "early-onset hypertension with exacerbation in pregnancy" }, { "id": "MONDO:0011517", "name": "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" }, { "id": "MONDO:0011517", "name": "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" }, { "id": "MIM:605115", "name": "Early-onset hypertension with severe exacerbation in pregnancy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011517", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011518", "disease_id": "MONDO:0011518", "recommended_name": "Wiedemann-Steiner syndrome", "synonyms": [ { "id": "MONDO:0011518", "name": "Wiedemann-Steiner syndrome" }, { "id": "MONDO:0011518", "name": "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" }, { "id": "MONDO:0011518", "name": "A syndrome of abnormal facies, short stature, and psychomotor retardation" }, { "id": "MONDO:0011518", "name": "WDSTS" }, { "id": "MONDO:0011518", "name": "Wiedemann Grosse Dibbern syndrome" }, { "id": "MIM:605130", "name": "Wiedemann-Steiner syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011518", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011554", "disease_id": "MONDO:0011554", "recommended_name": "obsolete deafness, nonsyndromic, modifier 1", "synonyms": [ { "id": "MONDO:0011554", "name": "DFNM1" }, { "id": "MONDO:0011554", "name": "deafness, nonsyndromic, modifier 1" }, { "id": "MONDO:0011554", "name": "DFNB26M" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011554", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011556", "disease_id": "MONDO:0011556", "recommended_name": "basal cell carcinoma, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011556", "name": "BCC1" }, { "id": "MONDO:0011556", "name": "basal cell carcinoma, somatic" }, { "id": "MONDO:0011556", "name": "basal cell carcinoma, susceptibility to, 1" }, { "id": "MONDO:0011556", "name": "multiple basal cell carcinoma" }, { "id": "MIM:605462", "name": "Basal cell carcinoma" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011556", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011571", "disease_id": "MONDO:0011571", "recommended_name": "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "synonyms": [ { "id": "MONDO:0011571", "name": "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" }, { "id": "MONDO:0011571", "name": "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" }, { "id": "MONDO:0011571", "name": "deafness, autosomal dominant 39, with dentinogenesis" }, { "id": "MIM:605594", "name": "Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011571", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011604", "disease_id": "MONDO:0011604", "recommended_name": "spondylo-ocular syndrome", "synonyms": [ { "id": "MONDO:0011604", "name": "SOS" }, { "id": "MONDO:0011604", "name": "spondyloocular syndrome" }, { "id": "MIM:605822", "name": "Spondyloocular syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011604", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011624", "disease_id": "MONDO:0011624", "recommended_name": "transaldolase deficiency", "synonyms": [ { "id": "MONDO:0011624", "name": "TALDO deficiency" }, { "id": "MONDO:0011624", "name": "transaldolase deficiency" }, { "id": "MIM:606003", "name": "Transaldolase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011624", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011627", "disease_id": "MONDO:0011627", "recommended_name": "intellectual developmental disorder with autism and speech delay", "synonyms": [ { "id": "MONDO:0011627", "name": "AUTS5" }, { "id": "MONDO:0011627", "name": "autism, susceptibility to, 5" }, { "id": "MONDO:0011627", "name": "autism-related speech delay" }, { "id": "MONDO:0011627", "name": "intellectual developmental disorder with autism and speech delay" }, { "id": "MONDO:0011627", "name": "phrase speech delay, autism-related" }, { "id": "MIM:606053", "name": "Intellectual developmental disorder with autism and speech delay" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011627", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011640", "disease_id": "MONDO:0011640", "recommended_name": "genitopatellar syndrome", "synonyms": [ { "id": "MONDO:0011640", "name": "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome" }, { "id": "MONDO:0011640", "name": "genitopatellar syndrome" }, { "id": "MONDO:0011640", "name": "GTPTS" }, { "id": "MONDO:0011640", "name": "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" }, { "id": "MIM:606170", "name": "Genitopatellar syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011640", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011650", "disease_id": "MONDO:0011650", "recommended_name": "atrioventricular septal defect, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0011650", "name": "CRELD1 atrioventricular septal defect" }, { "id": "MONDO:0011650", "name": "atrioventricular septal defect caused by mutation in CRELD1" }, { "id": "MONDO:0011650", "name": "atrioventricular septal defect, susceptibility to, 2" }, { "id": "MONDO:0011650", "name": "atrioventricular septal defect, susceptibility to, type 2" }, { "id": "MONDO:0011650", "name": "AVSD2" }, { "id": "MIM:606217", "name": "Atrioventricular septal defect 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011650", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011651", "disease_id": "MONDO:0011651", "recommended_name": "intellectual disability, short stature, facial anomalies, and joint dislocations", "synonyms": [ { "id": "MONDO:0011651", "name": "intellectual developmental disorder with short stature, facial anomalies, and speech defects" }, { "id": "MONDO:0011651", "name": "mental retardation, short stature, facial anomalies, and JOINT dislocations" }, { "id": "MIM:606220", "name": "Intellectual developmental disorder with short stature, facial anomalies, and speech defects" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011651", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011663", "disease_id": "MONDO:0011663", "recommended_name": "juvenile primary lateral sclerosis", "synonyms": [ { "id": "MONDO:0011663", "name": "JPLS" }, { "id": "MONDO:0011663", "name": "juvenile PLS" }, { "id": "MONDO:0011663", "name": "PLS juvenile" }, { "id": "MONDO:0011663", "name": "PLSJ" }, { "id": "MONDO:0011663", "name": "primary lateral sclerosis, juvenile" }, { "id": "MIM:606353", "name": "Juvenile primary lateral sclerosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011663", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011684", "disease_id": "MONDO:0011684", "recommended_name": "vitiligo-associated multiple autoimmune disease susceptibility 1", "synonyms": [ { "id": "MONDO:0011684", "name": "vitiligo-associated multiple autoimmune disease susceptibility 1" }, { "id": "MONDO:0011684", "name": "vitiligo-associated multiple autoimmune disease susceptibility type 1" }, { "id": "MONDO:0011684", "name": "VAMAS1" }, { "id": "MIM:606579", "name": "Vitiligo-associated multiple autoimmune disease 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011684", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011685", "disease_id": "MONDO:0011685", "recommended_name": "polysubstance abuse, susceptibility to", "synonyms": [ { "id": "MONDO:0011685", "name": "polysubstance abuse, susceptibility to" }, { "id": "MONDO:0011685", "name": "PSAB" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011685", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011693", "disease_id": "MONDO:0011693", "recommended_name": "glaucoma, normal tension, susceptibility to", "synonyms": [ { "id": "MONDO:0011693", "name": "glaucoma, normal tension, susceptibility to" }, { "id": "MONDO:0011693", "name": "NTG" }, { "id": "MIM:606657", "name": "Glaucoma, normal pressure" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011693", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011703", "disease_id": "MONDO:0011703", "recommended_name": "spongiform encephalopathy with neuropsychiatric features", "synonyms": [ { "id": "MONDO:0011703", "name": "spongiform encephalopathy with neuropsychiatric features" }, { "id": "MIM:606688", "name": "Spongiform encephalopathy with neuropsychiatric features" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011703", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011713", "disease_id": "MONDO:0011713", "recommended_name": "melanoma-pancreatic cancer syndrome", "synonyms": [ { "id": "MONDO:0011713", "name": "melanoma-pancreatic cancer syndrome" }, { "id": "MIM:606719", "name": "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011713", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011714", "disease_id": "MONDO:0011714", "recommended_name": "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome", "synonyms": [ { "id": "MONDO:0011714", "name": "lipodystrophy, familial partial, type 7" }, { "id": "MONDO:0011714", "name": "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" }, { "id": "MONDO:0011714", "name": "LCCNS" }, { "id": "MIM:606721", "name": "Lipodystrophy, familial partial, 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011714", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011723", "disease_id": "MONDO:0011723", "recommended_name": "hemifacial myohyperplasia", "synonyms": [ { "id": "MONDO:0011723", "name": "hemifacial myohyperplasia" }, { "id": "MONDO:0011723", "name": "HMH" }, { "id": "MONDO:0011723", "name": "hypertrophy and asymmetry of the facial muscles" }, { "id": "MIM:606773", "name": "Hemifacial myohyperplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011723", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011725", "disease_id": "MONDO:0011725", "recommended_name": "Crigler-Najjar syndrome type 2", "synonyms": [ { "id": "MONDO:0011725", "name": "Arias syndrome" }, { "id": "MONDO:0011725", "name": "UGT deficiency type 2" }, { "id": "MONDO:0011725", "name": "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" }, { "id": "MONDO:0011725", "name": "bilirubin-UGT deficiency type 2" }, { "id": "MONDO:0011725", "name": "hereditary unconjugated hyperbilirubinemia type 2" }, { "id": "MONDO:0011725", "name": "Crigler Najjar syndrome, type 2" }, { "id": "MIM:606785", "name": "Crigler-Najjar syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011725", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011732", "disease_id": "MONDO:0011732", "recommended_name": "familial digital arthropathy-brachydactyly", "synonyms": [ { "id": "MONDO:0011732", "name": "FDAB" }, { "id": "MONDO:0011732", "name": "digital arthropathy-brachydactyly, familial" }, { "id": "MIM:606835", "name": "Digital arthropathy-brachydactyly, familial" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011732", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011739", "disease_id": "MONDO:0011739", "recommended_name": "pancreatic cancer, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011739", "name": "PALLD familial pancreatic carcinoma" }, { "id": "MONDO:0011739", "name": "familial pancreatic carcinoma caused by mutation in PALLD" }, { "id": "MONDO:0011739", "name": "pancreatic cancer, susceptibility to, 1" }, { "id": "MONDO:0011739", "name": "pancreatic cancer, susceptibility to, type 1" }, { "id": "MIM:606856", "name": "Pancreatic cancer 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011739", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011744", "disease_id": "MONDO:0011744", "recommended_name": "primary intraosseous venous malformation", "synonyms": [ { "id": "MONDO:0011744", "name": "intraosseous hemangioma" }, { "id": "MONDO:0011744", "name": "osseous venous malformation" }, { "id": "MIM:606893", "name": "Vascular malformation, primary intraosseous" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011744", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011778", "disease_id": "MONDO:0011778", "recommended_name": "multiple epiphyseal dysplasia, Al-Gazali type", "synonyms": [ { "id": "MONDO:0011778", "name": "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" }, { "id": "MONDO:0011778", "name": "AGBK" }, { "id": "MIM:607131", "name": "Al-Gazali-Bakalinova syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011778", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011790", "disease_id": "MONDO:0011790", "recommended_name": "Amish lethal microcephaly", "synonyms": [ { "id": "MONDO:0011790", "name": "Amish lethal microcephaly" }, { "id": "MONDO:0011790", "name": "MCPHA" }, { "id": "MONDO:0011790", "name": "microcephaly, Amish type" }, { "id": "MIM:607196", "name": "Microcephaly, Amish type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011790", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011797", "disease_id": "MONDO:0011797", "recommended_name": "infantile-onset ascending hereditary spastic paralysis", "synonyms": [ { "id": "MONDO:0011797", "name": "IAHSP" }, { "id": "MONDO:0011797", "name": "spastic paralysis, infantile onset ascending" }, { "id": "MONDO:0011797", "name": "spastic paralysis, infantile-onset ascending" }, { "id": "MIM:607225", "name": "Infantile-onset ascending spastic paralysis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011797", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011805", "disease_id": "MONDO:0011805", "recommended_name": "asthma-related traits, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011805", "name": "PTGDR inherited susceptibility to asthma" }, { "id": "MONDO:0011805", "name": "asthma, susceptibility to, 1" }, { "id": "MONDO:0011805", "name": "asthma-related traits, susceptibility to, 1" }, { "id": "MONDO:0011805", "name": "asthma-related traits, susceptibility to, type 1" }, { "id": "MONDO:0011805", "name": "inherited susceptibility to asthma caused by mutation in PTGDR" }, { "id": "MONDO:0011805", "name": "AS1" }, { "id": "MONDO:0011805", "name": "ASRT1" }, { "id": "MIM:607277", "name": "Asthma-related traits 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011805", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011806", "disease_id": "MONDO:0011806", "recommended_name": "osteofibrous dysplasia", "synonyms": [ { "id": "MONDO:0011806", "name": "Kempson-Campanacci lesion" }, { "id": "MONDO:0011806", "name": "OFD" }, { "id": "MONDO:0011806", "name": "OSFD" }, { "id": "MONDO:0011806", "name": "cortical fibrous dysplasia" }, { "id": "MONDO:0011806", "name": "ossifying fibroma of long bones" }, { "id": "MONDO:0011806", "name": "osteofibrous dysplasia" }, { "id": "MONDO:0011806", "name": "osteofibrous dysplasia of bone" }, { "id": "MONDO:0011806", "name": "tibia, bowing of, with pseudarthrosis and pectus excavatum" }, { "id": "MIM:607278", "name": "Osteofibrous dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011806", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011816", "disease_id": "MONDO:0011816", "recommended_name": "lathosterolosis", "synonyms": [ { "id": "MONDO:0011816", "name": "lathosterolosis" }, { "id": "MONDO:0011816", "name": "sterol C5-desaturase deficiency" }, { "id": "MIM:607330", "name": "Lathosterolosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011816", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011818", "disease_id": "MONDO:0011818", "recommended_name": "isolated focal cortical dysplasia type II", "synonyms": [ { "id": "MONDO:0011818", "name": "FCD type II" }, { "id": "MONDO:0011818", "name": "cortical dysplasia, Taylor type" }, { "id": "MONDO:0011818", "name": "focal cortical dysplasia, type II, somatic" }, { "id": "MONDO:0011818", "name": "isolated focal cortical dysplasia type 2" }, { "id": "MONDO:0011818", "name": "CDT" }, { "id": "MONDO:0011818", "name": "FCDT" }, { "id": "MONDO:0011818", "name": "FCORD2" }, { "id": "MONDO:0011818", "name": "cortical dysplasia of Taylor" }, { "id": "MONDO:0011818", "name": "focal cortical dysplasia of Taylor" }, { "id": "MONDO:0011818", "name": "focal cortical dysplasia type 2" }, { "id": "MONDO:0011818", "name": "focal cortical dysplasia type II" }, { "id": "MIM:607341", "name": "Focal cortical dysplasia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011818", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011823", "disease_id": "MONDO:0011823", "recommended_name": "developmental malformations-deafness-dystonia syndrome", "synonyms": [ { "id": "MONDO:0011823", "name": "DJO" }, { "id": "MONDO:0011823", "name": "dystonia, juvenile-onset" }, { "id": "MONDO:0011823", "name": "juvenile-onset dystonia" }, { "id": "MIM:607371", "name": "Dystonia-deafness syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011823", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011853", "disease_id": "MONDO:0011853", "recommended_name": "Camptosynpolydactyly, complex", "synonyms": [ { "id": "MONDO:0011853", "name": "camptosynpolydactyly, complex" }, { "id": "MONDO:0011853", "name": "CCSPD" }, { "id": "MONDO:0011853", "name": "camptopolydactyly, disorganisation type" }, { "id": "MIM:607539", "name": "Camptosynpolydactyly, complex" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011853", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011874", "disease_id": "MONDO:0011874", "recommended_name": "neonatal ichthyosis-sclerosing cholangitis syndrome", "synonyms": [ { "id": "MONDO:0011874", "name": "IHSC" }, { "id": "MONDO:0011874", "name": "NISCH syndrome" }, { "id": "MONDO:0011874", "name": "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" }, { "id": "MONDO:0011874", "name": "neonatal ichthyosis-sclerosing cholangitis syndrome" }, { "id": "MONDO:0011874", "name": "ILVASC" }, { "id": "MIM:607626", "name": "Ichthyosis-sclerosing cholangitis neonatal syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011874", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011888", "disease_id": "MONDO:0011888", "recommended_name": "immunodeficiency 67", "synonyms": [ { "id": "MONDO:0011888", "name": "IRAK4 deficiency" }, { "id": "MONDO:0011888", "name": "immunodeficiency 67" }, { "id": "MONDO:0011888", "name": "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" }, { "id": "MONDO:0011888", "name": "invasive pneumococcal disease, recurrent isolated, 1" }, { "id": "MONDO:0011888", "name": "invasive pneumococcal disease, recurrent isolated, type 1" }, { "id": "MONDO:0011888", "name": "IPD1" }, { "id": "MONDO:0011888", "name": "IRAK-4 deficiency" }, { "id": "MONDO:0011888", "name": "IRAK4D" }, { "id": "MONDO:0011888", "name": "Interleukin receptor-associated kinase deficiency" }, { "id": "MIM:607676", "name": "Immunodeficiency 67" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011888", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011895", "disease_id": "MONDO:0011895", "recommended_name": "idiopathic hypereosinophilic syndrome", "synonyms": [ { "id": "MONDO:0011895", "name": "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" }, { "id": "MONDO:0011895", "name": "HES" }, { "id": "MONDO:0011895", "name": "hypereosinophilic syndrome, idiopathic" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011895", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011896", "disease_id": "MONDO:0011896", "recommended_name": "Parkinson disease 11, autosomal dominant, susceptibility to", "synonyms": [ { "id": "MONDO:0011896", "name": "GIGYF2 hereditary late onset Parkinson disease" }, { "id": "MONDO:0011896", "name": "Parkinson disease 11" }, { "id": "MONDO:0011896", "name": "Parkinson disease 11, autosomal dominant, susceptibility to" }, { "id": "MONDO:0011896", "name": "hereditary late onset Parkinson disease caused by mutation in GIGYF2" }, { "id": "MONDO:0011896", "name": "PARK11" }, { "id": "MIM:607688", "name": "Parkinson disease 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011896", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011919", "disease_id": "MONDO:0011919", "recommended_name": "autoimmune disease, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0011919", "name": "FOXD3 autoimmune disease" }, { "id": "MONDO:0011919", "name": "autoimmune disease caused by mutation in FOXD3" }, { "id": "MONDO:0011919", "name": "autoimmune disease, susceptibility to, 1" }, { "id": "MONDO:0011919", "name": "autoimmune disease, susceptibility to, type 1" }, { "id": "MONDO:0011919", "name": "AIS1" }, { "id": "MIM:607836", "name": "Autoimmune disease 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011919", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011921", "disease_id": "MONDO:0011921", "recommended_name": "aural atresia, congenital", "synonyms": [ { "id": "MONDO:0011921", "name": "aural atresia, congenital" }, { "id": "MONDO:0011921", "name": "CAA" }, { "id": "MIM:607842", "name": "Aural atresia, congenital" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011921", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011922", "disease_id": "MONDO:0011922", "recommended_name": "nonimmune chronic idiopathic neutropenia of adults", "synonyms": [ { "id": "MONDO:0011922", "name": "NI-CINA" }, { "id": "MONDO:0011922", "name": "adult idiopathic neutropenia" }, { "id": "MONDO:0011922", "name": "neutropenia, nonimmune chronic idiopathic, of adults" }, { "id": "MONDO:0011922", "name": "nonimmune chronic idiopathic neutropenia of adults" }, { "id": "MIM:607847", "name": "Dominant nonimmune chronic idiopathic neutropenia of adults" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011922", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011923", "disease_id": "MONDO:0011923", "recommended_name": "osteoarthritis susceptibility 3", "synonyms": [ { "id": "MONDO:0011923", "name": "ASPN osteoarthritis" }, { "id": "MONDO:0011923", "name": "osteoarthritis caused by mutation in ASPN" }, { "id": "MONDO:0011923", "name": "osteoarthritis susceptibility 3" }, { "id": "MONDO:0011923", "name": "osteoarthritis susceptibility type 3" }, { "id": "MONDO:0011923", "name": "OS3" }, { "id": "MIM:607850", "name": "Osteoarthritis 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011923", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011928", "disease_id": "MONDO:0011928", "recommended_name": "caudal duplication", "synonyms": [ { "id": "MONDO:0011928", "name": "dipygus" }, { "id": "MONDO:0011928", "name": "split notochord syndrome" }, { "id": "MIM:607864", "name": "Caudal duplication anomaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011928", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011939", "disease_id": "MONDO:0011939", "recommended_name": "Spondyloenchondrodysplasia with immune dysregulation", "synonyms": [ { "id": "MONDO:0011939", "name": "Roifman Immunoskeletal syndrome" }, { "id": "MONDO:0011939", "name": "SPENCD" }, { "id": "MONDO:0011939", "name": "SPENCDI" }, { "id": "MONDO:0011939", "name": "Spondyloenchondrodysplasia with immune dysregulation" }, { "id": "MONDO:0011939", "name": "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" }, { "id": "MONDO:0011939", "name": "spondyloenchondrodysplasia" }, { "id": "MONDO:0011939", "name": "spondyloenchondrodysplasia with immune dysregulation" }, { "id": "MONDO:0011939", "name": "spondyloenchondromatosis" }, { "id": "MONDO:0011939", "name": "spondylometaphyseal dysplasia with combined immunodeficiency" }, { "id": "MONDO:0011939", "name": "spondylometaphyseal dysplasia with enchondromatous changes" }, { "id": "MONDO:0011939", "name": "SEM" }, { "id": "MIM:607944", "name": "Spondyloenchondrodysplasia with immune dysregulation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011939", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011946", "disease_id": "MONDO:0011946", "recommended_name": "diaphanospondylodysostosis", "synonyms": [ { "id": "MONDO:0011946", "name": "diaphanospondylodysostosis" }, { "id": "MONDO:0011946", "name": "vertebral ossification, defect in, with nephrogenic rests" }, { "id": "MIM:608022", "name": "Diaphanospondylodysostosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011946", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011953", "disease_id": "MONDO:0011953", "recommended_name": "familial acute necrotizing encephalopathy", "synonyms": [ { "id": "MONDO:0011953", "name": "ADANE" }, { "id": "MONDO:0011953", "name": "encephalopathy, acute, infection-induced, 3, susceptibility to" }, { "id": "MONDO:0011953", "name": "encephalopathy, acute, infection-induced, susceptibility to, type 3" }, { "id": "MONDO:0011953", "name": "recurrent acute necrotizing encephalopathy" }, { "id": "MONDO:0011953", "name": "ANE1" }, { "id": "MONDO:0011953", "name": "IIAE3" }, { "id": "MONDO:0011953", "name": "Postinfectious acute necrotizing hemorrhagic encephalopathy" }, { "id": "MONDO:0011953", "name": "acute necrotizing encephalopathy type 1" }, { "id": "MONDO:0011953", "name": "autosomal dominant acute necrotizing encephalopathy" }, { "id": "MONDO:0011953", "name": "encephalopathy, acute, infection-induced, susceptibility to, 3" }, { "id": "MONDO:0011953", "name": "infection-induced acute encephalopathy 3" }, { "id": "MONDO:0011953", "name": "susceptibility to acute infection-induced encephalopathy-3" }, { "id": "MONDO:0011953", "name": "susceptibility to acute necrotizing encephalopathy" }, { "id": "MONDO:0011953", "name": "susceptibility to infection-induced acute encephalopathy 3" }, { "id": "MIM:608033", "name": "Encephalopathy, acute, infection-induced, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011953", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011966", "disease_id": "MONDO:0011966", "recommended_name": "periventricular heterotopia with microcephaly, autosomal recessive", "synonyms": [ { "id": "MONDO:0011966", "name": "periventricular heterotopia with microcephaly, autosomal recessive" }, { "id": "MONDO:0011966", "name": "ARPHM" }, { "id": "MIM:608097", "name": "Periventricular nodular heterotopia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011966", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011973", "disease_id": "MONDO:0011973", "recommended_name": "zinc deficiency, transient neonatal", "synonyms": [ { "id": "MONDO:0011973", "name": "zinc deficiency, transient neonatal" }, { "id": "MONDO:0011973", "name": "TNZD" }, { "id": "MIM:608118", "name": "Zinc deficiency, transient neonatal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011973", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011982", "disease_id": "MONDO:0011982", "recommended_name": "autoimmune thyroid disease, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0011982", "name": "autoimmune thyroid disease, susceptibility to, 3" }, { "id": "MONDO:0011982", "name": "autoimmune thyroid disease, susceptibility to, type 3" }, { "id": "MONDO:0011982", "name": "AITD3" }, { "id": "MIM:608175", "name": "Autoimmune thyroid disease 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011982", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011986", "disease_id": "MONDO:0011986", "recommended_name": "tropical pancreatitis", "synonyms": [ { "id": "MONDO:0011986", "name": "TCP" }, { "id": "MONDO:0011986", "name": "tropical calcific chronic pancreatitis" }, { "id": "MIM:608189", "name": "Tropical calcific pancreatitis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011986", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0011998", "disease_id": "MONDO:0011998", "recommended_name": "autosomal dominant slowed nerve conduction velocity", "synonyms": [ { "id": "MONDO:0011998", "name": "autosomal dominant slowed nerve conduction velocity" }, { "id": "MONDO:0011998", "name": "slowed nerve conduction velocity, AD" }, { "id": "MONDO:0011998", "name": "SNCV" }, { "id": "MONDO:0011998", "name": "slowed nerve conduction velocity, autosomal dominant" }, { "id": "MIM:608236", "name": "Slowed nerve conduction velocity" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0011998", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012039", "disease_id": "MONDO:0012039", "recommended_name": "myocardial infarction, susceptibility to", "synonyms": [ { "id": "MONDO:0012039", "name": "myocardial infarction, decreased susceptibility to" }, { "id": "MONDO:0012039", "name": "myocardial infarction, susceptibility to" }, { "id": "MIM:608446", "name": "Myocardial infarction 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012039", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012044", "disease_id": "MONDO:0012044", "recommended_name": "corneal dystrophy, lattice type 3A", "synonyms": [ { "id": "MONDO:0012044", "name": "CDL3A" }, { "id": "MONDO:0012044", "name": "corneal dystrophy, lattice type IIIA" }, { "id": "MONDO:0012044", "name": "lattice corneal dystrophy type 3A" }, { "id": "MONDO:0012044", "name": "lattice corneal dystrophy type III A" }, { "id": "MIM:608471", "name": "Corneal dystrophy, lattice type 3A" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012044", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012057", "disease_id": "MONDO:0012057", "recommended_name": "legionnaire disease, susceptibility to", "synonyms": [ { "id": "MONDO:0012057", "name": "legionnaire disease, susceptibility to" }, { "id": "MONDO:0012057", "name": "Legionella infection" }, { "id": "MONDO:0012057", "name": "legionnaire's disease" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012057", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012073", "disease_id": "MONDO:0012073", "recommended_name": "ribose-5-P isomerase deficiency", "synonyms": [ { "id": "MIM:608611", "name": "Ribose 5-phosphate isomerase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012073", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012075", "disease_id": "MONDO:0012075", "recommended_name": "oligodontia-cancer predisposition syndrome", "synonyms": [ { "id": "MONDO:0012075", "name": "ODCRCS" }, { "id": "MONDO:0012075", "name": "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" }, { "id": "MONDO:0012075", "name": "oligodontia-cancer predisposition syndrome" }, { "id": "MONDO:0012075", "name": "oligodontia-colorectal cancer syndrome" }, { "id": "MONDO:0012075", "name": "tooth agenesis-colorectal cancer syndrome" }, { "id": "MIM:608615", "name": "Oligodontia-colorectal cancer syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012075", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012089", "disease_id": "MONDO:0012089", "recommended_name": "ichthyosis prematurity syndrome", "synonyms": [ { "id": "MONDO:0012089", "name": "IPS" }, { "id": "MONDO:0012089", "name": "congenital ichthyosis type 4" }, { "id": "MONDO:0012089", "name": "ichthyosis prematurity syndrome" }, { "id": "MONDO:0012089", "name": "idiopathic pneumonia syndrome" }, { "id": "MONDO:0012089", "name": "ichthyosis congenita IV" }, { "id": "MIM:608649", "name": "Ichthyosis prematurity syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012089", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012099", "disease_id": "MONDO:0012099", "recommended_name": "AICA-ribosiduria", "synonyms": [ { "id": "MONDO:0012099", "name": "5-amino-4-imidazole carboxamide ribosiduria" }, { "id": "MONDO:0012099", "name": "AICA-ribosiduria due to ATIC deficiency" }, { "id": "MONDO:0012099", "name": "ATIC deficiency" }, { "id": "MIM:608688", "name": "AICA-ribosuria due to ATIC deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012099", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012108", "disease_id": "MONDO:0012108", "recommended_name": "spondyloepimetaphyseal dysplasia, matrilin-3 type", "synonyms": [ { "id": "MONDO:0012108", "name": "SEMD, MATN3-related" }, { "id": "MONDO:0012108", "name": "SEMD, matrilin-3 type" }, { "id": "MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" }, { "id": "MONDO:0012108", "name": "SEMD MATN3-related" }, { "id": "MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia matrilin-3 related" }, { "id": "MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia matrilin-3 type" }, { "id": "MIM:608728", "name": "Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012108", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012110", "disease_id": "MONDO:0012110", "recommended_name": "growth delay due to insulin-like growth factor type 1 deficiency", "synonyms": [ { "id": "MONDO:0012110", "name": "IGF-1 deficiency" }, { "id": "MONDO:0012110", "name": "growth delay-deafness- intellectual disability syndrome" }, { "id": "MONDO:0012110", "name": "growth retardation with deafness and mental retardation due to IGF1 deficiency" }, { "id": "MONDO:0012110", "name": "primary insulin-like growth factor deficiency" }, { "id": "MONDO:0012110", "name": "growth retardation with sensorineural deafness and mental retardation" }, { "id": "MIM:608747", "name": "Insulin-like growth factor I deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012110", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012115", "disease_id": "MONDO:0012115", "recommended_name": "scoliosis, isolated, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0012115", "name": "IS3" }, { "id": "MONDO:0012115", "name": "scoliosis, isolated, susceptibility to, 3" }, { "id": "MIM:608765", "name": "Idiopathic scoliosis 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012115", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012124", "disease_id": "MONDO:0012124", "recommended_name": "sudden infant death-dysgenesis of the testes syndrome", "synonyms": [ { "id": "MONDO:0012124", "name": "SIDDT" }, { "id": "MONDO:0012124", "name": "sudden infant death - dysgenesis of the testes" }, { "id": "MONDO:0012124", "name": "sudden infant death with dysgenesis of the testes syndrome" }, { "id": "MIM:608800", "name": "Sudden infant death with dysgenesis of the testes syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012124", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012132", "disease_id": "MONDO:0012132", "recommended_name": "colorectal cancer, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0012132", "name": "GALNT12 colorectal cancer" }, { "id": "MONDO:0012132", "name": "colorectal cancer caused by mutation in GALNT12" }, { "id": "MONDO:0012132", "name": "colorectal cancer, susceptibility to, 1" }, { "id": "MONDO:0012132", "name": "colorectal cancer, susceptibility to, type 1" }, { "id": "MONDO:0012132", "name": "CRCS1" }, { "id": "MIM:608812", "name": "Colorectal cancer 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012132", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012143", "disease_id": "MONDO:0012143", "recommended_name": "hereditary cryohydrocytosis with reduced stomatin", "synonyms": [ { "id": "MONDO:0012143", "name": "ChC type 2" }, { "id": "MONDO:0012143", "name": "hereditary cryohydrocytosis type 2" }, { "id": "MONDO:0012143", "name": "sdCHC" }, { "id": "MONDO:0012143", "name": "stomatin-deficient cryohydrocytosis" }, { "id": "MONDO:0012143", "name": "SDCHCN" }, { "id": "MONDO:0012143", "name": "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly" }, { "id": "MIM:608885", "name": "Stomatin-deficient cryohydrocytosis with neurologic defects" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012143", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012145", "disease_id": "MONDO:0012145", "recommended_name": "macular degeneration, age-related, 3", "synonyms": [ { "id": "MONDO:0012145", "name": "FBLN5 age-related macular degeneration" }, { "id": "MONDO:0012145", "name": "age-related macular degeneration caused by mutation in FBLN5" }, { "id": "MONDO:0012145", "name": "macular Degeneration, age-related, type 3" }, { "id": "MONDO:0012145", "name": "macular degeneration, age-related, 3" }, { "id": "MONDO:0012145", "name": "ARMD3" }, { "id": "MONDO:0012145", "name": "HNARMD" }, { "id": "MIM:608895", "name": "Macular degeneration, age-related, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012145", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012148", "disease_id": "MONDO:0012148", "recommended_name": "obsolete drug metabolism, poor, CYP2D6-related", "synonyms": [ { "id": "MONDO:0012148", "name": "codeine sensitivity" }, { "id": "MONDO:0012148", "name": "debrisoquine sensitivity" }, { "id": "MONDO:0012148", "name": "drug metabolism, poor, CYP2D6-related" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012148", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012164", "disease_id": "MONDO:0012164", "recommended_name": "Meacham syndrome", "synonyms": [ { "id": "MONDO:0012164", "name": "Meacham syndrome" }, { "id": "MONDO:0012164", "name": "Meacham-Winn-Culler syndrome" }, { "id": "MONDO:0012164", "name": "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" }, { "id": "MONDO:0012164", "name": "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" }, { "id": "MONDO:0012164", "name": "Meacham Winn Culler syndrome" }, { "id": "MIM:608978", "name": "Meacham syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012164", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012165", "disease_id": "MONDO:0012165", "recommended_name": "BNAR syndrome", "synonyms": [ { "id": "MONDO:0012165", "name": "bifid nose with or without anorectal and renal anomalies" }, { "id": "MONDO:0012165", "name": "BNAR" }, { "id": "MONDO:0012165", "name": "bifid NOSE with or without anorectal and renal anomalies" }, { "id": "MIM:608980", "name": "Bifid nose, with or without anorectal and renal anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012165", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012183", "disease_id": "MONDO:0012183", "recommended_name": "melanoma, cutaneous malignant, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0012183", "name": "melanoma, cutaneous malignant, 3" }, { "id": "MONDO:0012183", "name": "melanoma, cutaneous malignant, susceptibility to, 3" }, { "id": "MONDO:0012183", "name": "melanoma, cutaneous malignant, susceptibility to, type 3" }, { "id": "MONDO:0012183", "name": "CMM3" }, { "id": "MIM:609048", "name": "Melanoma, cutaneous malignant 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012183", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012190", "disease_id": "MONDO:0012190", "recommended_name": "epidermolysis bullosa simplex 7, with nephropathy and deafness", "synonyms": [ { "id": "MONDO:0012190", "name": "epidermolysis bullosa simplex 7, with nephropathy and deafness" }, { "id": "MONDO:0012190", "name": "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" }, { "id": "MONDO:0012190", "name": "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" }, { "id": "MIM:609057", "name": "Epidermolysis bullosa simplex 7, with nephropathy and deafness" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012190", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012192", "disease_id": "MONDO:0012192", "recommended_name": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome", "synonyms": [ { "id": "MONDO:0012192", "name": "pancreatic and cerebellar agenesis" }, { "id": "MONDO:0012192", "name": "paca" }, { "id": "MIM:609069", "name": "Pancreatic and cerebellar agenesis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012192", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012202", "disease_id": "MONDO:0012202", "recommended_name": "malaria, mild, susceptibility to", "synonyms": [ { "id": "MONDO:0012202", "name": "malaria, mild, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012202", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012204", "disease_id": "MONDO:0012204", "recommended_name": "familial pseudohyperkalemia", "synonyms": [ { "id": "MONDO:0012204", "name": "PSHK2" }, { "id": "MONDO:0012204", "name": "pseudohyperkalemia, familial, 2, due to red cell leak" }, { "id": "MIM:609153", "name": "Pseudohyperkalemia, familial, 2, due to red cell leak" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012204", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012206", "disease_id": "MONDO:0012206", "recommended_name": "spondyloepiphyseal dysplasia with metatarsal shortening", "synonyms": [ { "id": "MONDO:0012206", "name": "Czech dysplasia" }, { "id": "MONDO:0012206", "name": "Czech dysplasia metatarsal type" }, { "id": "MONDO:0012206", "name": "Czech dysplasia, metatarsal type" }, { "id": "MONDO:0012206", "name": "SED with metatarsal shortening" }, { "id": "MONDO:0012206", "name": "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" }, { "id": "MONDO:0012206", "name": "spondyloepiphyseal dysplasia with precocious osteoarthritis" }, { "id": "MONDO:0012206", "name": "pseudorheumatoid dysplasia progressive, with hypoplastic toes" }, { "id": "MIM:609162", "name": "Czech dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012206", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012208", "disease_id": "MONDO:0012208", "recommended_name": "congenital reticular ichthyosiform erythroderma", "synonyms": [ { "id": "MONDO:0012208", "name": "CRIE" }, { "id": "MONDO:0012208", "name": "IWC" }, { "id": "MONDO:0012208", "name": "ichthyosis variegata" }, { "id": "MONDO:0012208", "name": "ichthyosis with confetti" }, { "id": "MONDO:0012208", "name": "erythroderma, ichthyosiform, congenital reticular" }, { "id": "MIM:609165", "name": "Ichthyosis with confetti" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012208", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012243", "disease_id": "MONDO:0012243", "recommended_name": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "synonyms": [ { "id": "MONDO:0012243", "name": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" }, { "id": "MONDO:0012243", "name": "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome" }, { "id": "MONDO:0012243", "name": "BILU syndrome" }, { "id": "MONDO:0012243", "name": "Hoffman syndrome" }, { "id": "MIM:609296", "name": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012243", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012258", "disease_id": "MONDO:0012258", "recommended_name": "epidermolysis bullosa simplex 2E, with migratory circinate erythema", "synonyms": [ { "id": "MONDO:0012258", "name": "EBS-migr" }, { "id": "MONDO:0012258", "name": "epidermolysis bullosa simplex 2E, with migratory circinate erythema" }, { "id": "MONDO:0012258", "name": "epidermolysis bullosa simplex with migratory circinate erythema" }, { "id": "MIM:609352", "name": "Epidermolysis bullosa simplex 2E, with migratory circinate erythema" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012258", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012271", "disease_id": "MONDO:0012271", "recommended_name": "mesoaxial synostotic syndactyly with phalangeal reduction", "synonyms": [ { "id": "MONDO:0012271", "name": "MSSD" }, { "id": "MONDO:0012271", "name": "syndactyly type 9" }, { "id": "MONDO:0012271", "name": "syndactyly, Malik-Percin type" }, { "id": "MONDO:0012271", "name": "syndactyly Malik-Percin type" }, { "id": "MONDO:0012271", "name": "syndactyly mesoaxial synostotic with phalangeal reduction" }, { "id": "MONDO:0012271", "name": "syndactyly, mesoaxial synostotic, with phalangeal reduction" }, { "id": "MIM:609432", "name": "Syndactyly, mesoaxial synostotic, with phalangeal reduction" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012271", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012282", "disease_id": "MONDO:0012282", "recommended_name": "Al-Gazali syndrome", "synonyms": [ { "id": "MONDO:0012282", "name": "Al-Gazali syndrome" }, { "id": "MONDO:0012282", "name": "Al Gazali Al Talabani syndrome" }, { "id": "MONDO:0012282", "name": "Al Gazali syndrome" }, { "id": "MONDO:0012282", "name": "eye defects arachnodactyly cardiopathy" }, { "id": "MIM:609465", "name": "Al-Gazali syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012282", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012287", "disease_id": "MONDO:0012287", "recommended_name": "Stickler syndrome, type I, nonsyndromic ocular", "synonyms": [ { "id": "MONDO:0012287", "name": "Stickler syndrome, type i, nonsyndromic ocular" }, { "id": "MIM:609508", "name": "Rhegmatogenous retinal detachment autosomal dominant" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012287", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012294", "disease_id": "MONDO:0012294", "recommended_name": "obsolete drug metabolism, poor, Cyp2C19-related", "synonyms": [ { "id": "MONDO:0012294", "name": "clopidogrel, impaired responsiveness to" }, { "id": "MONDO:0012294", "name": "drug metabolism, poor, Cyp2C19-related" }, { "id": "MONDO:0012294", "name": "mephenytoin poor metabolizer" }, { "id": "MONDO:0012294", "name": "omeprazole poor metabolizer" }, { "id": "MONDO:0012294", "name": "proguanil poor metabolizer" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012294", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012307", "disease_id": "MONDO:0012307", "recommended_name": "familial scaphocephaly syndrome, McGillivray type", "synonyms": [ { "id": "MONDO:0012307", "name": "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" }, { "id": "MONDO:0012307", "name": "scaphocephaly, maxillary retrusion, and mental retardation" }, { "id": "MIM:609579", "name": "Familial scaphocephaly syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012307", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012323", "disease_id": "MONDO:0012323", "recommended_name": "lethal acantholytic epidermolysis bullosa", "synonyms": [ { "id": "MONDO:0012323", "name": "LAEB" }, { "id": "MONDO:0012323", "name": "lethal acantholytic epidermolysis bullosa" }, { "id": "MONDO:0012323", "name": "EBLA" }, { "id": "MONDO:0012323", "name": "epidermolysis bullosa, lethal acantholytic" }, { "id": "MIM:609638", "name": "Epidermolysis bullosa, lethal acantholytic" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012323", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012350", "disease_id": "MONDO:0012350", "recommended_name": "complement factor H deficiency", "synonyms": [ { "id": "MONDO:0012350", "name": "complement factor H deficiency" }, { "id": "MONDO:0012350", "name": "CFHD" }, { "id": "MIM:609814", "name": "Complement factor H deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012350", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012359", "disease_id": "MONDO:0012359", "recommended_name": "combined immunodeficiency due to partial RAG1 deficiency", "synonyms": [ { "id": "MONDO:0012359", "name": "CID due to partial RAG1 deficiency" }, { "id": "MONDO:0012359", "name": "CID with expansion of gamma delta T cells" }, { "id": "MONDO:0012359", "name": "combined immunodeficiency with expansion of gamma delta T cells" }, { "id": "MIM:609889", "name": "Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012359", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012368", "disease_id": "MONDO:0012368", "recommended_name": "aminoacylase 1 deficiency", "synonyms": [ { "id": "MONDO:0012368", "name": "ACY1D" }, { "id": "MONDO:0012368", "name": "N-acyl-L-amino acid amidohydrolase deficiency" }, { "id": "MONDO:0012368", "name": "aminoacylase 1 deficiency" }, { "id": "MONDO:0012368", "name": "neurological conditions associated with aminoacylase 1 deficiency" }, { "id": "MONDO:0012368", "name": "ACY1 deficiency" }, { "id": "MONDO:0012368", "name": "deficiency of the aminoacylase-1 enzyme" }, { "id": "MIM:609924", "name": "Aminoacylase-1 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012368", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012392", "disease_id": "MONDO:0012392", "recommended_name": "2-methylbutyryl-CoA dehydrogenase deficiency", "synonyms": [ { "id": "MONDO:0012392", "name": "2-methylbutyric aciduria" }, { "id": "MONDO:0012392", "name": "2-methylbutyryl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0012392", "name": "2-methylbutyrylglycinuria" }, { "id": "MONDO:0012392", "name": "SBCAD deficiency" }, { "id": "MONDO:0012392", "name": "butyryl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0012392", "name": "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0012392", "name": "short/branched-chain acyl-coA dehydrogenase deficiency" }, { "id": "MONDO:0012392", "name": "short branched-chain acyl-CoA dehydrogenase deficiency" }, { "id": "MIM:610006", "name": "Short/branched-chain acyl-CoA dehydrogenase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012392", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012408", "disease_id": "MONDO:0012408", "recommended_name": "microphthalmia, isolated, with coloboma 3", "synonyms": [ { "id": "MONDO:0012408", "name": "VSX2 microphthalmia, isolated, with coloboma" }, { "id": "MONDO:0012408", "name": "microphthalmia with coloboma 3" }, { "id": "MONDO:0012408", "name": "microphthalmia, isolated, with coloboma 3" }, { "id": "MONDO:0012408", "name": "microphthalmia, isolated, with coloboma caused by mutation in VSX2" }, { "id": "MONDO:0012408", "name": "microphthalmia, isolated, with coloboma type 3" }, { "id": "MONDO:0012408", "name": "MCOPCB3" }, { "id": "MIM:610092", "name": "Microphthalmia/Coloboma 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012408", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012417", "disease_id": "MONDO:0012417", "recommended_name": "heart-hand syndrome, Slovenian type", "synonyms": [ { "id": "MONDO:0012417", "name": "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" }, { "id": "MONDO:0012417", "name": "atriodigital dysplasia, Slovenian type" }, { "id": "MONDO:0012417", "name": "heart-hand syndrome, Slovenian type" }, { "id": "MIM:610140", "name": "Heart-hand syndrome Slovenian type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012417", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012423", "disease_id": "MONDO:0012423", "recommended_name": "MORM syndrome", "synonyms": [ { "id": "MONDO:0012423", "name": "MORM syndrome" }, { "id": "MONDO:0012423", "name": "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" }, { "id": "MONDO:0012423", "name": "mental retardation, truncal obesity, retinal dystrophy, and micropenis" }, { "id": "MONDO:0012423", "name": "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" }, { "id": "MONDO:0012423", "name": "MORMS" }, { "id": "MONDO:0012423", "name": "intellectual disability, truncal obesity, retinal dystrophy and micropenis" }, { "id": "MONDO:0012423", "name": "intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome" }, { "id": "MONDO:0012423", "name": "mental retardation, truncal obesity, retinal dystrophy and micropenis" }, { "id": "MONDO:0012423", "name": "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" }, { "id": "MIM:610156", "name": "Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012423", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012446", "disease_id": "MONDO:0012446", "recommended_name": "seborrhea-like dermatitis with psoriasiform elements", "synonyms": [ { "id": "MONDO:0012446", "name": "seborrhea-like dermatitis with psoriasiform elements" }, { "id": "MIM:610227", "name": "Seborrhea-like dermatitis with psoriasiform elements" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012446", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012454", "disease_id": "MONDO:0012454", "recommended_name": "alcohol sensitivity, acute", "synonyms": [ { "id": "MONDO:0012454", "name": "alcohol sensitivity, acute" }, { "id": "MONDO:0012454", "name": "acute alcohol sensitivity" }, { "id": "MONDO:0012454", "name": "alcohol intolerance" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012454", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012465", "disease_id": "MONDO:0012465", "recommended_name": "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "synonyms": [ { "id": "MONDO:0012465", "name": "PIGM-CDG" }, { "id": "MONDO:0012465", "name": "GPID" }, { "id": "MONDO:0012465", "name": "congenital disorder of glycosylation due to PIGM deficiency" }, { "id": "MIM:610293", "name": "Glycosylphosphatidylinositol biosynthesis defect 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012465", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012466", "disease_id": "MONDO:0012466", "recommended_name": "Parkinson disease 13, autosomal dominant, susceptibility to", "synonyms": [ { "id": "MONDO:0012466", "name": "HTRA2 young-onset Parkinson disease" }, { "id": "MONDO:0012466", "name": "PARK13" }, { "id": "MONDO:0012466", "name": "Parkinson disease 13" }, { "id": "MONDO:0012466", "name": "Parkinson disease 13, autosomal dominant, susceptibility to" }, { "id": "MONDO:0012466", "name": "young-onset Parkinson disease caused by mutation in HTRA2" }, { "id": "MIM:610297", "name": "Parkinson disease 13" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012466", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012482", "disease_id": "MONDO:0012482", "recommended_name": "West Nile virus, susceptibility to", "synonyms": [ { "id": "MONDO:0012482", "name": "West Nile virus, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012482", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012488", "disease_id": "MONDO:0012488", "recommended_name": "hepatitis B virus, susceptibility to", "synonyms": [ { "id": "MONDO:0012488", "name": "hepatitis B virus infection, susceptibility to" }, { "id": "MONDO:0012488", "name": "hepatitis b virus, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012488", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012490", "disease_id": "MONDO:0012490", "recommended_name": "cone-rod synaptic disorder, congenital nonprogressive", "synonyms": [ { "id": "MONDO:0012490", "name": "cone-rod synaptic disorder, congenital nonprogressive" }, { "id": "MONDO:0012490", "name": "CRSD" }, { "id": "MONDO:0012490", "name": "night blindness, congenital stationary, incomplete, autosomal recessive" }, { "id": "MONDO:0012490", "name": "night blindness, congenital stationary, type 2B" }, { "id": "MIM:610427", "name": "Cone-rod synaptic disorder, congenital non-progressive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012490", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012499", "disease_id": "MONDO:0012499", "recommended_name": "Buruli ulcer, susceptibility to", "synonyms": [ { "id": "MONDO:0012499", "name": "Buruli ulcer, susceptibility to" }, { "id": "MONDO:0012499", "name": "BUD" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012499", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012520", "disease_id": "MONDO:0012520", "recommended_name": "insulin-resistance syndrome type A", "synonyms": [ { "id": "MONDO:0012520", "name": "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" }, { "id": "MONDO:0012520", "name": "type A insulin resistance syndrome" }, { "id": "MONDO:0012520", "name": "insulin-resistant acanthosis nigricans, type A" }, { "id": "MIM:610549", "name": "Insulin-resistant diabetes mellitus with acanthosis nigricans type A" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012520", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012524", "disease_id": "MONDO:0012524", "recommended_name": "corticosterone methyloxidase type 2 deficiency", "synonyms": [ { "id": "MONDO:0012524", "name": "hypoaldosteronism, congenital, due to CMO II deficiency" }, { "id": "MIM:610600", "name": "Corticosterone methyloxidase 2 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012524", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012530", "disease_id": "MONDO:0012530", "recommended_name": "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "synonyms": [ { "id": "MONDO:0012530", "name": "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" }, { "id": "MONDO:0012530", "name": "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" }, { "id": "MIM:610644", "name": "Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012530", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012541", "disease_id": "MONDO:0012541", "recommended_name": "deafness with labyrinthine aplasia, microtia, and microdontia", "synonyms": [ { "id": "MONDO:0012541", "name": "LAMM syndrome" }, { "id": "MONDO:0012541", "name": "deafness with labyrinthine aplasia, microtia, and microdontia" }, { "id": "MONDO:0012541", "name": "deafness, congenital with inner ear agenesis, microtia, and microdontia" }, { "id": "MONDO:0012541", "name": "microdontia-type I microtia-deafness syndrome" }, { "id": "MONDO:0012541", "name": "congenital deafness with inner ear agenesis microtia and microdontia" }, { "id": "MONDO:0012541", "name": "deafness congenital with inner ear agenesis microtia and microdontia" }, { "id": "MONDO:0012541", "name": "deafness with labyrinthine aplasia microtia and microdontia (LAMM)" }, { "id": "MIM:610706", "name": "Deafness with labyrinthine aplasia, microtia and microdontia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012541", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012545", "disease_id": "MONDO:0012545", "recommended_name": "neutral lipid storage myopathy", "synonyms": [ { "id": "MONDO:0012545", "name": "NLSDM" }, { "id": "MONDO:0012545", "name": "neutral lipid storage disease with myopathy without ichthyosis" }, { "id": "MONDO:0012545", "name": "neutral lipid storage disease with myopathy" }, { "id": "MIM:610717", "name": "Neutral lipid storage disease with myopathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012545", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012557", "disease_id": "MONDO:0012557", "recommended_name": "cardiomyopathy-hypotonia-lactic acidosis syndrome", "synonyms": [ { "id": "MONDO:0012557", "name": "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" }, { "id": "MIM:610773", "name": "Mitochondrial phosphate carrier deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012557", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012559", "disease_id": "MONDO:0012559", "recommended_name": "primary immunodeficiency syndrome due to p14 deficiency", "synonyms": [ { "id": "MONDO:0012559", "name": "primary immunodeficiency syndrome due to LAMTOR2 deficiency" }, { "id": "MONDO:0012559", "name": "primary immunodeficiency syndrome with short stature" }, { "id": "MIM:610798", "name": "Immunodeficiency due to defect in MAPBP-interacting protein" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012559", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012570", "disease_id": "MONDO:0012570", "recommended_name": "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency", "synonyms": [ { "id": "MONDO:0012570", "name": "PXE-like syndrome" }, { "id": "MONDO:0012570", "name": "pseudoxanthoma elasticum-like syndrome" }, { "id": "MIM:610842", "name": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012570", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012584", "disease_id": "MONDO:0012584", "recommended_name": "systemic lupus erythematosus, susceptibility to, 9", "synonyms": [ { "id": "MONDO:0012584", "name": "CR2 systemic lupus erythematosus (disease)" }, { "id": "MONDO:0012584", "name": "systemic lupus erythematosus (disease) caused by mutation in CR2" }, { "id": "MONDO:0012584", "name": "systemic lupus erythematosus, susceptibility to, 9" }, { "id": "MONDO:0012584", "name": "systemic lupus erythematosus, susceptibility to, type 9" }, { "id": "MONDO:0012584", "name": "SLEB9" }, { "id": "MIM:610927", "name": "Systemic lupus erythematosus 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012584", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012585", "disease_id": "MONDO:0012585", "recommended_name": "coronary heart disease, susceptibility to, 7", "synonyms": [ { "id": "MONDO:0012585", "name": "CD36 coronary artery disease" }, { "id": "MONDO:0012585", "name": "coronary artery disease caused by mutation in CD36" }, { "id": "MONDO:0012585", "name": "coronary heart disease, susceptibility to, 7" }, { "id": "MONDO:0012585", "name": "coronary heart disease, susceptibility to, type 7" }, { "id": "MONDO:0012585", "name": "CHDS7" }, { "id": "MIM:610938", "name": "Coronary heart disease 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012585", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012593", "disease_id": "MONDO:0012593", "recommended_name": "brain-lung-thyroid syndrome", "synonyms": [ { "id": "MONDO:0012593", "name": "brain-lung-thyroid syndrome" }, { "id": "MONDO:0012593", "name": "choreoathetosis, hypothyroidism, and neonatal respiratory distress" }, { "id": "MONDO:0012593", "name": "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" }, { "id": "MONDO:0012593", "name": "BLT syndrome" }, { "id": "MONDO:0012593", "name": "CAHTP" }, { "id": "MONDO:0012593", "name": "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" }, { "id": "MONDO:0012593", "name": "choreoathetosis-hypothyroidism-neonatal respiratory distress" }, { "id": "MIM:610978", "name": "Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012593", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012595", "disease_id": "MONDO:0012595", "recommended_name": "leprosy, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0012595", "name": "LTA leprosy" }, { "id": "MONDO:0012595", "name": "leprosy caused by mutation in LTA" }, { "id": "MONDO:0012595", "name": "leprosy, susceptibility to, 4" }, { "id": "MONDO:0012595", "name": "leprosy, susceptibility to, type 4" }, { "id": "MONDO:0012595", "name": "LPRS4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012595", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012607", "disease_id": "MONDO:0012607", "recommended_name": "asthma-related traits, susceptibility to, 5", "synonyms": [ { "id": "MONDO:0012607", "name": "IRAK3 inherited susceptibility to asthma" }, { "id": "MONDO:0012607", "name": "asthma susceptibility 5" }, { "id": "MONDO:0012607", "name": "asthma-related traits, susceptibility to, 5" }, { "id": "MONDO:0012607", "name": "asthma-related traits, susceptibility to, type 5" }, { "id": "MONDO:0012607", "name": "inherited susceptibility to asthma caused by mutation in IRAK3" }, { "id": "MONDO:0012607", "name": "ASRT5" }, { "id": "MIM:611064", "name": "Asthma-related traits 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012607", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012621", "disease_id": "MONDO:0012621", "recommended_name": "deafness-infertility syndrome", "synonyms": [ { "id": "MONDO:0012621", "name": "DIS" }, { "id": "MONDO:0012621", "name": "deafness and male infertility" }, { "id": "MONDO:0012621", "name": "deafness-infertility syndrome" }, { "id": "MONDO:0012621", "name": "dis" }, { "id": "MONDO:0012621", "name": "sensorineural deafness and male infertility" }, { "id": "MIM:611102", "name": "Deafness-infertility syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012621", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012622", "disease_id": "MONDO:0012622", "recommended_name": "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "synonyms": [ { "id": "MONDO:0012622", "name": "LBSL" }, { "id": "MONDO:0012622", "name": "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation" }, { "id": "MONDO:0012622", "name": "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" }, { "id": "MONDO:0012622", "name": "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" }, { "id": "MONDO:0012622", "name": "leukoencephalopathy with brain stem and spinal cord involvement - high lactate" }, { "id": "MONDO:0012622", "name": "leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation" }, { "id": "MONDO:0012622", "name": "leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" }, { "id": "MONDO:0012622", "name": "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" }, { "id": "MIM:611105", "name": "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012622", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012634", "disease_id": "MONDO:0012634", "recommended_name": "craniofacial dysplasia - osteopenia syndrome", "synonyms": [ { "id": "MONDO:0012634", "name": "Hamamy syndrome" }, { "id": "MONDO:0012634", "name": "HAMAMY syndrome" }, { "id": "MONDO:0012634", "name": "HMMS" }, { "id": "MONDO:0012634", "name": "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" }, { "id": "MIM:611174", "name": "Hamamy syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012634", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012636", "disease_id": "MONDO:0012636", "recommended_name": "restless legs syndrome, susceptibility to, 6", "synonyms": [ { "id": "MONDO:0012636", "name": "RLS6" }, { "id": "MONDO:0012636", "name": "restless legs syndrome 6" }, { "id": "MONDO:0012636", "name": "restless legs syndrome, susceptibility to, 6" }, { "id": "MONDO:0012636", "name": "periodic limb movements in sleep" }, { "id": "MIM:611185", "name": "Restless legs syndrome 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012636", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012648", "disease_id": "MONDO:0012648", "recommended_name": "isobutyryl-CoA dehydrogenase deficiency", "synonyms": [ { "id": "MONDO:0012648", "name": "isobutyric aciduria" }, { "id": "MONDO:0012648", "name": "isobutyryl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0012648", "name": "acyl-CoaA dehydrogenase family, member 8, deficiency of" }, { "id": "MIM:611283", "name": "Isobutyryl-CoA dehydrogenase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012648", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012657", "disease_id": "MONDO:0012657", "recommended_name": "Mungan syndrome", "synonyms": [ { "id": "MONDO:0012657", "name": "MGS" }, { "id": "MONDO:0012657", "name": "MUNGAN syndrome" }, { "id": "MONDO:0012657", "name": "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities" }, { "id": "MONDO:0012657", "name": "pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities" }, { "id": "MONDO:0012657", "name": "pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities" }, { "id": "MONDO:0012657", "name": "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities" }, { "id": "MONDO:0012657", "name": "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities" }, { "id": "MIM:611376", "name": "Mungan syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012657", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012687", "disease_id": "MONDO:0012687", "recommended_name": "familial cavitary optic disk anomaly", "synonyms": [ { "id": "MONDO:0012687", "name": "familial CODA" }, { "id": "MONDO:0012687", "name": "CODA" }, { "id": "MONDO:0012687", "name": "cavitary optic DISC anomalies" }, { "id": "MIM:611543", "name": "Cavitary optic disc anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012687", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012693", "disease_id": "MONDO:0012693", "recommended_name": "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "synonyms": [ { "id": "MONDO:0012693", "name": "GSD due to muscle and heart glycogen synthase deficiency" }, { "id": "MONDO:0012693", "name": "GSD type 0b" }, { "id": "MONDO:0012693", "name": "glycogen storage disease due to glycogen synthase deficiency of heart" }, { "id": "MONDO:0012693", "name": "glycogen storage disease type 0b" }, { "id": "MONDO:0012693", "name": "glycogenosis due to muscle and heart glycogen synthase deficiency" }, { "id": "MONDO:0012693", "name": "glycogenosis type 0b" }, { "id": "MONDO:0012693", "name": "heart glycogen storage disease due to glycogen synthase deficiency" }, { "id": "MONDO:0012693", "name": "GSD0B" }, { "id": "MONDO:0012693", "name": "glycogen storage disease 0, muscle" }, { "id": "MONDO:0012693", "name": "glycogen storage disease type 0, muscle" }, { "id": "MIM:611556", "name": "Muscle glycogen storage disease 0" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012693", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0012700", "disease_id": "MONDO:0012700", "recommended_name": "renal tubular acidosis, distal, 4, with hemolytic anemia", "synonyms": [ { "id": "MONDO:0012700", "name": "dRTA with anaemia" }, { "id": "MONDO:0012700", "name": "dRTA with anemia" }, { "id": "MONDO:0012700", "name": "distal renal tubular acidosis 4 with hemolytic anaemia" }, { "id": "MONDO:0012700", "name": "distal renal tubular acidosis 4 with hemolytic anemia" }, { "id": "MONDO:0012700", "name": "distal renal tubular acidosis with anaemia" }, { "id": "MONDO:0012700", "name": "distal renal tubular acidosis with anemia" }, { "id": "MONDO:0012700", "name": "RTA, distal, autosomal recessive, with hemolytic Anaemia" }, { "id": "MONDO:0012700", "name": "renal tubular acidosis, distal, with hemolytic anaemia" }, { "id": "MIM:611590", "name": "Renal tubular acidosis, distal, 4, with hemolytic anemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012700", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012709", "disease_id": "MONDO:0012709", "recommended_name": "microphthalmia, isolated, with coloboma 5", "synonyms": [ { "id": "MONDO:0012709", "name": "SHH microphthalmia, isolated, with coloboma" }, { "id": "MONDO:0012709", "name": "Shh microphthalmia, isolated, with coloboma" }, { "id": "MONDO:0012709", "name": "microphthalmia with coloboma 5" }, { "id": "MONDO:0012709", "name": "microphthalmia, isolated, with coloboma 5" }, { "id": "MONDO:0012709", "name": "microphthalmia, isolated, with coloboma caused by mutation in SHH" }, { "id": "MONDO:0012709", "name": "microphthalmia, isolated, with coloboma caused by mutation in Shh" }, { "id": "MONDO:0012709", "name": "microphthalmia, isolated, with coloboma type 5" }, { "id": "MONDO:0012709", "name": "MCOPCB5" }, { "id": "MIM:611638", "name": "Microphthalmia/Coloboma 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012709", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012720", "disease_id": "MONDO:0012720", "recommended_name": "Krabbe disease due to saposin A deficiency", "synonyms": [ { "id": "MONDO:0012720", "name": "Krabbe disease, atypical" }, { "id": "MONDO:0012720", "name": "Krabbe disease, atypical due to saposin A deficiency" }, { "id": "MONDO:0012720", "name": "Krabbe disease, atypical, due to saposin A deficiency" }, { "id": "MIM:611722", "name": "Krabbe disease, atypical, due to saposin A deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012720", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012725", "disease_id": "MONDO:0012725", "recommended_name": "lipoprotein glomerulopathy", "synonyms": [ { "id": "MONDO:0012725", "name": "LPG" }, { "id": "MONDO:0012725", "name": "lipoprotein glomerulopathy" }, { "id": "MIM:611771", "name": "Lipoprotein glomerulopathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012725", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012726", "disease_id": "MONDO:0012726", "recommended_name": "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "synonyms": [ { "id": "MONDO:0012726", "name": "HANAC" }, { "id": "MONDO:0012726", "name": "HANAC syndrome" }, { "id": "MONDO:0012726", "name": "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" }, { "id": "MONDO:0012726", "name": "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" }, { "id": "MONDO:0012726", "name": "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" }, { "id": "MIM:611773", "name": "Hereditary angiopathy with nephropathy aneurysms and muscle cramps" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012726", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012734", "disease_id": "MONDO:0012734", "recommended_name": "SERKAL syndrome", "synonyms": [ { "id": "MONDO:0012734", "name": "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" }, { "id": "MONDO:0012734", "name": "SERKAL syndrome" }, { "id": "MONDO:0012734", "name": "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" }, { "id": "MONDO:0012734", "name": "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" }, { "id": "MONDO:0012734", "name": "SERKAL" }, { "id": "MIM:611812", "name": "46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012734", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012735", "disease_id": "MONDO:0012735", "recommended_name": "Temple-Baraitser syndrome", "synonyms": [ { "id": "MONDO:0012735", "name": "TMBTS" }, { "id": "MONDO:0012735", "name": "Temple-Baraitser syndrome" }, { "id": "MONDO:0012735", "name": "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome" }, { "id": "MONDO:0012735", "name": "mental retardation, severe, and absent nails of hallux and pollex" }, { "id": "MONDO:0012735", "name": "severe intellectual disability and absent nails of hallux and pollex" }, { "id": "MONDO:0012735", "name": "severe mental retardation and absent nails of hallux and pollex" }, { "id": "MIM:611816", "name": "Temple-Baraitser syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012735", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012747", "disease_id": "MONDO:0012747", "recommended_name": "glycogen storage disease due to aldolase A deficiency", "synonyms": [ { "id": "MONDO:0012747", "name": "GSD due to aldolase A deficiency" }, { "id": "MONDO:0012747", "name": "GSD type 12" }, { "id": "MONDO:0012747", "name": "GSD type XII" }, { "id": "MONDO:0012747", "name": "glycogen storage disease due to aldolase A deficiency" }, { "id": "MONDO:0012747", "name": "glycogen storage disease type 12" }, { "id": "MONDO:0012747", "name": "glycogen storage disease type XII" }, { "id": "MONDO:0012747", "name": "glycogenosis due to aldolase A deficiency" }, { "id": "MONDO:0012747", "name": "glycogenosis type 12" }, { "id": "MONDO:0012747", "name": "glycogenosis type XII" }, { "id": "MONDO:0012747", "name": "GSD12" }, { "id": "MONDO:0012747", "name": "aldolase deficiency red cell" }, { "id": "MONDO:0012747", "name": "glycogen storage disease 12" }, { "id": "MONDO:0012747", "name": "glycogen storage disease XII" }, { "id": "MIM:611881", "name": "Glycogen storage disease 12" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012747", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0012750", "disease_id": "MONDO:0012750", "recommended_name": "lethal arthrogryposis-anterior horn cell disease syndrome", "synonyms": [ { "id": "MONDO:0012750", "name": "LAAHD" }, { "id": "MONDO:0012750", "name": "Vuopala disease" }, { "id": "MONDO:0012750", "name": "congenital arthrogryposis with anterior horn cell disease" }, { "id": "MONDO:0012750", "name": "lethal arthrogryposis with anterior horn cell disease" }, { "id": "MIM:611890", "name": "Congenital arthrogryposis with anterior horn cell disease" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012750", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012763", "disease_id": "MONDO:0012763", "recommended_name": "epilepsy, childhood absence, susceptibility to, 6", "synonyms": [ { "id": "MONDO:0012763", "name": "ECA6" }, { "id": "MONDO:0012763", "name": "epilepsy, childhood absence, susceptibility to, 6" }, { "id": "MONDO:0012763", "name": "epilepsy, childhood absence, susceptibility to, type 6" }, { "id": "MONDO:0012763", "name": "susceptibility to childhood absence epilepsy 6" }, { "id": "MONDO:0012763", "name": "CACNA1H childhood absence epilepsy" }, { "id": "MONDO:0012763", "name": "childhood absence epilepsy caused by mutation in CACNA1H" }, { "id": "MIM:611942", "name": "Epilepsy, childhood absence 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012763", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012771", "disease_id": "MONDO:0012771", "recommended_name": "asthma-related traits, susceptibility to, 7", "synonyms": [ { "id": "MONDO:0012771", "name": "CHI3L1 inherited susceptibility to asthma" }, { "id": "MONDO:0012771", "name": "asthma-related traits, susceptibility to, 7" }, { "id": "MONDO:0012771", "name": "asthma-related traits, susceptibility to, type 7" }, { "id": "MONDO:0012771", "name": "inherited susceptibility to asthma caused by mutation in CHI3L1" }, { "id": "MONDO:0012771", "name": "ASRT7" }, { "id": "MIM:611960", "name": "Asthma-related traits 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012771", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012793", "disease_id": "MONDO:0012793", "recommended_name": "hypouricemia, renal, 2", "synonyms": [ { "id": "MONDO:0012793", "name": "hypouricemia, renal, 2" }, { "id": "MONDO:0012793", "name": "hypouricemia, renal, type 2" }, { "id": "MONDO:0012793", "name": "uric acid concentration, serum, QTL 2" }, { "id": "MONDO:0012793", "name": "RHUC2" }, { "id": "MIM:612076", "name": "Hypouricemia renal 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012793", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012801", "disease_id": "MONDO:0012801", "recommended_name": "autism, susceptibility to, 15", "synonyms": [ { "id": "MONDO:0012801", "name": "autism susceptibility 15" }, { "id": "MONDO:0012801", "name": "autism, susceptibility to, 15" }, { "id": "MONDO:0012801", "name": "autism, susceptibility to, type 15" }, { "id": "MONDO:0012801", "name": "AUTS15" }, { "id": "MIM:612100", "name": "Autism 15" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012801", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012803", "disease_id": "MONDO:0012803", "recommended_name": "diarrhea-vomiting due to trehalase deficiency", "synonyms": [ { "id": "MONDO:0012803", "name": "isolated trehalose intolerance" }, { "id": "MIM:612119", "name": "Trehalase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012803", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012807", "disease_id": "MONDO:0012807", "recommended_name": "epidermolysis bullosa simplex 5C, with pyloric atresia", "synonyms": [ { "id": "MONDO:0012807", "name": "EBS-PA" }, { "id": "MONDO:0012807", "name": "epidermolysis bullosa simplex 5C, with pyloric atresia" }, { "id": "MONDO:0012807", "name": "epidermolysis bullosa simplex with pyloric atresia" }, { "id": "MONDO:0012807", "name": "EBSPA" }, { "id": "MIM:612138", "name": "Epidermolysis bullosa simplex 5C, with pyloric atresia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012807", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012809", "disease_id": "MONDO:0012809", "recommended_name": "histiocytoma, Angiomatoid fibrous", "synonyms": [ { "id": "MONDO:0012809", "name": "AFH" }, { "id": "MONDO:0012809", "name": "angiomatoid fibrous histiocytoma" }, { "id": "MONDO:0012809", "name": "angiomatoid malignant fibrous histiocytoma" }, { "id": "MONDO:0012809", "name": "histiocytoma, Angiomatoid fibrous" }, { "id": "MONDO:0012809", "name": "histiocytoma, angiomatoid fibrous, somatic" }, { "id": "MIM:612160", "name": "Angiomatoid fibrous histiocytoma" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012809", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012820", "disease_id": "MONDO:0012820", "recommended_name": "colorectal cancer, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0012820", "name": "SMAD7 colorectal cancer" }, { "id": "MONDO:0012820", "name": "colorectal cancer caused by mutation in SMAD7" }, { "id": "MONDO:0012820", "name": "colorectal cancer, susceptibility to, 3" }, { "id": "MONDO:0012820", "name": "colorectal cancer, susceptibility to, type 3" }, { "id": "MONDO:0012820", "name": "CRCS3" }, { "id": "MIM:612229", "name": "Colorectal cancer 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012820", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012834", "disease_id": "MONDO:0012834", "recommended_name": "systemic lupus erythematosus, susceptibility to, 10", "synonyms": [ { "id": "MONDO:0012834", "name": "IRF5 systemic lupus erythematosus (disease)" }, { "id": "MONDO:0012834", "name": "systemic lupus erythematosus (disease) caused by mutation in IRF5" }, { "id": "MONDO:0012834", "name": "systemic lupus erythematosus, susceptibility to, 10" }, { "id": "MONDO:0012834", "name": "systemic lupus erythematosus, susceptibility to, type 10" }, { "id": "MONDO:0012834", "name": "SLEB10" }, { "id": "MIM:612251", "name": "Systemic lupus erythematosus 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012834", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012835", "disease_id": "MONDO:0012835", "recommended_name": "systemic lupus erythematosus, susceptibility to, 11", "synonyms": [ { "id": "MONDO:0012835", "name": "STAT4 systemic lupus erythematosus (disease)" }, { "id": "MONDO:0012835", "name": "systemic lupus erythematosus (disease) caused by mutation in STAT4" }, { "id": "MONDO:0012835", "name": "systemic lupus erythematosus, susceptibility to, 11" }, { "id": "MONDO:0012835", "name": "systemic lupus erythematosus, susceptibility to, type 11" }, { "id": "MONDO:0012835", "name": "SLEB11" }, { "id": "MIM:612253", "name": "Systemic lupus erythematosus 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012835", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012839", "disease_id": "MONDO:0012839", "recommended_name": "pyogenic bacterial infections due to MyD88 deficiency", "synonyms": [ { "id": "MONDO:0012839", "name": "MYD88D" }, { "id": "MONDO:0012839", "name": "MyD88 deficiency" }, { "id": "MONDO:0012839", "name": "immunodeficiency 68" }, { "id": "MONDO:0012839", "name": "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" }, { "id": "MONDO:0012839", "name": "recurrent pyogenic bacterial infections due to MyD88 deficiency" }, { "id": "MIM:612260", "name": "Immunodeficiency 68" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012839", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012843", "disease_id": "MONDO:0012843", "recommended_name": "epilepsy, childhood absence, susceptibility to, 5", "synonyms": [ { "id": "MONDO:0012843", "name": "ECA5" }, { "id": "MONDO:0012843", "name": "childhood absence epilepsy caused by mutation in GABRB3" }, { "id": "MONDO:0012843", "name": "epilepsy, childhood absence, susceptibility to, 5" }, { "id": "MONDO:0012843", "name": "epilepsy, childhood absence, susceptibility to, type 5" }, { "id": "MONDO:0012843", "name": "susceptibility to childhood absence epilepsy 5" }, { "id": "MONDO:0012843", "name": "GABRB3 childhood absence epilepsy" }, { "id": "MIM:612269", "name": "Epilepsy, childhood absence 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012843", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012854", "disease_id": "MONDO:0012854", "recommended_name": "bilateral microtia-deafness-cleft palate syndrome", "synonyms": [ { "id": "MONDO:0012854", "name": "microtia with or without hearing impairment (AD)" }, { "id": "MONDO:0012854", "name": "microtia, hearing impairment, and cleft palate (AR)" }, { "id": "MIM:612290", "name": "Microtia, hearing impairment, and cleft palate" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012854", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012858", "disease_id": "MONDO:0012858", "recommended_name": "primary CD59 deficiency", "synonyms": [ { "id": "MONDO:0012858", "name": "primary CD59 deficiency" }, { "id": "MONDO:0012858", "name": "HACD59" }, { "id": "MONDO:0012858", "name": "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" }, { "id": "MIM:612300", "name": "Hemolytic anemia, CD59-mediated, with or without polyneuropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012858", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012865", "disease_id": "MONDO:0012865", "recommended_name": "Pseudofolliculitis barbae", "synonyms": [ { "id": "MONDO:0012865", "name": "Pseudofolliculitis barbae" }, { "id": "MONDO:0012865", "name": "PFB" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012865", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012881", "disease_id": "MONDO:0012881", "recommended_name": "major affective disorder 7", "synonyms": [ { "id": "MONDO:0012881", "name": "major affective disorder 7" }, { "id": "MONDO:0012881", "name": "major affective disorder type 7" }, { "id": "MONDO:0012881", "name": "major affective disorder-7, susceptibility to" }, { "id": "MONDO:0012881", "name": "MAFD7" }, { "id": "MIM:612371", "name": "Major affective disorder 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012881", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012888", "disease_id": "MONDO:0012888", "recommended_name": "sarcoidosis, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0012888", "name": "BTNL2 sarcoidosis" }, { "id": "MONDO:0012888", "name": "sarcoidosis caused by mutation in BTNL2" }, { "id": "MONDO:0012888", "name": "sarcoidosis, susceptibility to, 2" }, { "id": "MONDO:0012888", "name": "sarcoidosis, susceptibility to, type 2" }, { "id": "MONDO:0012888", "name": "SS2" }, { "id": "MIM:612387", "name": "Sarcoidosis 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012888", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012893", "disease_id": "MONDO:0012893", "recommended_name": "osteoarthritis susceptibility 5", "synonyms": [ { "id": "MONDO:0012893", "name": "GDF5 osteoarthritis" }, { "id": "MONDO:0012893", "name": "osteoarthritis caused by mutation in GDF5" }, { "id": "MONDO:0012893", "name": "osteoarthritis susceptibility 5" }, { "id": "MONDO:0012893", "name": "osteoarthritis susceptibility type 5" }, { "id": "MONDO:0012893", "name": "osteoarthritis-5" }, { "id": "MONDO:0012893", "name": "OS5" }, { "id": "MIM:612400", "name": "Osteoarthritis 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012893", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012901", "disease_id": "MONDO:0012901", "recommended_name": "inherited prekallikrein deficiency", "synonyms": [ { "id": "MONDO:0012901", "name": "congenital prekallikrein deficiency" }, { "id": "MONDO:0012901", "name": "fletcher factor (prekallikrein) deficiency" }, { "id": "MONDO:0012901", "name": "hereditary prekallikrein deficiency" }, { "id": "MONDO:0012901", "name": "prekallikrein deficiency, congenital" }, { "id": "MIM:612423", "name": "Prekallikrein deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012901", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012909", "disease_id": "MONDO:0012909", "recommended_name": "skeletal defects, genital hypoplasia, and intellectual disability", "synonyms": [ { "id": "MONDO:0012909", "name": "skeletal defects, genital hypoplasia, and intellectual disability" }, { "id": "MONDO:0012909", "name": "skeletal defects, genital hypoplasia, and mental retardation" }, { "id": "MIM:612447", "name": "Skeletal defects, genital hypoplasia, and impaired intellectual development" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012909", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012931", "disease_id": "MONDO:0012931", "recommended_name": "focal segmental glomerulosclerosis 4, susceptibility to", "synonyms": [ { "id": "MONDO:0012931", "name": "APOL1 focal segmental glomerulosclerosis" }, { "id": "MONDO:0012931", "name": "focal segmental glomerulosclerosis 4, susceptibility to" }, { "id": "MONDO:0012931", "name": "focal segmental glomerulosclerosis caused by mutation in APOL1" }, { "id": "MONDO:0012931", "name": "glomerulosclerosis, focal segmental, 4, susceptibility to" }, { "id": "MONDO:0012931", "name": "FSGS4" }, { "id": "MIM:612551", "name": "Focal segmental glomerulosclerosis 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012931", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012933", "disease_id": "MONDO:0012933", "recommended_name": "breast-ovarian cancer, familial, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0012933", "name": "BRCA2 hereditary breast ovarian cancer syndrome" }, { "id": "MONDO:0012933", "name": "breast-ovarian cancer, familial, 2" }, { "id": "MONDO:0012933", "name": "breast-ovarian cancer, familial, susceptibility to, 2" }, { "id": "MONDO:0012933", "name": "breast-ovarian cancer, familial, susceptibility to, type 2" }, { "id": "MONDO:0012933", "name": "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" }, { "id": "MONDO:0012933", "name": "BROVCA2" }, { "id": "MIM:612555", "name": "Breast-ovarian cancer, familial, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012933", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012944", "disease_id": "MONDO:0012944", "recommended_name": "chromosome 17P13.3, telomeric, duplication syndrome", "synonyms": [ { "id": "MONDO:0012944", "name": "chromosome 17P13.3, telomeric, duplication syndrome" }, { "id": "MIM:612576", "name": "Split-hand/foot malformation with long bone deficiency 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012944", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012953", "disease_id": "MONDO:0012953", "recommended_name": "colorectal cancer, susceptibility to, 10", "synonyms": [ { "id": "MONDO:0012953", "name": "POLD1 colorectal cancer" }, { "id": "MONDO:0012953", "name": "colorectal cancer caused by mutation in POLD1" }, { "id": "MONDO:0012953", "name": "colorectal cancer, susceptibility to, 10" }, { "id": "MONDO:0012953", "name": "colorectal cancer, susceptibility to, type 10" }, { "id": "MONDO:0012953", "name": "CRCS10" }, { "id": "MIM:612591", "name": "Colorectal cancer 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012953", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012962", "disease_id": "MONDO:0012962", "recommended_name": "microvascular complications of diabetes, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0012962", "name": "EPO microvascular complications of diabetes, susceptibility" }, { "id": "MONDO:0012962", "name": "microvascular complications of diabetes 2" }, { "id": "MONDO:0012962", "name": "microvascular complications of diabetes, susceptibility caused by mutation in EPO" }, { "id": "MONDO:0012962", "name": "microvascular complications of diabetes, susceptibility to, 2" }, { "id": "MONDO:0012962", "name": "microvascular complications of diabetes, susceptibility to, type 2" }, { "id": "MONDO:0012962", "name": "MVCD2" }, { "id": "MIM:612623", "name": "Microvascular complications of diabetes 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012962", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012963", "disease_id": "MONDO:0012963", "recommended_name": "microvascular complications of diabetes, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0012963", "name": "ACE microvascular complications of diabetes, susceptibility" }, { "id": "MONDO:0012963", "name": "microvascular complications of diabetes 3" }, { "id": "MONDO:0012963", "name": "microvascular complications of diabetes, susceptibility caused by mutation in ACE" }, { "id": "MONDO:0012963", "name": "microvascular complications of diabetes, susceptibility to, 3" }, { "id": "MONDO:0012963", "name": "microvascular complications of diabetes, susceptibility to, type 3" }, { "id": "MONDO:0012963", "name": "MVCD3" }, { "id": "MIM:612624", "name": "Microvascular complications of diabetes 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012963", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012966", "disease_id": "MONDO:0012966", "recommended_name": "microvascular complications of diabetes, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0012966", "name": "IL1RN microvascular complications of diabetes, susceptibility" }, { "id": "MONDO:0012966", "name": "microvascular complications of diabetes 4" }, { "id": "MONDO:0012966", "name": "microvascular complications of diabetes, susceptibility caused by mutation in IL1RN" }, { "id": "MONDO:0012966", "name": "microvascular complications of diabetes, susceptibility to, 4" }, { "id": "MONDO:0012966", "name": "microvascular complications of diabetes, susceptibility to, type 4" }, { "id": "MONDO:0012966", "name": "MVCD4" }, { "id": "MIM:612628", "name": "Microvascular complications of diabetes 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012966", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012970", "disease_id": "MONDO:0012970", "recommended_name": "microvascular complications of diabetes, susceptibility to, 6", "synonyms": [ { "id": "MONDO:0012970", "name": "SOD2 microvascular complications of diabetes, susceptibility" }, { "id": "MONDO:0012970", "name": "microvascular complications of diabetes 6" }, { "id": "MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility caused by mutation in SOD2" }, { "id": "MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility to, 6" }, { "id": "MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility to, type 6" }, { "id": "MONDO:0012970", "name": "MVCD6" }, { "id": "MIM:612634", "name": "Microvascular complications of diabetes 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012970", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012992", "disease_id": "MONDO:0012992", "recommended_name": "pancreatic insufficiency-anemia-hyperostosis syndrome", "synonyms": [ { "id": "MONDO:0012992", "name": "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" }, { "id": "MIM:612714", "name": "Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012992", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0012997", "disease_id": "MONDO:0012997", "recommended_name": "cholestasis-pigmentary retinopathy-cleft palate syndrome", "synonyms": [ { "id": "MONDO:0012997", "name": "Hardikar syndrome" }, { "id": "MIM:301068", "name": "Hardikar syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0012997", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013013", "disease_id": "MONDO:0013013", "recommended_name": "question mark ears, isolated", "synonyms": [ { "id": "MONDO:0013013", "name": "question mark ears, isolated" }, { "id": "MONDO:0013013", "name": "QME" }, { "id": "MIM:612798", "name": "Question mark ears, isolated" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013013", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013014", "disease_id": "MONDO:0013014", "recommended_name": "spondyloepimetaphyseal dysplasia, aggrecan type", "synonyms": [ { "id": "MONDO:0013014", "name": "SEMD, aggrecan type" }, { "id": "MONDO:0013014", "name": "spondyloepimetaphyseal dysplasia, aggrecan type" }, { "id": "MONDO:0013014", "name": "SEMDAG" }, { "id": "MIM:612813", "name": "Spondyloepimetaphyseal dysplasia, aggrecan type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013014", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013019", "disease_id": "MONDO:0013019", "recommended_name": "obsolete spondyloepimetaphyseal dysplasia, Pakistani type", "synonyms": [], "record_url": "https://monarchinitiative.org/disease/MONDO:0013019", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013022", "disease_id": "MONDO:0013022", "recommended_name": "restless legs syndrome, susceptibility to, 7", "synonyms": [ { "id": "MONDO:0013022", "name": "RLS7" }, { "id": "MONDO:0013022", "name": "restless legs syndrome 7" }, { "id": "MONDO:0013022", "name": "restless legs syndrome, susceptibility to, 7" }, { "id": "MIM:612853", "name": "Restless legs syndrome 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013022", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013040", "disease_id": "MONDO:0013040", "recommended_name": "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly", "synonyms": [ { "id": "MONDO:0013040", "name": "D-HUS with MCP/CD46 anomaly" }, { "id": "MONDO:0013040", "name": "aHUS with MCP/CD46 anomaly" }, { "id": "MONDO:0013040", "name": "atypical HUS with MCP/CD46 anomaly" }, { "id": "MONDO:0013040", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 2" }, { "id": "MONDO:0013040", "name": "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" }, { "id": "MONDO:0013040", "name": "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly" }, { "id": "MONDO:0013040", "name": "AHUS2" }, { "id": "MONDO:0013040", "name": "aHUS2" }, { "id": "MONDO:0013040", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 2" }, { "id": "MIM:612922", "name": "Hemolytic uremic syndrome, atypical, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013040", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013041", "disease_id": "MONDO:0013041", "recommended_name": "atypical hemolytic-uremic syndrome with I factor anomaly", "synonyms": [ { "id": "MONDO:0013041", "name": "D-HUS with I factor anomaly" }, { "id": "MONDO:0013041", "name": "aHUS with I factor anomaly" }, { "id": "MONDO:0013041", "name": "atypical HUS with I factor anomaly" }, { "id": "MONDO:0013041", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 3" }, { "id": "MONDO:0013041", "name": "hemolytic-uremic syndrome without diarrhea with I factor anomaly" }, { "id": "MONDO:0013041", "name": "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" }, { "id": "MONDO:0013041", "name": "AHUS3" }, { "id": "MONDO:0013041", "name": "aHUS3" }, { "id": "MONDO:0013041", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 3" }, { "id": "MIM:612923", "name": "Hemolytic uremic syndrome, atypical, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013041", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013042", "disease_id": "MONDO:0013042", "recommended_name": "atypical hemolytic-uremic syndrome with B factor anomaly", "synonyms": [ { "id": "MONDO:0013042", "name": "D-HUS with B factor anomaly" }, { "id": "MONDO:0013042", "name": "aHUS with B factor anomaly" }, { "id": "MONDO:0013042", "name": "atypical HUS with B factor anomaly" }, { "id": "MONDO:0013042", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 4" }, { "id": "MONDO:0013042", "name": "hemolytic-uremic syndrome without diarrhea with B factor anomaly" }, { "id": "MONDO:0013042", "name": "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" }, { "id": "MONDO:0013042", "name": "AHUS4" }, { "id": "MONDO:0013042", "name": "aHUS4" }, { "id": "MONDO:0013042", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 4" }, { "id": "MIM:612924", "name": "Hemolytic uremic syndrome, atypical, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013042", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013043", "disease_id": "MONDO:0013043", "recommended_name": "atypical hemolytic-uremic syndrome with C3 anomaly", "synonyms": [ { "id": "MONDO:0013043", "name": "D-HUS with C3 anomaly" }, { "id": "MONDO:0013043", "name": "aHUS with C3 anomaly" }, { "id": "MONDO:0013043", "name": "atypical HUS with C3 anomaly" }, { "id": "MONDO:0013043", "name": "hemolytic uremic syndrome with DGKE deficiency" }, { "id": "MONDO:0013043", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 5" }, { "id": "MONDO:0013043", "name": "hemolytic-uremic syndrome without diarrhea with C3 anomaly" }, { "id": "MONDO:0013043", "name": "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" }, { "id": "MONDO:0013043", "name": "AHUS5" }, { "id": "MONDO:0013043", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 5" }, { "id": "MIM:612925", "name": "Hemolytic uremic syndrome, atypical, 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013043", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013044", "disease_id": "MONDO:0013044", "recommended_name": "atypical hemolytic-uremic syndrome with thrombomodulin anomaly", "synonyms": [ { "id": "MONDO:0013044", "name": "D-HUS with thrombomodulin anomaly" }, { "id": "MONDO:0013044", "name": "aHUS with thrombomodulin anomaly" }, { "id": "MONDO:0013044", "name": "atypical HUS with thrombomodulin anomaly" }, { "id": "MONDO:0013044", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 6" }, { "id": "MONDO:0013044", "name": "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" }, { "id": "MONDO:0013044", "name": "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" }, { "id": "MONDO:0013044", "name": "AHUS6" }, { "id": "MONDO:0013044", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 6" }, { "id": "MIM:612926", "name": "Hemolytic uremic syndrome, atypical, 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013044", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013046", "disease_id": "MONDO:0013046", "recommended_name": "glycogen storage disease due to muscle beta-enolase deficiency", "synonyms": [ { "id": "MONDO:0013046", "name": "GSD due to muscle beta-enolase deficiency" }, { "id": "MONDO:0013046", "name": "GSDXIII" }, { "id": "MONDO:0013046", "name": "glycogen storage disease due to muscle beta-enolase deficiency" }, { "id": "MONDO:0013046", "name": "glycogen storage disease type 13" }, { "id": "MONDO:0013046", "name": "glycogenosis due to muscle beta-enolase deficiency" }, { "id": "MONDO:0013046", "name": "glycogenosis type 13" }, { "id": "MONDO:0013046", "name": "muscle enolase deficiency" }, { "id": "MONDO:0013046", "name": "muscular enolase deficiency" }, { "id": "MONDO:0013046", "name": "GSD13" }, { "id": "MONDO:0013046", "name": "glycogen storage disease 13" }, { "id": "MONDO:0013046", "name": "glycogen storage disease XIII" }, { "id": "MIM:612932", "name": "Glycogen storage disease 13" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013046", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0013047", "disease_id": "MONDO:0013047", "recommended_name": "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency", "synonyms": [ { "id": "MONDO:0013047", "name": "GSD due to lactate dehydrogenase M-subunit deficiency" }, { "id": "MONDO:0013047", "name": "LDH-M subunit deficiency" }, { "id": "MONDO:0013047", "name": "LDHA glycogen storage disease" }, { "id": "MONDO:0013047", "name": "glycogen storage disease caused by mutation in LDHA" }, { "id": "MONDO:0013047", "name": "glycogenosis due to lactate dehydrogenase M-subunit deficiency" }, { "id": "MONDO:0013047", "name": "lactate dehydrogenase A deficiency" }, { "id": "MONDO:0013047", "name": "GSD 11" }, { "id": "MONDO:0013047", "name": "GSD XI" }, { "id": "MONDO:0013047", "name": "GSD type 11" }, { "id": "MONDO:0013047", "name": "GSD11" }, { "id": "MONDO:0013047", "name": "glycogen storage disease XI" }, { "id": "MONDO:0013047", "name": "glycogen storage disease type 11" }, { "id": "MONDO:0013047", "name": "glycogenosis type 11" }, { "id": "MONDO:0013047", "name": "lactate dehydrogenase deficiency type A" }, { "id": "MIM:612933", "name": "Glycogen storage disease 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013047", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0013049", "disease_id": "MONDO:0013049", "recommended_name": "DPM3-congenital disorder of glycosylation", "synonyms": [ { "id": "MONDO:0013049", "name": "CDG syndrome type Io" }, { "id": "MONDO:0013049", "name": "CDG-Io" }, { "id": "MONDO:0013049", "name": "CDG1O" }, { "id": "MONDO:0013049", "name": "DPM3-CDG" }, { "id": "MONDO:0013049", "name": "DPM3-congenital disorder of glycosylation" }, { "id": "MONDO:0013049", "name": "carbohydrate deficient glycoprotein syndrome type Io" }, { "id": "MONDO:0013049", "name": "congenital disorder of glycosylation type 1o" }, { "id": "MONDO:0013049", "name": "congenital disorder of glycosylation type Io" }, { "id": "MONDO:0013049", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" }, { "id": "MONDO:0013049", "name": "CDGIo" }, { "id": "MONDO:0013049", "name": "DG1O" }, { "id": "MONDO:0013049", "name": "DPM3-CDG (CDG-Io)" }, { "id": "MONDO:0013049", "name": "congenital disorder of glycosylation, type Io" }, { "id": "MIM:612937", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C15" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013049", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013050", "disease_id": "MONDO:0013050", "recommended_name": "lethal polymalformative syndrome, Boissel type", "synonyms": [ { "id": "MONDO:0013050", "name": "growth retardation, developmental delay, facial dysmorphism" }, { "id": "MONDO:0013050", "name": "GDFD" }, { "id": "MONDO:0013050", "name": "growth retardation, developmental delay, and facial dysmorphism" }, { "id": "MIM:612938", "name": "Growth retardation, developmental delay, and facial dysmorphism" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013050", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013063", "disease_id": "MONDO:0013063", "recommended_name": "ventricular fibrillation, paroxysmal familial, 2", "synonyms": [ { "id": "MONDO:0013063", "name": "DPP6 ventricular fibrillation (disease)" }, { "id": "MONDO:0013063", "name": "ventricular fibrillation (disease) caused by mutation in DPP6" }, { "id": "MONDO:0013063", "name": "ventricular fibrillation, paroxysmal familial, 2" }, { "id": "MONDO:0013063", "name": "ventricular fibrillation, paroxysmal familial, type 2" }, { "id": "MONDO:0013063", "name": "VF2" }, { "id": "MIM:612956", "name": "Familial paroxysmal ventricular fibrillation 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013063", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013074", "disease_id": "MONDO:0013074", "recommended_name": "encephalocraniocutaneous lipomatosis", "synonyms": [ { "id": "MONDO:0013074", "name": "ECCL" }, { "id": "MONDO:0013074", "name": "Fishman syndrome" }, { "id": "MONDO:0013074", "name": "Haberland syndrome" }, { "id": "MONDO:0013074", "name": "encephalocraniocutaneous lipomatosis" }, { "id": "MONDO:0013074", "name": "encephalocraniocutaneous lipomatosis, somatic mosaic" }, { "id": "MIM:613001", "name": "Encephalocraniocutaneous lipomatosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013074", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013076", "disease_id": "MONDO:0013076", "recommended_name": "attention deficit-hyperactivity disorder, susceptibility to, 7", "synonyms": [ { "id": "MONDO:0013076", "name": "ADHD7" }, { "id": "MONDO:0013076", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 7" }, { "id": "MONDO:0013076", "name": "attention deficit-hyperactivity disorder, susceptibility to, 7" }, { "id": "MIM:613003", "name": "Attention deficit-hyperactivity disorder 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013076", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013077", "disease_id": "MONDO:0013077", "recommended_name": "Santos syndrome", "synonyms": [ { "id": "MONDO:0013077", "name": "Santos syndrome" }, { "id": "MIM:613005", "name": "Santos syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013077", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013083", "disease_id": "MONDO:0013083", "recommended_name": "neuroblastoma, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0013083", "name": "ALK neuroblastoma" }, { "id": "MONDO:0013083", "name": "neuroblastoma caused by mutation in ALK" }, { "id": "MONDO:0013083", "name": "neuroblastoma, susceptibility to, 3" }, { "id": "MONDO:0013083", "name": "neuroblastoma, susceptibility to, type 3" }, { "id": "MONDO:0013083", "name": "NBLST3" }, { "id": "MIM:613014", "name": "Neuroblastoma 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013083", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013092", "disease_id": "MONDO:0013092", "recommended_name": "glioma susceptibility 2", "synonyms": [ { "id": "MONDO:0013092", "name": "PTEN malignant glioma" }, { "id": "MONDO:0013092", "name": "glioma susceptibility 2" }, { "id": "MONDO:0013092", "name": "glioma susceptibility type 2" }, { "id": "MONDO:0013092", "name": "malignant glioma caused by mutation in PTEN" }, { "id": "MONDO:0013092", "name": "GLM2" }, { "id": "MIM:613028", "name": "Glioma 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013092", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013093", "disease_id": "MONDO:0013093", "recommended_name": "glioma susceptibility 3", "synonyms": [ { "id": "MONDO:0013093", "name": "BRCA2 malignant glioma" }, { "id": "MONDO:0013093", "name": "glioblastoma 3" }, { "id": "MONDO:0013093", "name": "glioma susceptibility 3" }, { "id": "MONDO:0013093", "name": "glioma susceptibility type 3" }, { "id": "MONDO:0013093", "name": "malignant glioma caused by mutation in BRCA2" }, { "id": "MONDO:0013093", "name": "GLM3" }, { "id": "MIM:613029", "name": "Glioma 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013093", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013113", "disease_id": "MONDO:0013113", "recommended_name": "metaphyseal anadysplasia 2", "synonyms": [ { "id": "MONDO:0013113", "name": "MMP9 metaphyseal anadysplasia" }, { "id": "MONDO:0013113", "name": "metaphyseal anadysplasia 2" }, { "id": "MONDO:0013113", "name": "metaphyseal anadysplasia caused by mutation in MMP9" }, { "id": "MONDO:0013113", "name": "metaphyseal anadysplasia type 2" }, { "id": "MONDO:0013113", "name": "MANDP2" }, { "id": "MIM:613073", "name": "Metaphyseal anadysplasia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013113", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013115", "disease_id": "MONDO:0013115", "recommended_name": "RIN2 syndrome", "synonyms": [ { "id": "MONDO:0013115", "name": "MACS syndrome" }, { "id": "MONDO:0013115", "name": "RIN2 deficiency" }, { "id": "MONDO:0013115", "name": "RIN2 syndrome" }, { "id": "MONDO:0013115", "name": "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" }, { "id": "MONDO:0013115", "name": "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" }, { "id": "MIM:613075", "name": "MACS syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013115", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013116", "disease_id": "MONDO:0013116", "recommended_name": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "synonyms": [ { "id": "MONDO:0013116", "name": "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" }, { "id": "MONDO:0013116", "name": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" }, { "id": "MONDO:0013116", "name": "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" }, { "id": "MONDO:0013116", "name": "myopathy with cataract and combined respiratory-chain deficiency" }, { "id": "MIM:613076", "name": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013116", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013118", "disease_id": "MONDO:0013118", "recommended_name": "Nijmegen breakage syndrome-like disorder", "synonyms": [ { "id": "MONDO:0013118", "name": "NBSLD" }, { "id": "MONDO:0013118", "name": "NBs-like disorder" }, { "id": "MONDO:0013118", "name": "Nijmegen breakage syndrome-like disorder" }, { "id": "MONDO:0013118", "name": "RAD50 deficiency" }, { "id": "MONDO:0013118", "name": "microcephaly and chromosomal instability without immunodeficiency" }, { "id": "MIM:613078", "name": "Nijmegen breakage syndrome-like disorder" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013118", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013125", "disease_id": "MONDO:0013125", "recommended_name": "CLAPO syndrome", "synonyms": [ { "id": "MONDO:0013125", "name": "CLAPO syndrome, somatic" }, { "id": "MIM:613089", "name": "CLAPO syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013125", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013129", "disease_id": "MONDO:0013129", "recommended_name": "cone dystrophy 4", "synonyms": [ { "id": "MONDO:0013129", "name": "PDE6C cone dystrophy" }, { "id": "MONDO:0013129", "name": "cone dystrophy 4" }, { "id": "MONDO:0013129", "name": "cone dystrophy caused by mutation in PDE6C" }, { "id": "MONDO:0013129", "name": "cone dystrophy type 4" }, { "id": "MONDO:0013129", "name": "COD4" }, { "id": "MIM:613093", "name": "Cone dystrophy 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013129", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013133", "disease_id": "MONDO:0013133", "recommended_name": "melanoma, cutaneous malignant, susceptibility to, 5", "synonyms": [ { "id": "MONDO:0013133", "name": "melanoma, cutaneous malignant, 5" }, { "id": "MONDO:0013133", "name": "melanoma, cutaneous malignant, susceptibility to, 5" }, { "id": "MONDO:0013133", "name": "melanoma, cutaneous malignant, susceptibility to, type 5" }, { "id": "MONDO:0013133", "name": "CMM5" }, { "id": "MIM:613099", "name": "Melanoma, cutaneous malignant 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013133", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013136", "disease_id": "MONDO:0013136", "recommended_name": "hereditary hypotrichosis with recurrent skin vesicles", "synonyms": [ { "id": "MONDO:0013136", "name": "hereditary hypotrichosis with recurrent skin vesicles" }, { "id": "MIM:613102", "name": "Hypotrichosis and recurrent skin vesicles" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013136", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013164", "disease_id": "MONDO:0013164", "recommended_name": "beta-ureidopropionase deficiency", "synonyms": [ { "id": "MONDO:0013164", "name": "Beta-alanine synthase deficiency" }, { "id": "MONDO:0013164", "name": "beta-ureidopropionase deficiency" }, { "id": "MONDO:0013164", "name": "UPB1D" }, { "id": "MIM:613161", "name": "Beta-ureidopropionase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013164", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013185", "disease_id": "MONDO:0013185", "recommended_name": "leprosy, susceptibility to, 5", "synonyms": [ { "id": "MONDO:0013185", "name": "TLR1 leprosy" }, { "id": "MONDO:0013185", "name": "leprosy caused by mutation in TLR1" }, { "id": "MONDO:0013185", "name": "leprosy, susceptibility to, 5" }, { "id": "MONDO:0013185", "name": "leprosy, susceptibility to, type 5" }, { "id": "MONDO:0013185", "name": "LPRS5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013185", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013193", "disease_id": "MONDO:0013193", "recommended_name": "thyrotoxic periodic paralysis, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0013193", "name": "KCNJ18 thyrotoxic periodic paralysis" }, { "id": "MONDO:0013193", "name": "thyrotoxic periodic paralysis caused by mutation in KCNJ18" }, { "id": "MONDO:0013193", "name": "thyrotoxic periodic paralysis, susceptibility to, 2" }, { "id": "MONDO:0013193", "name": "thyrotoxic periodic paralysis, susceptibility to, type 2" }, { "id": "MONDO:0013193", "name": "TTPP2" }, { "id": "MIM:613239", "name": "Thyrotoxic periodic paralysis 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013193", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013214", "disease_id": "MONDO:0013214", "recommended_name": "bile acid malabsorption, primary, 1", "synonyms": [ { "id": "MONDO:0013214", "name": "Bile acid malabsorption, primary, 1" }, { "id": "MONDO:0013214", "name": "bile acid malabsorption, primary" }, { "id": "MONDO:0013214", "name": "PBAM" }, { "id": "MIM:613291", "name": "Bile acid malabsorption, primary, 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013214", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013226", "disease_id": "MONDO:0013226", "recommended_name": "combined immunodeficiency with faciooculoskeletal anomalies", "synonyms": [ { "id": "MONDO:0013226", "name": "Roifman-Chitayat syndrome" }, { "id": "MONDO:0013226", "name": "Roifman-Chitayat syndrome, digenic" }, { "id": "MIM:613328", "name": "Roifman-Chitayat syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013226", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013227", "disease_id": "MONDO:0013227", "recommended_name": "congenital plasminogen activator inhibitor type 1 deficiency", "synonyms": [ { "id": "MONDO:0013227", "name": "congenital PAI-1 deficiency" }, { "id": "MONDO:0013227", "name": "congenital plasminogen activator inhibitor type 1 deficiency" }, { "id": "MONDO:0013227", "name": "plasminogen activator inhibitor type 1 deficiency" }, { "id": "MIM:613329", "name": "Plasminogen activator inhibitor-1 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013227", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013228", "disease_id": "MONDO:0013228", "recommended_name": "spondylo-megaepiphyseal-metaphyseal dysplasia", "synonyms": [ { "id": "MONDO:0013228", "name": "spondylo-megaepiphyseal-metaphyseal dysplasia" }, { "id": "MONDO:0013228", "name": "SMMD" }, { "id": "MIM:613330", "name": "Spondylo-megaepiphyseal-metaphyseal dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013228", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013235", "disease_id": "MONDO:0013235", "recommended_name": "pancreatic cancer, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0013235", "name": "BRCA2 familial pancreatic carcinoma" }, { "id": "MONDO:0013235", "name": "familial pancreatic carcinoma caused by mutation in BRCA2" }, { "id": "MONDO:0013235", "name": "pancreatic cancer 2" }, { "id": "MONDO:0013235", "name": "pancreatic cancer, susceptibility to, 2" }, { "id": "MONDO:0013235", "name": "pancreatic cancer, susceptibility to, type 2" }, { "id": "MIM:613347", "name": "Pancreatic cancer 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013235", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013236", "disease_id": "MONDO:0013236", "recommended_name": "pancreatic cancer, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0013236", "name": "PALB2 familial pancreatic carcinoma" }, { "id": "MONDO:0013236", "name": "familial pancreatic carcinoma caused by mutation in PALB2" }, { "id": "MONDO:0013236", "name": "pancreatic cancer, susceptibility to, 3" }, { "id": "MONDO:0013236", "name": "pancreatic cancer, susceptibility to, type 3" }, { "id": "MIM:613348", "name": "Pancreatic cancer 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013236", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013237", "disease_id": "MONDO:0013237", "recommended_name": "susceptibility to mononeuropathy of the median nerve, mild", "synonyms": [ { "id": "MONDO:0013237", "name": "mononeuropathy of the median nerve, mild" }, { "id": "MONDO:0013237", "name": "MNMN" }, { "id": "MIM:613353", "name": "Mononeuropathy of the median nerve mild" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013237", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013245", "disease_id": "MONDO:0013245", "recommended_name": "syndromic multisystem autoimmune disease due to ITCH deficiency", "synonyms": [ { "id": "MONDO:0013245", "name": "syndromic multisystem autoimmune disease due to ITCH deficiency" }, { "id": "MONDO:0013245", "name": "ADMFD" }, { "id": "MONDO:0013245", "name": "ITCH E3 ubiquitin ligase deficiency" }, { "id": "MONDO:0013245", "name": "autoimmune disease, multisystem, with facial dysmorphism" }, { "id": "MONDO:0013245", "name": "autoimmune disease, syndromic multisystem" }, { "id": "MONDO:0013245", "name": "syndromic multisystem autoimmune disease" }, { "id": "MIM:613385", "name": "Autoimmune disease, multisystem, with facial dysmorphism" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013245", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013251", "disease_id": "MONDO:0013251", "recommended_name": "Birbeck granule deficiency", "synonyms": [ { "id": "MONDO:0013251", "name": "Birbeck granule deficiency" }, { "id": "MIM:613393", "name": "Birbeck granule deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013251", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013253", "disease_id": "MONDO:0013253", "recommended_name": "breast-ovarian cancer, familial, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0013253", "name": "RAD51C hereditary breast ovarian cancer syndrome" }, { "id": "MONDO:0013253", "name": "Rad51C hereditary breast ovarian cancer syndrome" }, { "id": "MONDO:0013253", "name": "breast-ovarian cancer, familial, susceptibility to, 3" }, { "id": "MONDO:0013253", "name": "breast-ovarian cancer, familial, susceptibility to, type 3" }, { "id": "MONDO:0013253", "name": "hereditary breast ovarian cancer syndrome caused by mutation in RAD51C" }, { "id": "MONDO:0013253", "name": "hereditary breast ovarian cancer syndrome caused by mutation in Rad51C" }, { "id": "MONDO:0013253", "name": "BROVCA3" }, { "id": "MIM:613399", "name": "Breast-ovarian cancer, familial, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013253", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013258", "disease_id": "MONDO:0013258", "recommended_name": "autism, susceptibility to, 16", "synonyms": [ { "id": "MONDO:0013258", "name": "autism susceptibility 16" }, { "id": "MONDO:0013258", "name": "autism, susceptibility to, 16" }, { "id": "MONDO:0013258", "name": "autism, susceptibility to, type 16" }, { "id": "MONDO:0013258", "name": "AUTS16" }, { "id": "MIM:613410", "name": "Autism 16" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013258", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013265", "disease_id": "MONDO:0013265", "recommended_name": "autism, susceptibility to, 17", "synonyms": [ { "id": "MONDO:0013265", "name": "autism susceptibility 17" }, { "id": "MONDO:0013265", "name": "autism, susceptibility to, 17" }, { "id": "MONDO:0013265", "name": "autism, susceptibility to, type 17" }, { "id": "MONDO:0013265", "name": "AUTS17" }, { "id": "MIM:613436", "name": "Autism 17" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013265", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013276", "disease_id": "MONDO:0013276", "recommended_name": "Reynolds syndrome", "synonyms": [ { "id": "MONDO:0013276", "name": "Reynolds syndrome" }, { "id": "MONDO:0013276", "name": "primary biliary cirrhosis and systemic scleroderma" }, { "id": "MIM:613471", "name": "Reynolds syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013276", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013301", "disease_id": "MONDO:0013301", "recommended_name": "aromatase deficiency", "synonyms": [ { "id": "MONDO:0013301", "name": "aromatase deficiency" }, { "id": "MONDO:0013301", "name": "congenital estrogen deficiency" }, { "id": "MONDO:0013301", "name": "congenital oestrogen deficiency" }, { "id": "MIM:613546", "name": "Aromatase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013301", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013303", "disease_id": "MONDO:0013303", "recommended_name": "autoimmune disease, susceptibility to, 6", "synonyms": [ { "id": "MONDO:0013303", "name": "SIAE autoimmune disease" }, { "id": "MONDO:0013303", "name": "autoimmune disease caused by mutation in SIAE" }, { "id": "MONDO:0013303", "name": "autoimmune disease, susceptibility to, 6" }, { "id": "MONDO:0013303", "name": "autoimmune disease, susceptibility to, type 6" }, { "id": "MONDO:0013303", "name": "AIS6" }, { "id": "MIM:613551", "name": "Autoimmune disease 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013303", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013308", "disease_id": "MONDO:0013308", "recommended_name": "CBL-related disorder", "synonyms": [ { "id": "MONDO:0013308", "name": "CBL-related disorder" }, { "id": "MONDO:0013308", "name": "Cbl syndrome" }, { "id": "MONDO:0013308", "name": "Noonan syndrome-like disorder with JMML" }, { "id": "MONDO:0013308", "name": "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" }, { "id": "MONDO:0013308", "name": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" }, { "id": "MONDO:0013308", "name": "Noonan-like syndrome" }, { "id": "MONDO:0013308", "name": "NSLL" }, { "id": "MONDO:0013308", "name": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia" }, { "id": "MONDO:0013308", "name": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" }, { "id": "MIM:613563", "name": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013308", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013324", "disease_id": "MONDO:0013324", "recommended_name": "lymphedema-posterior choanal atresia syndrome", "synonyms": [ { "id": "MONDO:0013324", "name": "CATLPH" }, { "id": "MIM:613611", "name": "Choanal atresia and lymphedema" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013324", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013331", "disease_id": "MONDO:0013331", "recommended_name": "factor 5 and Factor VIII, combined deficiency of, 2", "synonyms": [ { "id": "MONDO:0013331", "name": "MCFD2 combined deficiency of factor V and factor VIII" }, { "id": "MONDO:0013331", "name": "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" }, { "id": "MONDO:0013331", "name": "factor 5 and Factor VIII, combined deficiency of, 2" }, { "id": "MONDO:0013331", "name": "factor 5 and Factor VIII, combined deficiency of, type 2" }, { "id": "MONDO:0013331", "name": "factor V and factor VIII, combined deficiency of" }, { "id": "MONDO:0013331", "name": "F5F8D2" }, { "id": "MONDO:0013331", "name": "factor V and factor VIII, combined deficiency of, 2" }, { "id": "MIM:613625", "name": "Factor V and factor VIII combined deficiency 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013331", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013340", "disease_id": "MONDO:0013340", "recommended_name": "Parkinson disease 5, autosomal dominant, susceptibility to", "synonyms": [ { "id": "MONDO:0013340", "name": "Parkinson disease 5, autosomal dominant, susceptibility to" }, { "id": "MONDO:0013340", "name": "Parkinson disease 5, susceptibility to" }, { "id": "MONDO:0013340", "name": "UCHL1 young-onset Parkinson disease" }, { "id": "MONDO:0013340", "name": "young-onset Parkinson disease caused by mutation in UCHL1" }, { "id": "MONDO:0013340", "name": "PARK5" }, { "id": "MIM:613643", "name": "Parkinson disease 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013340", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013344", "disease_id": "MONDO:0013344", "recommended_name": "migraine, with or without aura, susceptibility to, 13", "synonyms": [ { "id": "MONDO:0013344", "name": "KCNK18 migraine disorder" }, { "id": "MONDO:0013344", "name": "migraine disorder caused by mutation in KCNK18" }, { "id": "MONDO:0013344", "name": "migraine, with or without aura, susceptibility to, 13" }, { "id": "MONDO:0013344", "name": "migraine, with or without aura, susceptibility to, type 13" }, { "id": "MONDO:0013344", "name": "MGR13" }, { "id": "MIM:613656", "name": "Migraine with or without aura 13" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013344", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013353", "disease_id": "MONDO:0013353", "recommended_name": "intellectual disability, anterior maxillary protrusion, and strabismus", "synonyms": [ { "id": "MONDO:0013353", "name": "intellectual disability, anterior maxillary protrusion, and strabismus" }, { "id": "MONDO:0013353", "name": "MRAMS" }, { "id": "MONDO:0013353", "name": "mental retardation, anterior maxillary protrusion, and strabismus" }, { "id": "MIM:613671", "name": "Impaired intellectual development, anterior maxillary protrusion, and strabismus" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013353", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013362", "disease_id": "MONDO:0013362", "recommended_name": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome", "synonyms": [ { "id": "MONDO:0013362", "name": "BBIS" }, { "id": "MONDO:0013362", "name": "Beaulieu-Boycott-Innes syndrome" }, { "id": "MONDO:0013362", "name": "BEAULIEU-BOYCOTT-Innes syndrome" }, { "id": "MONDO:0013362", "name": "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" }, { "id": "MIM:613680", "name": "Beaulieu-Boycott-Innes syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013362", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013376", "disease_id": "MONDO:0013376", "recommended_name": "microphthalmia, isolated, with coloboma 6", "synonyms": [ { "id": "MONDO:0013376", "name": "microphthalmia with coloboma 6" }, { "id": "MONDO:0013376", "name": "microphthalmia with coloboma 6, digenic" }, { "id": "MONDO:0013376", "name": "microphthalmia, isolated, with coloboma 6" }, { "id": "MONDO:0013376", "name": "microphthalmia, isolated, with coloboma type 6" }, { "id": "MONDO:0013376", "name": "MCOPCB6" }, { "id": "MIM:613703", "name": "Microphthalmia/Coloboma 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013376", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013382", "disease_id": "MONDO:0013382", "recommended_name": "progressive demyelinating neuropathy with bilateral striatal necrosis", "synonyms": [ { "id": "MONDO:0013382", "name": "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" }, { "id": "MONDO:0013382", "name": "THMD4" }, { "id": "MONDO:0013382", "name": "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" }, { "id": "MIM:613710", "name": "Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013382", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013383", "disease_id": "MONDO:0013383", "recommended_name": "Hirschsprung disease, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0013383", "name": "GDNF Hirschsprung disease" }, { "id": "MONDO:0013383", "name": "Hirschsprung disease caused by mutation in GDNF" }, { "id": "MONDO:0013383", "name": "Hirschsprung disease, susceptibility to, 3" }, { "id": "MONDO:0013383", "name": "Hirschsprung disease, susceptibility to, type 3" }, { "id": "MONDO:0013383", "name": "HSCR3" }, { "id": "MONDO:0013383", "name": "Hirschsprung disease modifier" }, { "id": "MONDO:0013383", "name": "Hirschsprung disease type 3" }, { "id": "MIM:613711", "name": "Hirschsprung disease 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013383", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013384", "disease_id": "MONDO:0013384", "recommended_name": "Hirschsprung disease, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0013384", "name": "EDN3 Hirschsprung disease" }, { "id": "MONDO:0013384", "name": "Hirschsprung disease caused by mutation in EDN3" }, { "id": "MONDO:0013384", "name": "Hirschsprung disease, susceptibility to, 4" }, { "id": "MONDO:0013384", "name": "Hirschsprung disease, susceptibility to, type 4" }, { "id": "MONDO:0013384", "name": "HSCR4" }, { "id": "MIM:613712", "name": "Hirschsprung disease 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013384", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013391", "disease_id": "MONDO:0013391", "recommended_name": "sterol carrier protein 2 deficiency", "synonyms": [ { "id": "MONDO:0013391", "name": "SCP2 deficiency" }, { "id": "MONDO:0013391", "name": "leukoencephalopathy-dystonia-motor neuropathy syndrome" }, { "id": "MONDO:0013391", "name": "sterol carrier protein 2 deficiency" }, { "id": "MONDO:0013391", "name": "LKDMN" }, { "id": "MONDO:0013391", "name": "leukoencephalopathy - dystonia - motor neuropathy" }, { "id": "MIM:613724", "name": "Leukoencephalopathy with dystonia and motor neuropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013391", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013394", "disease_id": "MONDO:0013394", "recommended_name": "porencephaly-microcephaly-bilateral congenital cataract syndrome", "synonyms": [ { "id": "MONDO:0013394", "name": "porencephaly-microcephaly-bilateral congenital cataract syndrome" }, { "id": "MONDO:0013394", "name": "HDBSCC" }, { "id": "MONDO:0013394", "name": "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" }, { "id": "MIM:613730", "name": "Hemorrhagic destruction of the brain with subependymal calcification and cataracts" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013394", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013419", "disease_id": "MONDO:0013419", "recommended_name": "complement component C1s deficiency", "synonyms": [ { "id": "MONDO:0013419", "name": "complement component C1s deficiency" }, { "id": "MONDO:0013419", "name": "C1SD" }, { "id": "MIM:613783", "name": "Complement component C1s deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013419", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013423", "disease_id": "MONDO:0013423", "recommended_name": "immunodeficiency due to MASP-2 deficiency", "synonyms": [ { "id": "MONDO:0013423", "name": "immunodeficiency due to MASP-2 deficiency" }, { "id": "MIM:613791", "name": "MASP2 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013423", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013452", "disease_id": "MONDO:0013452", "recommended_name": "multisystemic smooth muscle dysfunction syndrome", "synonyms": [ { "id": "MONDO:0013452", "name": "ACTA2-related smooth muscle dysfunction syndrome" }, { "id": "MONDO:0013452", "name": "multisystemic smooth muscle dysfunction syndrome" }, { "id": "MONDO:0013452", "name": "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" }, { "id": "MIM:613834", "name": "Smooth muscle dysfunction syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013452", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013458", "disease_id": "MONDO:0013458", "recommended_name": "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome", "synonyms": [ { "id": "MONDO:0013458", "name": "HUPRA syndrome" }, { "id": "MONDO:0013458", "name": "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" }, { "id": "MONDO:0013458", "name": "HUPRAS" }, { "id": "MONDO:0013458", "name": "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" }, { "id": "MIM:613845", "name": "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013458", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013461", "disease_id": "MONDO:0013461", "recommended_name": "inosine triphosphatase deficiency", "synonyms": [ { "id": "MONDO:0013461", "name": "inosine triphosphatase deficiency" }, { "id": "MIM:613850", "name": "Inosine triphosphate pyrophosphohydrolase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013461", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013462", "disease_id": "MONDO:0013462", "recommended_name": "fucosyltransferase 6 deficiency", "synonyms": [ { "id": "MONDO:0013462", "name": "fucosyltransferase 6 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013462", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013467", "disease_id": "MONDO:0013467", "recommended_name": "immunodeficiency due to ficolin3 deficiency", "synonyms": [ { "id": "MIM:613860", "name": "Ficolin 3 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013467", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013473", "disease_id": "MONDO:0013473", "recommended_name": "Hirschsprung disease, cardiac defects, and autonomic dysfunction", "synonyms": [ { "id": "MONDO:0013473", "name": "Hirschsprung disease, cardiac defects, and autonomic dysfunction" }, { "id": "MONDO:0013473", "name": "HCAD" }, { "id": "MIM:613870", "name": "Hirschsprung disease, cardiac defects, and autonomic dysfunction" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013473", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013483", "disease_id": "MONDO:0013483", "recommended_name": "obesity, hyperphagia, and developmental delay", "synonyms": [ { "id": "MONDO:0013483", "name": "obesity, hyperphagia, and developmental delay" }, { "id": "MONDO:0013483", "name": "OBHD" }, { "id": "MIM:613886", "name": "Obesity, hyperphagia, and developmental delay" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013483", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013487", "disease_id": "MONDO:0013487", "recommended_name": "recurrent Neisseria infections due to factor D deficiency", "synonyms": [ { "id": "MONDO:0013487", "name": "recurrent Neisseria infections due to factor D deficiency" }, { "id": "MONDO:0013487", "name": "CFDD" }, { "id": "MONDO:0013487", "name": "complement factor D deficiency" }, { "id": "MIM:613912", "name": "Complement factor D deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013487", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013493", "disease_id": "MONDO:0013493", "recommended_name": "acetyl-coa carboxylase deficiency", "synonyms": [ { "id": "MONDO:0013493", "name": "ACACAD" }, { "id": "MONDO:0013493", "name": "ACETYL-CoA carboxylase deficiency" }, { "id": "MIM:613933", "name": "Acetyl-CoA carboxylase-alpha deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013493", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013497", "disease_id": "MONDO:0013497", "recommended_name": "Okt4 epitope deficiency", "synonyms": [ { "id": "MONDO:0013497", "name": "Okt4 epitope deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013497", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013510", "disease_id": "MONDO:0013510", "recommended_name": "melanoma, cutaneous malignant, susceptibility to, 6", "synonyms": [ { "id": "MONDO:0013510", "name": "melanoma, cutaneous malignant, 6" }, { "id": "MONDO:0013510", "name": "melanoma, cutaneous malignant, susceptibility to, 6" }, { "id": "MONDO:0013510", "name": "melanoma, cutaneous malignant, susceptibility to, type 6" }, { "id": "MONDO:0013510", "name": "CMM6" }, { "id": "MIM:613972", "name": "Melanoma, cutaneous malignant 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013510", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013511", "disease_id": "MONDO:0013511", "recommended_name": "cyanosis, transient neonatal", "synonyms": [ { "id": "MONDO:0013511", "name": "cyanosis, transient neonatal" }, { "id": "MONDO:0013511", "name": "TNCY" }, { "id": "MIM:613977", "name": "Cyanosis transient neonatal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013511", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013533", "disease_id": "MONDO:0013533", "recommended_name": "hyperlipidemia due to hepatic triglyceride lipase deficiency", "synonyms": [ { "id": "MONDO:0013533", "name": "hyperlipidemia due to HL deficiency" }, { "id": "MONDO:0013533", "name": "hyperlipidemia due to HTGL deficiency" }, { "id": "MONDO:0013533", "name": "hyperlipidemia due to hepatic lipase deficiency" }, { "id": "MIM:614025", "name": "Hepatic lipase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013533", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013536", "disease_id": "MONDO:0013536", "recommended_name": "heme oxygenase 1 deficiency", "synonyms": [ { "id": "MONDO:0013536", "name": "heme oxygenase 1 deficiency" }, { "id": "MONDO:0013536", "name": "heme oxygenase-1 deficiency" }, { "id": "MONDO:0013536", "name": "HMOX1D" }, { "id": "MIM:614034", "name": "Heme oxygenase 1 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013536", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013540", "disease_id": "MONDO:0013540", "recommended_name": "deafness-lymphedema-leukemia syndrome", "synonyms": [ { "id": "MONDO:0013540", "name": "Emberger syndrome" }, { "id": "MONDO:0013540", "name": "deafness-lymphedema-leukemia syndrome" }, { "id": "MIM:614038", "name": "Lymphedema, primary, with myelodysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013540", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013549", "disease_id": "MONDO:0013549", "recommended_name": "N-acetylaspartate deficiency", "synonyms": [ { "id": "MONDO:0013549", "name": "N-acetylaspartate deficiency" }, { "id": "MONDO:0013549", "name": "NACED" }, { "id": "MIM:614063", "name": "N-acetylaspartate deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013549", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013562", "disease_id": "MONDO:0013562", "recommended_name": "aspergillosis, susceptibility to", "synonyms": [ { "id": "MONDO:0013562", "name": "aspergillosis, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013562", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013564", "disease_id": "MONDO:0013564", "recommended_name": "anhaptoglobinemia", "synonyms": [ { "id": "MONDO:0013564", "name": "anhaptoglobinemia" }, { "id": "MONDO:0013564", "name": "hypohaptoglobinemia" }, { "id": "MONDO:0013564", "name": "AHP" }, { "id": "MONDO:0013564", "name": "ANHAPTOGLOBINEMIA" }, { "id": "MIM:614081", "name": "Anhaptoglobinemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013564", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013568", "disease_id": "MONDO:0013568", "recommended_name": "sick sinus syndrome 3, susceptibility to", "synonyms": [ { "id": "MONDO:0013568", "name": "MYH6 familial sick sinus syndrome" }, { "id": "MONDO:0013568", "name": "familial sick sinus syndrome caused by mutation in MYH6" }, { "id": "MONDO:0013568", "name": "sick sinus syndrome 3" }, { "id": "MONDO:0013568", "name": "sick sinus syndrome 3, susceptibility to" }, { "id": "MONDO:0013568", "name": "SSS3" }, { "id": "MIM:614090", "name": "Sick sinus syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013568", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013572", "disease_id": "MONDO:0013572", "recommended_name": "Keppen-Lubinsky syndrome", "synonyms": [ { "id": "MONDO:0013572", "name": "Keppen-Lubinsky syndrome" }, { "id": "MONDO:0013572", "name": "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" }, { "id": "MONDO:0013572", "name": "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" }, { "id": "MONDO:0013572", "name": "KPLBS" }, { "id": "MIM:614098", "name": "Keppen-Lubinsky syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013572", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013576", "disease_id": "MONDO:0013576", "recommended_name": "recurrent infections associated with rare immunoglobulin isotypes deficiency", "synonyms": [ { "id": "MONDO:0013576", "name": "IgG subclass deficiency with IgA subclass deficiency" }, { "id": "MONDO:0013576", "name": "isolated IgG subclass deficiency" }, { "id": "MONDO:0013576", "name": "kappa-chain deficiency" }, { "id": "MONDO:0013576", "name": "recurrent infections associated with rare immunoglobulin isotypes deficiency" }, { "id": "MONDO:0013576", "name": "IGKCD" }, { "id": "MONDO:0013576", "name": "IMMUNOGLOBULIN kappa LIGHT chain deficiency" }, { "id": "MIM:614102", "name": "Immunoglobulin kappa light chain deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013576", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013579", "disease_id": "MONDO:0013579", "recommended_name": "methylmalonate semialdehyde dehydrogenase deficiency", "synonyms": [ { "id": "MONDO:0013579", "name": "developmental delay due to ALDH6A1 deficiency" }, { "id": "MONDO:0013579", "name": "developmental delay due to MMSDH deficiency" }, { "id": "MONDO:0013579", "name": "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" }, { "id": "MONDO:0013579", "name": "methylmalonate semialdehyde dehydrogenase deficiency" }, { "id": "MONDO:0013579", "name": "MMSDHD" }, { "id": "MIM:614105", "name": "Methylmalonate semialdehyde dehydrogenase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013579", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013583", "disease_id": "MONDO:0013583", "recommended_name": "occipital pachygyria and polymicrogyria", "synonyms": [ { "id": "MONDO:0013583", "name": "occipital MCD" }, { "id": "MONDO:0013583", "name": "occipital malformations of cortical development" }, { "id": "MONDO:0013583", "name": "OCCM" }, { "id": "MONDO:0013583", "name": "cortical malformations, occipital" }, { "id": "MIM:614115", "name": "Cortical malformations occipital" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013583", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013586", "disease_id": "MONDO:0013586", "recommended_name": "obsolete Chitotriosidase deficiency", "synonyms": [ { "id": "MONDO:0013586", "name": "Chitotriosidase deficiency" }, { "id": "MONDO:0013586", "name": "chitotriosidase deficiency" }, { "id": "MONDO:0013586", "name": "CHITD" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013586", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013587", "disease_id": "MONDO:0013587", "recommended_name": "glycogen storage disease due to lactate dehydrogenase H-subunit deficiency", "synonyms": [ { "id": "MONDO:0013587", "name": "GSD due to lactate dehydrogenase H-subunit deficiency" }, { "id": "MONDO:0013587", "name": "LDH-H subunit deficiency" }, { "id": "MONDO:0013587", "name": "glycogenosis due to lactate dehydrogenase H-subunit deficiency" }, { "id": "MONDO:0013587", "name": "lactate dehydrogenase B deficiency" }, { "id": "MONDO:0013587", "name": "lactate dehydrogenase-B deficiency" }, { "id": "MONDO:0013587", "name": "LDH deficiency B" }, { "id": "MONDO:0013587", "name": "LDHBD" }, { "id": "MONDO:0013587", "name": "lactate dehydrogenase deficiency type B" }, { "id": "MIM:614128", "name": "Lactate dehydrogenase B deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013587", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013590", "disease_id": "MONDO:0013590", "recommended_name": "Stickler syndrome, type 4", "synonyms": [ { "id": "MONDO:0013590", "name": "COL9A1 autosomal recessive Stickler syndrome" }, { "id": "MONDO:0013590", "name": "autosomal recessive Stickler syndrome caused by mutation in COL9A1" }, { "id": "MONDO:0013590", "name": "STICKLER syndrome, type IV" }, { "id": "MONDO:0013590", "name": "STL4" }, { "id": "MIM:614134", "name": "Stickler syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013590", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013595", "disease_id": "MONDO:0013595", "recommended_name": "hyperbiliverdinemia", "synonyms": [ { "id": "MONDO:0013595", "name": "green jaundice" }, { "id": "MONDO:0013595", "name": "hyperbiliverdinemia" }, { "id": "MONDO:0013595", "name": "HBLVD" }, { "id": "MIM:614156", "name": "Hyperbiliverdinemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013595", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013609", "disease_id": "MONDO:0013609", "recommended_name": "Meckel syndrome, type 10", "synonyms": [ { "id": "MONDO:0013609", "name": "B9D2 Meckel syndrome" }, { "id": "MONDO:0013609", "name": "Meckel syndrome caused by mutation in B9D2" }, { "id": "MONDO:0013609", "name": "Meckel syndrome, type 10" }, { "id": "MONDO:0013609", "name": "meckel syndrome 10" }, { "id": "MONDO:0013609", "name": "JBTS34" }, { "id": "MONDO:0013609", "name": "Joubert syndrome 34" }, { "id": "MONDO:0013609", "name": "MKS10" }, { "id": "MIM:614175", "name": "Joubert syndrome 34" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013609", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0013615", "disease_id": "MONDO:0013615", "recommended_name": "craniosynostosis and dental anomalies", "synonyms": [ { "id": "MONDO:0013615", "name": "Kreiborg-Pakistani syndrome" }, { "id": "MONDO:0013615", "name": "craniosynostosis and dental anomalies" }, { "id": "MONDO:0013615", "name": "CRSDA" }, { "id": "MIM:614188", "name": "Craniosynostosis and dental anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013615", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013618", "disease_id": "MONDO:0013618", "recommended_name": "craniofacial anomalies and anterior segment dysgenesis syndrome", "synonyms": [ { "id": "MONDO:0013618", "name": "craniofacial anomalies and anterior segment dysgenesis syndrome" }, { "id": "MONDO:0013618", "name": "CAASDS" }, { "id": "MIM:614195", "name": "Craniofacial anomalies and anterior segment dysgenesis syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013618", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013630", "disease_id": "MONDO:0013630", "recommended_name": "Meckel syndrome, type 9", "synonyms": [ { "id": "MONDO:0013630", "name": "B9D1 Meckel syndrome" }, { "id": "MONDO:0013630", "name": "Meckel syndrome caused by mutation in B9D1" }, { "id": "MONDO:0013630", "name": "Meckel syndrome, type 9" }, { "id": "MONDO:0013630", "name": "meckel syndrome 9" }, { "id": "MONDO:0013630", "name": "MKS9" }, { "id": "MIM:614209", "name": "Meckel syndrome 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013630", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0013633", "disease_id": "MONDO:0013633", "recommended_name": "encephalopathy, acute, infection-induced, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0013633", "name": "CPT2 encephalopathy, acute, infection-induced" }, { "id": "MONDO:0013633", "name": "encephalopathy, acute, infection-induced caused by mutation in CPT2" }, { "id": "MONDO:0013633", "name": "encephalopathy, acute, infection-induced, 4, susceptibility to" }, { "id": "MONDO:0013633", "name": "encephalopathy, acute, infection-induced, susceptibility to, 4" }, { "id": "MONDO:0013633", "name": "encephalopathy, acute, infection-induced, susceptibility to, type 4" }, { "id": "MONDO:0013633", "name": "IIAE4" }, { "id": "MIM:614212", "name": "Encephalopathy, acute, infection-induced, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013633", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013640", "disease_id": "MONDO:0013640", "recommended_name": "familial retinal arterial macroaneurysm", "synonyms": [ { "id": "MONDO:0013640", "name": "FRAM" }, { "id": "MONDO:0013640", "name": "Fram" }, { "id": "MONDO:0013640", "name": "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" }, { "id": "MONDO:0013640", "name": "RAMSVPS" }, { "id": "MONDO:0013640", "name": "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" }, { "id": "MIM:614224", "name": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013640", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013653", "disease_id": "MONDO:0013653", "recommended_name": "Parkinson disease 18, autosomal dominant, susceptibility to", "synonyms": [ { "id": "MONDO:0013653", "name": "EIF4G1 hereditary late onset Parkinson disease" }, { "id": "MONDO:0013653", "name": "Parkinson disease 18" }, { "id": "MONDO:0013653", "name": "Parkinson disease 18, autosomal dominant, susceptibility to" }, { "id": "MONDO:0013653", "name": "hereditary late onset Parkinson disease caused by mutation in EIF4G1" }, { "id": "MONDO:0013653", "name": "PARK18" }, { "id": "MIM:614251", "name": "Parkinson disease 18" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013653", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013659", "disease_id": "MONDO:0013659", "recommended_name": "microcephaly-capillary malformation syndrome", "synonyms": [ { "id": "MONDO:0013659", "name": "MIC-CAP syndrome" }, { "id": "MONDO:0013659", "name": "MIC-CM syndrome" }, { "id": "MONDO:0013659", "name": "microcephaly-capillary malformation syndrome" }, { "id": "MONDO:0013659", "name": "microcephaly-cutaneous capillary malformation syndrome" }, { "id": "MONDO:0013659", "name": "MICCAP" }, { "id": "MIM:614261", "name": "Microcephaly-capillary malformation syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013659", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013660", "disease_id": "MONDO:0013660", "recommended_name": "arthrogryposis, Perthes disease, and upward gaze palsy", "synonyms": [ { "id": "MONDO:0013660", "name": "arthrogryposis, Perthes disease, and upward gaze palsy" }, { "id": "MONDO:0013660", "name": "APUG" }, { "id": "MIM:614262", "name": "Arthrogryposis, Perthes disease, and upward gaze palsy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013660", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013663", "disease_id": "MONDO:0013663", "recommended_name": "platelet-activating factor acetylhydrolase deficiency", "synonyms": [ { "id": "MONDO:0013663", "name": "platelet-activating factor acetylhydrolase deficiency" }, { "id": "MONDO:0013663", "name": "platelet-activating factor acetylhydrolase deficiency (disease)" }, { "id": "MONDO:0013663", "name": "PAFAD" }, { "id": "MIM:614278", "name": "Platelet-activating factor acetylhydrolase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013663", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013666", "disease_id": "MONDO:0013666", "recommended_name": "Stickler syndrome, type 5", "synonyms": [ { "id": "MONDO:0013666", "name": "COL9A2 autosomal recessive Stickler syndrome" }, { "id": "MONDO:0013666", "name": "autosomal recessive Stickler syndrome caused by mutation in COL9A2" }, { "id": "MONDO:0013666", "name": "STICKLER syndrome, type V" }, { "id": "MONDO:0013666", "name": "STL5" }, { "id": "MIM:614284", "name": "Stickler syndrome 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013666", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013669", "disease_id": "MONDO:0013669", "recommended_name": "breast-ovarian cancer, familial, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0013669", "name": "RAD51D hereditary breast ovarian cancer syndrome" }, { "id": "MONDO:0013669", "name": "breast-ovarian cancer, familial, susceptibility to, 4" }, { "id": "MONDO:0013669", "name": "breast-ovarian cancer, familial, susceptibility to, type 4" }, { "id": "MONDO:0013669", "name": "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" }, { "id": "MONDO:0013669", "name": "BROVCA4" }, { "id": "MIM:614291", "name": "Breast-ovarian cancer, familial, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013669", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013670", "disease_id": "MONDO:0013670", "recommended_name": "myopia, high, with cataract and vitreoretinal degeneration", "synonyms": [ { "id": "MONDO:0013670", "name": "myopia, high, with cataract and vitreoretinal degeneration" }, { "id": "MONDO:0013670", "name": "MCVD" }, { "id": "MIM:614292", "name": "Myopia, high, with cataract and vitreoretinal degeneration" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013670", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013680", "disease_id": "MONDO:0013680", "recommended_name": "cognitive impairment with or without cerebellar ataxia", "synonyms": [ { "id": "MONDO:0013680", "name": "cognitive impairment with or without cerebellar ataxia" }, { "id": "MONDO:0013680", "name": "CIAT" }, { "id": "MIM:614306", "name": "Cognitive impairment with or without cerebellar ataxia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013680", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013685", "disease_id": "MONDO:0013685", "recommended_name": "pancreatic cancer, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0013685", "name": "BRCA1 familial pancreatic carcinoma" }, { "id": "MONDO:0013685", "name": "familial pancreatic carcinoma caused by mutation in BRCA1" }, { "id": "MONDO:0013685", "name": "pancreatic cancer, susceptibility to, 4" }, { "id": "MONDO:0013685", "name": "pancreatic cancer, susceptibility to, type 4" }, { "id": "MONDO:0013685", "name": "PNCA4" }, { "id": "MIM:614320", "name": "Pancreatic cancer 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013685", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013692", "disease_id": "MONDO:0013692", "recommended_name": "BAP1-related tumor predisposition syndrome", "synonyms": [ { "id": "MONDO:0013692", "name": "BAP1-related tumor predisposition syndrome" }, { "id": "MONDO:0013692", "name": "tumor susceptibility linked to germline BAP1 mutations" }, { "id": "MONDO:0013692", "name": "tumour susceptibility linked to germline BAP1 mutations" }, { "id": "MONDO:0013692", "name": "BAP1 tumor predisposition syndrome" }, { "id": "MONDO:0013692", "name": "BAP1 tumour predisposition syndrome" }, { "id": "MONDO:0013692", "name": "TPDS" }, { "id": "MONDO:0013692", "name": "tumor predisposition syndrome" }, { "id": "MONDO:0013692", "name": "tumour predisposition syndrome" }, { "id": "MIM:614327", "name": "Tumor predisposition syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013692", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013700", "disease_id": "MONDO:0013700", "recommended_name": "pancreatic triacylglycerol lipase deficiency", "synonyms": [ { "id": "MONDO:0013700", "name": "pancreatic triglyceride lipase deficiency" }, { "id": "MONDO:0013700", "name": "PNLIPD" }, { "id": "MONDO:0013700", "name": "pancreatic lipase deficiency" }, { "id": "MIM:614338", "name": "Pancreatic lipase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013700", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013711", "disease_id": "MONDO:0013711", "recommended_name": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "synonyms": [ { "id": "MONDO:0013711", "name": "PNMHH" }, { "id": "MONDO:0013711", "name": "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" }, { "id": "MONDO:0013711", "name": "peripheral neuropathy, myopathy, hoarseness, and hearing loss" }, { "id": "MIM:614369", "name": "Peripheral neuropathy, myopathy, hoarseness, and hearing loss" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013711", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013713", "disease_id": "MONDO:0013713", "recommended_name": "dengue virus, susceptibility to", "synonyms": [ { "id": "MONDO:0013713", "name": "dengue virus, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013713", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013714", "disease_id": "MONDO:0013714", "recommended_name": "mannose-binding lectin deficiency", "synonyms": [ { "id": "MONDO:0013714", "name": "mannose-binding lectin deficiency" }, { "id": "MONDO:0013714", "name": "mannose-binding protein deficiency" }, { "id": "MONDO:0013714", "name": "MBLD" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013714", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013723", "disease_id": "MONDO:0013723", "recommended_name": "bacteremia, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0013723", "name": "TIRAP bacteremia, susceptibility" }, { "id": "MONDO:0013723", "name": "bacteremia, protection against" }, { "id": "MONDO:0013723", "name": "bacteremia, susceptibility caused by mutation in TIRAP" }, { "id": "MONDO:0013723", "name": "bacteremia, susceptibility to, 1" }, { "id": "MONDO:0013723", "name": "bacteremia, susceptibility to, type 1" }, { "id": "MONDO:0013723", "name": "BACTS1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013723", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013724", "disease_id": "MONDO:0013724", "recommended_name": "bacteremia, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0013724", "name": "CISH bacteremia, susceptibility" }, { "id": "MONDO:0013724", "name": "bacteremia, susceptibility caused by mutation in CISH" }, { "id": "MONDO:0013724", "name": "bacteremia, susceptibility to" }, { "id": "MONDO:0013724", "name": "bacteremia, susceptibility to, 2" }, { "id": "MONDO:0013724", "name": "bacteremia, susceptibility to, type 2" }, { "id": "MONDO:0013724", "name": "BACTS2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013724", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013727", "disease_id": "MONDO:0013727", "recommended_name": "pregnancy loss, recurrent, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0013727", "name": "F5 pregnancy loss, recurrent, susceptibility" }, { "id": "MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility caused by mutation in F5" }, { "id": "MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility to, 1" }, { "id": "MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility to, type 1" }, { "id": "MONDO:0013727", "name": "RPRGL1" }, { "id": "MONDO:0013727", "name": "foetal loss, recurrent, susceptibility to" }, { "id": "MIM:614389", "name": "Pregnancy loss, recurrent, 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013727", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013728", "disease_id": "MONDO:0013728", "recommended_name": "pregnancy loss, recurrent, susceptibility to, 2", "synonyms": [ { "id": "MONDO:0013728", "name": "F2 pregnancy loss, recurrent, susceptibility" }, { "id": "MONDO:0013728", "name": "pregnancy loss, recurrent, susceptibility caused by mutation in F2" }, { "id": "MONDO:0013728", "name": "pregnancy loss, recurrent, susceptibility to, 2" }, { "id": "MONDO:0013728", "name": "pregnancy loss, recurrent, susceptibility to, type 2" }, { "id": "MONDO:0013728", "name": "RPRGL2" }, { "id": "MIM:614390", "name": "Pregnancy loss, recurrent, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013728", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013729", "disease_id": "MONDO:0013729", "recommended_name": "pregnancy loss, recurrent, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0013729", "name": "ANXA5 pregnancy loss, recurrent, susceptibility" }, { "id": "MONDO:0013729", "name": "pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5" }, { "id": "MONDO:0013729", "name": "pregnancy loss, recurrent, susceptibility to, 3" }, { "id": "MONDO:0013729", "name": "pregnancy loss, recurrent, susceptibility to, type 3" }, { "id": "MONDO:0013729", "name": "RPRGL3" }, { "id": "MIM:614391", "name": "Pregnancy loss, recurrent, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013729", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013732", "disease_id": "MONDO:0013732", "recommended_name": "glucocorticoid therapy, response to", "synonyms": [ { "id": "MONDO:0013732", "name": "glucocorticoid therapy, response to" }, { "id": "MONDO:0013732", "name": "GCTR" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013732", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013733", "disease_id": "MONDO:0013733", "recommended_name": "obsolete accelerated tumor formation, susceptibility to", "synonyms": [ { "id": "MONDO:0013733", "name": "accelerated tumor formation, susceptibility to" }, { "id": "MONDO:0013733", "name": "ACTFS" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013733", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013740", "disease_id": "MONDO:0013740", "recommended_name": "lethal occipital encephalocele-skeletal dysplasia syndrome", "synonyms": [ { "id": "MONDO:0013740", "name": "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" }, { "id": "MONDO:0013740", "name": "RHFCA" }, { "id": "MONDO:0013740", "name": "radiohumeral fusions with other skeletal and craniofacial anomalies" }, { "id": "MIM:614416", "name": "Radiohumeral fusions with other skeletal and craniofacial anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013740", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013756", "disease_id": "MONDO:0013756", "recommended_name": "hypertrophic osteoarthropathy, primary, autosomal recessive, 2", "synonyms": [ { "id": "MONDO:0013756", "name": "SLCO2A1 primary hypertrophic osteoarthropathy" }, { "id": "MONDO:0013756", "name": "hypertrophic osteoarthropathy, primary, autosomal recessive 2" }, { "id": "MONDO:0013756", "name": "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" }, { "id": "MONDO:0013756", "name": "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" }, { "id": "MONDO:0013756", "name": "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" }, { "id": "MONDO:0013756", "name": "PHOAR2" }, { "id": "MIM:614441", "name": "PHOAR2-enteropathy syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013756", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013759", "disease_id": "MONDO:0013759", "recommended_name": "melanoma, cutaneous malignant, susceptibility to, 8", "synonyms": [ { "id": "MONDO:0013759", "name": "MITF-related melanoma and renal cell carcinoma predisposition syndrome" }, { "id": "MONDO:0013759", "name": "melanoma, cutaneous malignant, susceptibility to, 8" }, { "id": "MONDO:0013759", "name": "melanoma, cutaneous malignant, susceptibility to, type 8" }, { "id": "MONDO:0013759", "name": "CMM8" }, { "id": "MIM:614456", "name": "Melanoma, cutaneous malignant 8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013759", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013760", "disease_id": "MONDO:0013760", "recommended_name": "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome", "synonyms": [ { "id": "MONDO:0013760", "name": "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome" }, { "id": "MONDO:0013760", "name": "ISQMR" }, { "id": "MONDO:0013760", "name": "ichthyosis, spastic quadriplegia, and intellectual disability" }, { "id": "MONDO:0013760", "name": "ichthyosis, spastic quadriplegia, and mental retardation" }, { "id": "MIM:614457", "name": "Ichthyosis, spastic quadriplegia, and impaired intellectual development" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013760", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013761", "disease_id": "MONDO:0013761", "recommended_name": "childhood encephalopathy due to thiamine pyrophosphokinase deficiency", "synonyms": [ { "id": "MONDO:0013761", "name": "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" }, { "id": "MONDO:0013761", "name": "THMD5" }, { "id": "MONDO:0013761", "name": "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" }, { "id": "MIM:614458", "name": "Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013761", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013762", "disease_id": "MONDO:0013762", "recommended_name": "lipoic acid synthetase deficiency", "synonyms": [ { "id": "MONDO:0013762", "name": "HGCLAS" }, { "id": "MONDO:0013762", "name": "PDHLD" }, { "id": "MONDO:0013762", "name": "pyruvate dehydrogenase lipoic acid synthetase deficiency" }, { "id": "MIM:614462", "name": "Hyperglycinemia, lactic acidosis, and seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013762", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013765", "disease_id": "MONDO:0013765", "recommended_name": "coronary heart disease, susceptibility to, 6", "synonyms": [ { "id": "MONDO:0013765", "name": "MMP3 coronary artery disease" }, { "id": "MONDO:0013765", "name": "coronary artery disease caused by mutation in MMP3" }, { "id": "MONDO:0013765", "name": "coronary heart disease, susceptibility to, 6" }, { "id": "MONDO:0013765", "name": "coronary heart disease, susceptibility to, type 6" }, { "id": "MONDO:0013765", "name": "CHDS6" }, { "id": "MIM:614466", "name": "Coronary heart disease 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013765", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013771", "disease_id": "MONDO:0013771", "recommended_name": "transient infantile hypertriglyceridemia and hepatosteatosis", "synonyms": [ { "id": "MONDO:0013771", "name": "transient infantile hypertriglyceridemia and fatty liver" }, { "id": "MONDO:0013771", "name": "transient infantile hypertriglyceridemia and hepatosteatosis" }, { "id": "MONDO:0013771", "name": "HTGTI" }, { "id": "MONDO:0013771", "name": "hypertriglyceridemia, transient infantile" }, { "id": "MIM:614480", "name": "Hypertriglyceridemia, transient infantile" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013771", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013772", "disease_id": "MONDO:0013772", "recommended_name": "Huppke-Brendel syndrome", "synonyms": [ { "id": "MONDO:0013772", "name": "Huppke-Brendel syndrome" }, { "id": "MONDO:0013772", "name": "acetyl CoA transporter deficiency" }, { "id": "MONDO:0013772", "name": "congenital cataract-deafness-severe developmental delay syndrome" }, { "id": "MONDO:0013772", "name": "congenital cataracts, hearing loss, and neurodegeneration" }, { "id": "MONDO:0013772", "name": "lethal neurodegenerative disorder due to copper transport defect" }, { "id": "MONDO:0013772", "name": "CCHLND" }, { "id": "MIM:614482", "name": "Huppke-Brendel syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013772", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013774", "disease_id": "MONDO:0013774", "recommended_name": "trigonocephaly 2", "synonyms": [ { "id": "MONDO:0013774", "name": "FREM1 isolated trigonocephaly" }, { "id": "MONDO:0013774", "name": "isolated trigonocephaly caused by mutation in FREM1" }, { "id": "MONDO:0013774", "name": "trigonocephaly 2" }, { "id": "MONDO:0013774", "name": "trigonocephaly type 2" }, { "id": "MONDO:0013774", "name": "TRIGNO2" }, { "id": "MIM:614485", "name": "Trigonocephaly 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013774", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013777", "disease_id": "MONDO:0013777", "recommended_name": "pseudohypoaldosteronism type 2B", "synonyms": [ { "id": "MONDO:0013777", "name": "PHA2B" }, { "id": "MONDO:0013777", "name": "WNK4 pseudohypoaldosteronism type 2" }, { "id": "MONDO:0013777", "name": "pseudohypoaldosteronism type 2 caused by mutation in WNK4" }, { "id": "MONDO:0013777", "name": "pseudohypoaldosteronism, type IIB" }, { "id": "MIM:614491", "name": "Pseudohypoaldosteronism 2B" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013777", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013778", "disease_id": "MONDO:0013778", "recommended_name": "pseudohypoaldosteronism type 2C", "synonyms": [ { "id": "MONDO:0013778", "name": "PHA2C" }, { "id": "MONDO:0013778", "name": "WNK1 pseudohypoaldosteronism type 2" }, { "id": "MONDO:0013778", "name": "pseudohypoaldosteronism type 2 caused by mutation in WNK1" }, { "id": "MONDO:0013778", "name": "pseudohypoaldosteronism, type IIC" }, { "id": "MIM:614492", "name": "Pseudohypoaldosteronism 2C" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013778", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013779", "disease_id": "MONDO:0013779", "recommended_name": "Wiskott-Aldrich syndrome 2", "synonyms": [ { "id": "MONDO:0013779", "name": "WIPF1 Wiskott-Aldrich syndrome" }, { "id": "MONDO:0013779", "name": "Wiskott-Aldrich syndrome 2" }, { "id": "MONDO:0013779", "name": "Wiskott-Aldrich syndrome caused by mutation in WIPF1" }, { "id": "MONDO:0013779", "name": "Wiskott-Aldrich syndrome type 2" }, { "id": "MONDO:0013779", "name": "WAS2" }, { "id": "MIM:614493", "name": "Wiskott-Aldrich syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013779", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013781", "disease_id": "MONDO:0013781", "recommended_name": "pseudohypoaldosteronism type 2D", "synonyms": [ { "id": "MONDO:0013781", "name": "KLHL3 pseudohypoaldosteronism type 2" }, { "id": "MONDO:0013781", "name": "PHA2D" }, { "id": "MONDO:0013781", "name": "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" }, { "id": "MONDO:0013781", "name": "pseudohypoaldosteronism, type IID" }, { "id": "MIM:614495", "name": "Pseudohypoaldosteronism 2D" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013781", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013782", "disease_id": "MONDO:0013782", "recommended_name": "pseudohypoaldosteronism type 2E", "synonyms": [ { "id": "MONDO:0013782", "name": "CUL3 pseudohypoaldosteronism type 2" }, { "id": "MONDO:0013782", "name": "Cul3 pseudohypoaldosteronism type 2" }, { "id": "MONDO:0013782", "name": "PHA2E" }, { "id": "MONDO:0013782", "name": "pseudohypoaldosteronism type 2 caused by mutation in CUL3" }, { "id": "MONDO:0013782", "name": "pseudohypoaldosteronism type 2 caused by mutation in Cul3" }, { "id": "MONDO:0013782", "name": "pseudohypoaldosteronism, type IIE" }, { "id": "MIM:614496", "name": "Pseudohypoaldosteronism 2E" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013782", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013783", "disease_id": "MONDO:0013783", "recommended_name": "microphthalmia, isolated, with coloboma 7", "synonyms": [ { "id": "MONDO:0013783", "name": "ABCB6 microphthalmia, isolated, with coloboma" }, { "id": "MONDO:0013783", "name": "microphthalmia, isolated, with coloboma 7" }, { "id": "MONDO:0013783", "name": "microphthalmia, isolated, with coloboma caused by mutation in ABCB6" }, { "id": "MONDO:0013783", "name": "microphthalmia, isolated, with coloboma type 7" }, { "id": "MONDO:0013783", "name": "MCOPCB7" }, { "id": "MIM:614497", "name": "Microphthalmia/Coloboma 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013783", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013784", "disease_id": "MONDO:0013784", "recommended_name": "neonatal-onset encephalopathy with rigidity and seizures", "synonyms": [ { "id": "MONDO:0013784", "name": "lethal neonatal rigidity-multifocal seizure syndrome" }, { "id": "MONDO:0013784", "name": "lethal neonatal spasticity-epileptic encephalopathy syndrome" }, { "id": "MONDO:0013784", "name": "neonatal-onset encephalopathy with rigidity and seizures" }, { "id": "MONDO:0013784", "name": "RMFSL" }, { "id": "MONDO:0013784", "name": "rigidity and multifocal seizure syndrome, lethal neonatal" }, { "id": "MIM:614498", "name": "Rigidity and multifocal seizure syndrome, lethal neonatal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013784", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013787", "disease_id": "MONDO:0013787", "recommended_name": "psychomotor retardation, epilepsy, and craniofacial dysmorphism", "synonyms": [ { "id": "MONDO:0013787", "name": "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" }, { "id": "MONDO:0013787", "name": "psychomotor retardation, epilepsy, and craniofacial dysmorphism" }, { "id": "MONDO:0013787", "name": "PMRED" }, { "id": "MIM:614501", "name": "Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013787", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013799", "disease_id": "MONDO:0013799", "recommended_name": "obsolete efavirenz, poor metabolism of", "synonyms": [ { "id": "MONDO:0013799", "name": "efavirenz, poor metabolism of" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013799", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013806", "disease_id": "MONDO:0013806", "recommended_name": "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "synonyms": [ { "id": "MONDO:0013806", "name": "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" }, { "id": "MONDO:0013806", "name": "FCTCS" }, { "id": "MONDO:0013806", "name": "cutaneous telangiectasia and cancer syndrome, familial" }, { "id": "MIM:614564", "name": "Cutaneous telangiectasia and cancer syndrome, familial" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013806", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013817", "disease_id": "MONDO:0013817", "recommended_name": "preeclampsia/eclampsia 5", "synonyms": [ { "id": "MONDO:0013817", "name": "CORIN preeclampsia" }, { "id": "MONDO:0013817", "name": "Corin preeclampsia" }, { "id": "MONDO:0013817", "name": "Preeclampsia/eclampsia type 5" }, { "id": "MONDO:0013817", "name": "preeclampsia caused by mutation in CORIN" }, { "id": "MONDO:0013817", "name": "preeclampsia caused by mutation in Corin" }, { "id": "MONDO:0013817", "name": "preeclampsia/eclampsia 5" }, { "id": "MONDO:0013817", "name": "PEE5" }, { "id": "MIM:614595", "name": "Pre-eclampsia/eclampsia 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013817", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013843", "disease_id": "MONDO:0013843", "recommended_name": "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency", "synonyms": [ { "id": "MONDO:0013843", "name": "meconium ileus" }, { "id": "MONDO:0013843", "name": "GUCY2C meconium ileus" }, { "id": "MONDO:0013843", "name": "meconium ileus caused by mutation in GUCY2C" }, { "id": "MONDO:0013843", "name": "meconium ileus due to guanylate cyclase 2C deficiency" }, { "id": "MIM:614665", "name": "Meconium ileus" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013843", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013845", "disease_id": "MONDO:0013845", "recommended_name": "auriculocondylar syndrome 2", "synonyms": [ { "id": "MONDO:0013845", "name": "Auriculocondylar syndrome 2" }, { "id": "MONDO:0013845", "name": "Auriculocondylar syndrome type 2" }, { "id": "MONDO:0013845", "name": "PLCB4 auriculocondylar syndrome" }, { "id": "MONDO:0013845", "name": "auriculocondylar syndrome caused by mutation in PLCB4" }, { "id": "MONDO:0013845", "name": "ARCND2" }, { "id": "MIM:614669", "name": "Auriculocondylar syndrome 2A" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013845", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013851", "disease_id": "MONDO:0013851", "recommended_name": "autosomal dominant aplasia and myelodysplasia", "synonyms": [ { "id": "MONDO:0013851", "name": "autosomal dominant aplastic anaemia and myelodysplasia" }, { "id": "MONDO:0013851", "name": "autosomal dominant aplastic anemia and myelodysplasia" }, { "id": "MONDO:0013851", "name": "bone marrow failure syndrome type 1" }, { "id": "MONDO:0013851", "name": "BMFS1" }, { "id": "MONDO:0013851", "name": "bone marrow failure syndrome 1" }, { "id": "MIM:614675", "name": "Bone marrow failure syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013851", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013855", "disease_id": "MONDO:0013855", "recommended_name": "influenza, severe, susceptibility to", "synonyms": [ { "id": "MONDO:0013855", "name": "influenza, severe, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013855", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013868", "disease_id": "MONDO:0013868", "recommended_name": "porokeratosis 7, multiple types", "synonyms": [ { "id": "MONDO:0013868", "name": "POROK7" }, { "id": "MONDO:0013868", "name": "porokeratosis 7, disseminated superficial actinic type" }, { "id": "MONDO:0013868", "name": "porokeratosis 7, multiple types" }, { "id": "MIM:614714", "name": "Porokeratosis 7, multiple types" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013868", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013872", "disease_id": "MONDO:0013872", "recommended_name": "prostate cancer, hereditary, 2", "synonyms": [ { "id": "MONDO:0013872", "name": "ELAC2 familial prostate cancer" }, { "id": "MONDO:0013872", "name": "familial prostate cancer caused by mutation in ELAC2" }, { "id": "MONDO:0013872", "name": "prostate cancer, hereditary, 2" }, { "id": "MONDO:0013872", "name": "prostate cancer, hereditary, 2, susceptibility to" }, { "id": "MONDO:0013872", "name": "prostate cancer, hereditary, type 2" }, { "id": "MONDO:0013872", "name": "HPC2" }, { "id": "MIM:614731", "name": "Prostate cancer, hereditary, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013872", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013876", "disease_id": "MONDO:0013876", "recommended_name": "basal cell carcinoma, susceptibility to, 7", "synonyms": [ { "id": "MONDO:0013876", "name": "TP53 skin basal cell carcinoma" }, { "id": "MONDO:0013876", "name": "basal cell carcinoma 7" }, { "id": "MONDO:0013876", "name": "basal cell carcinoma, susceptibility to, 7" }, { "id": "MONDO:0013876", "name": "basal cell carcinoma, susceptibility to, type 7" }, { "id": "MONDO:0013876", "name": "skin basal cell carcinoma caused by mutation in TP53" }, { "id": "MONDO:0013876", "name": "BCC7" }, { "id": "MIM:614740", "name": "Basal cell carcinoma 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013876", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013878", "disease_id": "MONDO:0013878", "recommended_name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1", "synonyms": [ { "id": "MONDO:0013878", "name": "TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related" }, { "id": "MONDO:0013878", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT" }, { "id": "MONDO:0013878", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" }, { "id": "MONDO:0013878", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1" }, { "id": "MONDO:0013878", "name": "PFBMFT1" }, { "id": "MIM:614742", "name": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013878", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013880", "disease_id": "MONDO:0013880", "recommended_name": "facial paresis, hereditary congenital, 3", "synonyms": [ { "id": "MONDO:0013880", "name": "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome" }, { "id": "MONDO:0013880", "name": "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1" }, { "id": "MONDO:0013880", "name": "facial paresis, hereditary congenital, 3" }, { "id": "MONDO:0013880", "name": "facial paresis, hereditary congenital, type 3" }, { "id": "MONDO:0013880", "name": "HCFP3" }, { "id": "MIM:614744", "name": "Facial paresis, hereditary congenital, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013880", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013881", "disease_id": "MONDO:0013881", "recommended_name": "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome", "synonyms": [ { "id": "MONDO:0013881", "name": "JEB with respiratory and renal involvement" }, { "id": "MONDO:0013881", "name": "JEB-RR" }, { "id": "MONDO:0013881", "name": "congenital ILNEB syndrome" }, { "id": "MONDO:0013881", "name": "congenital NEP syndrome" }, { "id": "MONDO:0013881", "name": "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" }, { "id": "MONDO:0013881", "name": "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" }, { "id": "MONDO:0013881", "name": "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" }, { "id": "MONDO:0013881", "name": "ILNEB" }, { "id": "MONDO:0013881", "name": "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" }, { "id": "MIM:614748", "name": "Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013881", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013889", "disease_id": "MONDO:0013889", "recommended_name": "short stature-optic atrophy-Pelger-Hut anomaly syndrome", "synonyms": [ { "id": "MONDO:0013889", "name": "short stature with optic atrophy and Pelger-Hut anomaly syndrome" }, { "id": "MONDO:0013889", "name": "short stature, optic nerve atrophy, and Pelger-Huet anomaly" }, { "id": "MONDO:0013889", "name": "short stature-optic atrophy-Pelger-Hut anomaly syndrome" }, { "id": "MONDO:0013889", "name": "soph syndrome" }, { "id": "MIM:614800", "name": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013889", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013892", "disease_id": "MONDO:0013892", "recommended_name": "C3 glomerulonephritis", "synonyms": [ { "id": "MONDO:0013892", "name": "complement-mediated membranoproliferative glomerulonephritis" }, { "id": "MONDO:0013892", "name": "nephropathy due to CFHR5 deficiency" }, { "id": "MIM:614809", "name": "CFHR5 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013892", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013893", "disease_id": "MONDO:0013893", "recommended_name": "multiple sclerosis, susceptibility to, 5", "synonyms": [ { "id": "MONDO:0013893", "name": "TNFRSF1A multiple sclerosis, susceptibility to" }, { "id": "MONDO:0013893", "name": "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" }, { "id": "MONDO:0013893", "name": "multiple sclerosis, susceptibility to, 5" }, { "id": "MONDO:0013893", "name": "multiple sclerosis, susceptibility to, type 5" }, { "id": "MONDO:0013893", "name": "MS5" }, { "id": "MIM:614810", "name": "Multiple sclerosis 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013893", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013894", "disease_id": "MONDO:0013894", "recommended_name": "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "synonyms": [ { "id": "MONDO:0013894", "name": "soft syndrome" }, { "id": "MONDO:0013894", "name": "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" }, { "id": "MONDO:0013894", "name": "soft" }, { "id": "MIM:614813", "name": "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013894", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013921", "disease_id": "MONDO:0013921", "recommended_name": "herpes simplex encephalitis, susceptibility to, 4", "synonyms": [ { "id": "MONDO:0013921", "name": "Herpes simplex encephalitis, susceptibility to, type 4" }, { "id": "MONDO:0013921", "name": "TICAM1 herpes simplex encephalitis" }, { "id": "MONDO:0013921", "name": "herpes simplex encephalitis caused by mutation in TICAM1" }, { "id": "MONDO:0013921", "name": "herpes simplex encephalitis, susceptibility to, 4" }, { "id": "MONDO:0013921", "name": "IIAE6" }, { "id": "MIM:614850", "name": "Encephalopathy, acute, infection-induced, 6, herpes-specific" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013921", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013925", "disease_id": "MONDO:0013925", "recommended_name": "methylmalonic acidemia with homocystinuria, type cblJ", "synonyms": [ { "id": "MONDO:0013925", "name": "cblJ defects" }, { "id": "MONDO:0013925", "name": "cobalamin J defect" }, { "id": "MONDO:0013925", "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" }, { "id": "MONDO:0013925", "name": "methylmalonic aciduria with homocystinuria, type cblJ" }, { "id": "MONDO:0013925", "name": "MAHCJ" }, { "id": "MONDO:0013925", "name": "methylmalonic acidemia with homocystinuria type cblJ" }, { "id": "MONDO:0013925", "name": "methylmalonic aciduria and homocystinuria, cblJ type" }, { "id": "MIM:614857", "name": "Methylmalonic aciduria and homocystinuria type cblJ" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013925", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013934", "disease_id": "MONDO:0013934", "recommended_name": "combined immunodeficiency due to STK4 deficiency", "synonyms": [ { "id": "MONDO:0013934", "name": "CID due to STK4 deficiency" }, { "id": "MONDO:0013934", "name": "MST1 deficiency" }, { "id": "MONDO:0013934", "name": "STK4 deficiency" }, { "id": "MONDO:0013934", "name": "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" }, { "id": "MONDO:0013934", "name": "TIIAC" }, { "id": "MONDO:0013934", "name": "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" }, { "id": "MIM:614868", "name": "Immunodeficiency 110 with lymphoproliferation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013934", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013960", "disease_id": "MONDO:0013960", "recommended_name": "sinoatrial node dysfunction and deafness", "synonyms": [ { "id": "MONDO:0013960", "name": "sinoatrial node dysfunction and deafness" }, { "id": "MONDO:0013960", "name": "SANDD" }, { "id": "MIM:614896", "name": "Sinoatrial node dysfunction and deafness" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013960", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013992", "disease_id": "MONDO:0013992", "recommended_name": "obesity due to leptin receptor gene deficiency", "synonyms": [ { "id": "MONDO:0013992", "name": "LEPR Deficiency" }, { "id": "MONDO:0013992", "name": "obesity due to leptin receptor gene deficiency" }, { "id": "MONDO:0013992", "name": "obesity, morbid, due to leptin receptor deficiency" }, { "id": "MIM:614963", "name": "Leptin receptor deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013992", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013997", "disease_id": "MONDO:0013997", "recommended_name": "focal facial dermal dysplasia type IV", "synonyms": [ { "id": "MONDO:0013997", "name": "FFDD type IV" }, { "id": "MONDO:0013997", "name": "FFDD4" }, { "id": "MONDO:0013997", "name": "focal Facial dermal dysplasia type 4" }, { "id": "MONDO:0013997", "name": "focal facial dermal dysplasia 4" }, { "id": "MONDO:0013997", "name": "focal facial preauricular dysplasia" }, { "id": "MIM:614974", "name": "Focal facial dermal dysplasia 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013997", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0013999", "disease_id": "MONDO:0013999", "recommended_name": "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome", "synonyms": [ { "id": "MONDO:0013999", "name": "ROSAH" }, { "id": "MONDO:0013999", "name": "ROSAH syndrome" }, { "id": "MONDO:0013999", "name": "optic nerve edema-splenomegaly syndrome" }, { "id": "MONDO:0013999", "name": "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache" }, { "id": "MIM:614979", "name": "Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0013999", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014000", "disease_id": "MONDO:0014000", "recommended_name": "congenital heart defects, multiple types, 2", "synonyms": [ { "id": "MONDO:0014000", "name": "TAB2 congenital heart malformation" }, { "id": "MONDO:0014000", "name": "TAB2-related syndromic congenital heart disease" }, { "id": "MONDO:0014000", "name": "congenital heart defects, multiple types, 2" }, { "id": "MONDO:0014000", "name": "congenital heart malformation caused by mutation in TAB2" }, { "id": "MONDO:0014000", "name": "CHTD2" }, { "id": "MIM:614980", "name": "Congenital heart defects, multiple types, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014000", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014008", "disease_id": "MONDO:0014008", "recommended_name": "phosphohydroxylysinuria", "synonyms": [ { "id": "MONDO:0014008", "name": "Phosphohydroxylysinuria" }, { "id": "MONDO:0014008", "name": "phosphohydroxylysinuria" }, { "id": "MONDO:0014008", "name": "PHLU" }, { "id": "MONDO:0014008", "name": "PHOSPHOHYDROXYLYSINURIA" }, { "id": "MIM:615011", "name": "Phosphohydroxylysinuria" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014008", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014014", "disease_id": "MONDO:0014014", "recommended_name": "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive", "synonyms": [ { "id": "MONDO:0014014", "name": "EBS-AR exophilin 5" }, { "id": "MONDO:0014014", "name": "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" }, { "id": "MONDO:0014014", "name": "epidermolysis bullosa simplex due to exophilin 5 deficiency" }, { "id": "MONDO:0014014", "name": "EBNS" }, { "id": "MONDO:0014014", "name": "epidermolysis bullosa, nonspecific, autosomal recessive" }, { "id": "MIM:615028", "name": "Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014014", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014017", "disease_id": "MONDO:0014017", "recommended_name": "intellectual developmental disorder with autism and macrocephaly", "synonyms": [ { "id": "MONDO:0014017", "name": "CHD8 overgrowth syndrome" }, { "id": "MONDO:0014017", "name": "autism, susceptibility to, 18" }, { "id": "MONDO:0014017", "name": "autism, susceptibility to, type 18" }, { "id": "MONDO:0014017", "name": "AUTS18" }, { "id": "MONDO:0014017", "name": "susceptibility to autism 18" }, { "id": "MIM:615032", "name": "Intellectual developmental disorder with autism and macrocephaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014017", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014031", "disease_id": "MONDO:0014031", "recommended_name": "microcephalic primordial dwarfism, Alazami type", "synonyms": [ { "id": "MONDO:0014031", "name": "Alazami syndrome" }, { "id": "MONDO:0014031", "name": "ALAZS" }, { "id": "MIM:615071", "name": "Alazami syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014031", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014038", "disease_id": "MONDO:0014038", "recommended_name": "colorectal cancer, susceptibility to, 12", "synonyms": [ { "id": "MONDO:0014038", "name": "POLE colorectal cancer" }, { "id": "MONDO:0014038", "name": "colorectal cancer caused by mutation in POLE" }, { "id": "MONDO:0014038", "name": "colorectal cancer, susceptibility to, 12" }, { "id": "MONDO:0014038", "name": "colorectal cancer, susceptibility to, type 12" }, { "id": "MONDO:0014038", "name": "CRCS12" }, { "id": "MIM:615083", "name": "Colorectal cancer 12" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014038", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014041", "disease_id": "MONDO:0014041", "recommended_name": "autism, susceptibility to, 19", "synonyms": [ { "id": "MONDO:0014041", "name": "autism, susceptibility to, 19" }, { "id": "MONDO:0014041", "name": "autism, susceptibility to, type 19" }, { "id": "MONDO:0014041", "name": "AUTS19" }, { "id": "MIM:615091", "name": "Autism 19" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014041", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014042", "disease_id": "MONDO:0014042", "recommended_name": "left ventricular noncompaction 7", "synonyms": [ { "id": "MONDO:0014042", "name": "MIB1 left ventricular noncompaction" }, { "id": "MONDO:0014042", "name": "left ventricular noncompaction 7" }, { "id": "MONDO:0014042", "name": "left ventricular noncompaction caused by mutation in MIB1" }, { "id": "MONDO:0014042", "name": "left ventricular noncompaction type 7" }, { "id": "MONDO:0014042", "name": "LVNC7" }, { "id": "MIM:615092", "name": "Left ventricular non-compaction 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014042", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014056", "disease_id": "MONDO:0014056", "recommended_name": "melanoma, cutaneous malignant, susceptibility to, 9", "synonyms": [ { "id": "MONDO:0014056", "name": "melanoma, cutaneous malignant, 9" }, { "id": "MONDO:0014056", "name": "melanoma, cutaneous malignant, susceptibility to, 9" }, { "id": "MONDO:0014056", "name": "melanoma, cutaneous malignant, susceptibility to, type 9" }, { "id": "MONDO:0014056", "name": "CMM9" }, { "id": "MIM:615134", "name": "Melanoma, cutaneous malignant 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014056", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014058", "disease_id": "MONDO:0014058", "recommended_name": "facial dysmorphism-immunodeficiency-livedo-short stature syndrome", "synonyms": [ { "id": "MONDO:0014058", "name": "fils syndrome" }, { "id": "MONDO:0014058", "name": "facial dysmorphism, immunodeficiency, livedo, and short stature" }, { "id": "MONDO:0014058", "name": "fils" }, { "id": "MIM:615139", "name": "Facial dysmorphism, immunodeficiency, livedo, and short stature" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014058", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014059", "disease_id": "MONDO:0014059", "recommended_name": "microphthalmia, isolated, with coloboma 9", "synonyms": [ { "id": "MONDO:0014059", "name": "TENM3 microphthalmia, isolated, with coloboma" }, { "id": "MONDO:0014059", "name": "microphthalmia, isolated, with coloboma 9" }, { "id": "MONDO:0014059", "name": "microphthalmia, isolated, with coloboma caused by mutation in TENM3" }, { "id": "MONDO:0014059", "name": "microphthalmia, isolated, with coloboma type 9" }, { "id": "MONDO:0014059", "name": "microphthalmia, syndromic 15" }, { "id": "MONDO:0014059", "name": "MCOPCB9" }, { "id": "MIM:615145", "name": "Microphthalmia/Coloboma 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014059", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014060", "disease_id": "MONDO:0014060", "recommended_name": "progressive retinal dystrophy due to retinol transport defect", "synonyms": [ { "id": "MONDO:0014060", "name": "retinol dystrophy-iris coloboma-comedogenic acne syndrome" }, { "id": "MONDO:0014060", "name": "RDCCAS" }, { "id": "MONDO:0014060", "name": "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" }, { "id": "MIM:615147", "name": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014060", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014061", "disease_id": "MONDO:0014061", "recommended_name": "Steel syndrome", "synonyms": [ { "id": "MONDO:0014061", "name": "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" }, { "id": "MONDO:0014061", "name": "steel syndrome" }, { "id": "MONDO:0014061", "name": "STLS" }, { "id": "MIM:615155", "name": "Steel syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014061", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014089", "disease_id": "MONDO:0014089", "recommended_name": "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "synonyms": [ { "id": "MONDO:0014089", "name": "MSPC" }, { "id": "MONDO:0014089", "name": "palmoplantar carcinoma, multiple self-healing" }, { "id": "MONDO:0014089", "name": "palmoplantar carcinoma, multiple self-healing; MSPC" }, { "id": "MONDO:0014089", "name": "CIDED" }, { "id": "MONDO:0014089", "name": "corneal intraepithelial dyskeratosis and ectodermal dysplasia" }, { "id": "MIM:615225", "name": "Palmoplantar carcinoma, multiple self-healing" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014089", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014090", "disease_id": "MONDO:0014090", "recommended_name": "polydactyly, postaxial, type A6", "synonyms": [ { "id": "MONDO:0014090", "name": "polydactyly, postaxial, type A6" }, { "id": "MONDO:0014090", "name": "PAPA6" }, { "id": "MIM:615226", "name": "Polydactyly, postaxial A6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014090", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014109", "disease_id": "MONDO:0014109", "recommended_name": "obsolete NGLY1-deficiency", "synonyms": [], "record_url": "https://monarchinitiative.org/disease/MONDO:0014109", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014115", "disease_id": "MONDO:0014115", "recommended_name": "hypomyelination with brain stem and spinal cord involvement and leg spasticity", "synonyms": [ { "id": "MONDO:0014115", "name": "HBSL" }, { "id": "MONDO:0014115", "name": "hypomyelination with brainstem and spinal cord involvement and leg spasticity" }, { "id": "MIM:615281", "name": "Hypomyelination with brainstem and spinal cord involvement and leg spasticity" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014115", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014131", "disease_id": "MONDO:0014131", "recommended_name": "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome", "synonyms": [ { "id": "MONDO:0014131", "name": "SHAHEEN syndrome" }, { "id": "MONDO:0014131", "name": "SHNS" }, { "id": "MIM:615328", "name": "Shaheen syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014131", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014148", "disease_id": "MONDO:0014148", "recommended_name": "estrogen resistance syndrome", "synonyms": [ { "id": "MONDO:0014148", "name": "ESTRR" }, { "id": "MONDO:0014148", "name": "estrogen resistance" }, { "id": "MONDO:0014148", "name": "oestrogen insensitivity" }, { "id": "MONDO:0014148", "name": "oestrogen resistance" }, { "id": "MIM:615363", "name": "Estrogen resistance" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014148", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014157", "disease_id": "MONDO:0014157", "recommended_name": "mandibular hypoplasia-deafness-progeroid syndrome", "synonyms": [ { "id": "MONDO:0014157", "name": "MDP syndrome" }, { "id": "MONDO:0014157", "name": "mandibular hypoplasia-hearing loss-progeroid syndrome" }, { "id": "MONDO:0014157", "name": "MDPL" }, { "id": "MONDO:0014157", "name": "mandibular hypoplasia, deafness, progeroid features" }, { "id": "MONDO:0014157", "name": "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" }, { "id": "MIM:615381", "name": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014157", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014164", "disease_id": "MONDO:0014164", "recommended_name": "Meckel syndrome, type 11", "synonyms": [ { "id": "MONDO:0014164", "name": "Meckel syndrome caused by mutation in TMEM231" }, { "id": "MONDO:0014164", "name": "Meckel syndrome, type 11" }, { "id": "MONDO:0014164", "name": "TMEM231 Meckel syndrome" }, { "id": "MONDO:0014164", "name": "meckel syndrome 11" }, { "id": "MONDO:0014164", "name": "MKS11" }, { "id": "MIM:615397", "name": "Meckel syndrome 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014164", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0014195", "disease_id": "MONDO:0014195", "recommended_name": "microcornea-myopic chorioretinal atrophy", "synonyms": [ { "id": "MONDO:0014195", "name": "MMCAT syndrome" }, { "id": "MONDO:0014195", "name": "microcornea-myopic chorioretinal atrophy" }, { "id": "MONDO:0014195", "name": "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" }, { "id": "MONDO:0014195", "name": "MMCAT" }, { "id": "MONDO:0014195", "name": "microcornea, myopic chorioretinal atrophy, and telecanthus" }, { "id": "MIM:615458", "name": "Microcornea, myopic chorioretinal atrophy, and telecanthus" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014195", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014196", "disease_id": "MONDO:0014196", "recommended_name": "Hartsfield-Bixler-Demyer syndrome", "synonyms": [ { "id": "MONDO:0014196", "name": "Hartsfield-Bixler-Demyer syndrome" }, { "id": "MONDO:0014196", "name": "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" }, { "id": "MONDO:0014196", "name": "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" }, { "id": "MONDO:0014196", "name": "HARTSFIELD syndrome" }, { "id": "MONDO:0014196", "name": "HRTFDS" }, { "id": "MIM:615465", "name": "Hartsfield syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014196", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014200", "disease_id": "MONDO:0014200", "recommended_name": "aldosterone-producing adenoma with seizures and neurological abnormalities", "synonyms": [ { "id": "MONDO:0014200", "name": "APA with seizures and neurological abnormalities" }, { "id": "MONDO:0014200", "name": "Conn adenoma with seizures and neurological abnormalities" }, { "id": "MONDO:0014200", "name": "aldosterone-secreting adenoma with seizures and neurological abnormalities" }, { "id": "MONDO:0014200", "name": "complex neurodevelopmental disorder with or without aldosteronism" }, { "id": "MONDO:0014200", "name": "primary aldosteronism, seizures, and neurologic abnormalities" }, { "id": "MONDO:0014200", "name": "PASNA" }, { "id": "MIM:615474", "name": "Primary aldosteronism, seizures, and neurologic abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014200", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014206", "disease_id": "MONDO:0014206", "recommended_name": "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency", "synonyms": [ { "id": "MONDO:0014206", "name": "PAP, Reunion island type" }, { "id": "MONDO:0014206", "name": "hereditary pulmonary alveolar proteinosis with hepatic involvement" }, { "id": "MONDO:0014206", "name": "interstitial lung and liver disease" }, { "id": "MONDO:0014206", "name": "pulmonary alveolar proteinosis, Reunion island type" }, { "id": "MONDO:0014206", "name": "ILLD" }, { "id": "MONDO:0014206", "name": "infantile liver failure syndrome 2" }, { "id": "MIM:615486", "name": "Interstitial lung and liver disease" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014206", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014218", "disease_id": "MONDO:0014218", "recommended_name": "severe dermatitis-multiple allergies-metabolic wasting syndrome", "synonyms": [ { "id": "MONDO:0014218", "name": "SAM syndrome" }, { "id": "MONDO:0014218", "name": "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" }, { "id": "MONDO:0014218", "name": "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" }, { "id": "MONDO:0014218", "name": "EPKHE" }, { "id": "MONDO:0014218", "name": "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE" }, { "id": "MIM:615508", "name": "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014218", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014220", "disease_id": "MONDO:0014220", "recommended_name": "myopathy due to myoadenylate deaminase deficiency", "synonyms": [ { "id": "MONDO:0014220", "name": "myopathy due to myoadenylate deaminase deficiency" }, { "id": "MONDO:0014220", "name": "AMP deaminase 1 deficiency" }, { "id": "MONDO:0014220", "name": "AMP deaminase deficiency" }, { "id": "MONDO:0014220", "name": "AMPD1 deficiency" }, { "id": "MONDO:0014220", "name": "MMDD" }, { "id": "MONDO:0014220", "name": "adenosine monophosphate deaminase 1 deficiency" }, { "id": "MONDO:0014220", "name": "adenosine monophosphate deaminase deficiency" }, { "id": "MONDO:0014220", "name": "myoadenylate deaminase deficiency" }, { "id": "MIM:615511", "name": "Myopathy due to myoadenylate deaminase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014220", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014227", "disease_id": "MONDO:0014227", "recommended_name": "hypopigmentation-punctate palmoplantar keratoderma syndrome", "synonyms": [ { "id": "MONDO:0014227", "name": "Cole disease" }, { "id": "MONDO:0014227", "name": "guttate hypopigmentation and punctate palmoplantar keratoderma" }, { "id": "MONDO:0014227", "name": "hypopigmentation and punctate keratosis of the palms and soles" }, { "id": "MONDO:0014227", "name": "COLE disease" }, { "id": "MONDO:0014227", "name": "COLED" }, { "id": "MONDO:0014227", "name": "guttate hypopigmentation" }, { "id": "MONDO:0014227", "name": "punctate palmoplantar keratoderma with or without ectopic calcification" }, { "id": "MIM:615522", "name": "Cole disease" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014227", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014232", "disease_id": "MONDO:0014232", "recommended_name": "craniosynostosis 5, susceptibility to", "synonyms": [ { "id": "MONDO:0014232", "name": "ALX4 craniosynostosis" }, { "id": "MONDO:0014232", "name": "craniosynostosis 5, susceptibility to" }, { "id": "MONDO:0014232", "name": "craniosynostosis caused by mutation in ALX4" }, { "id": "MONDO:0014232", "name": "CRS5" }, { "id": "MIM:615529", "name": "Craniosynostosis 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014232", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014239", "disease_id": "MONDO:0014239", "recommended_name": "testicular anomalies with or without congenital heart disease", "synonyms": [ { "id": "MONDO:0014239", "name": "testicular anomalies with or without congenital heart disease" }, { "id": "MONDO:0014239", "name": "TACHD" }, { "id": "MIM:615542", "name": "Testicular anomalies with or without congenital heart disease" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014239", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014248", "disease_id": "MONDO:0014248", "recommended_name": "autism spectrum disorder - epilepsy - arthrogryposis syndrome", "synonyms": [ { "id": "MONDO:0014248", "name": "SLC35A3-CDG" }, { "id": "MONDO:0014248", "name": "arthrogryposis, impaired intellectual development, and seizures" }, { "id": "MONDO:0014248", "name": "AMRS" }, { "id": "MONDO:0014248", "name": "arthrogryposis, intellectual disability, and seizures" }, { "id": "MONDO:0014248", "name": "arthrogryposis, mental retardation, and seizures" }, { "id": "MIM:615553", "name": "Arthrogryposis, impaired intellectual development, and seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014248", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014249", "disease_id": "MONDO:0014249", "recommended_name": "multiple fibroadenoma of the breast", "synonyms": [ { "id": "MONDO:0014249", "name": "mammary polyadenomatosis" }, { "id": "MONDO:0014249", "name": "MFAB" }, { "id": "MONDO:0014249", "name": "multiple fibroadenomas of the breast" }, { "id": "MIM:615554", "name": "Multiple fibroadenomas of the breast" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014249", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014250", "disease_id": "MONDO:0014250", "recommended_name": "familial hyperprolactinemia", "synonyms": [ { "id": "MONDO:0014250", "name": "familial hyperprolactinemia" }, { "id": "MONDO:0014250", "name": "familial isolated prolactin receptor deficiency" }, { "id": "MONDO:0014250", "name": "hereditary hyperprolactinemia (disease)" }, { "id": "MONDO:0014250", "name": "HPRL" }, { "id": "MONDO:0014250", "name": "hyperprolactinemia" }, { "id": "MIM:615555", "name": "Hyperprolactinemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014250", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014251", "disease_id": "MONDO:0014251", "recommended_name": "melioidosis, susceptibility to", "synonyms": [ { "id": "MONDO:0014251", "name": "melioidosis, susceptibility to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014251", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014254", "disease_id": "MONDO:0014254", "recommended_name": "otofaciocervical syndrome 2", "synonyms": [ { "id": "MONDO:0014254", "name": "PAX1 otofaciocervical syndrome" }, { "id": "MONDO:0014254", "name": "otofaciocervical syndrome 2" }, { "id": "MONDO:0014254", "name": "otofaciocervical syndrome caused by mutation in PAX1" }, { "id": "MONDO:0014254", "name": "otofaciocervical syndrome type 2" }, { "id": "MONDO:0014254", "name": "OFC2" }, { "id": "MONDO:0014254", "name": "OTFCS2" }, { "id": "MIM:615560", "name": "Otofaciocervical syndrome 2, with T-cell deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014254", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014255", "disease_id": "MONDO:0014255", "recommended_name": "complement factor b deficiency", "synonyms": [ { "id": "MONDO:0014255", "name": "complement factor b deficiency" }, { "id": "MONDO:0014255", "name": "CFBD" }, { "id": "MIM:615561", "name": "Complement factor B deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014255", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014258", "disease_id": "MONDO:0014258", "recommended_name": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "synonyms": [ { "id": "MONDO:0014258", "name": "asparagine synthetase deficiency" }, { "id": "MONDO:0014258", "name": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" }, { "id": "MONDO:0014258", "name": "ASNSD" }, { "id": "MIM:615574", "name": "Asparagine synthetase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014258", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014263", "disease_id": "MONDO:0014263", "recommended_name": "8q24.3 microdeletion syndrome", "synonyms": [ { "id": "MONDO:0014263", "name": "Verheij syndrome" }, { "id": "MONDO:0014263", "name": "VRJS" }, { "id": "MIM:615583", "name": "Verheij syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014263", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014274", "disease_id": "MONDO:0014274", "recommended_name": "L-ferritin deficiency", "synonyms": [ { "id": "MONDO:0014274", "name": "L-ferritin deficiency" }, { "id": "MONDO:0014274", "name": "L-ferritin deficiency, dominant and recessive" }, { "id": "MONDO:0014274", "name": "LFTD" }, { "id": "MIM:615604", "name": "L-ferritin deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014274", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014292", "disease_id": "MONDO:0014292", "recommended_name": "leukoencephalopathy with mild cerebellar ataxia and white matter edema", "synonyms": [ { "id": "MONDO:0014292", "name": "LKPAT" }, { "id": "MONDO:0014292", "name": "leukoencephalopathy with ataxia" }, { "id": "MIM:615651", "name": "Leukoencephalopathy with ataxia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014292", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014306", "disease_id": "MONDO:0014306", "recommended_name": "deficiency of adenosine deaminase 2", "synonyms": [ { "id": "MONDO:0014306", "name": "ADA2 deficiency" }, { "id": "MONDO:0014306", "name": "DADA2" }, { "id": "MONDO:0014306", "name": "adenosine deaminase 2 deficiency" }, { "id": "MONDO:0014306", "name": "childhood-onset polyarteritis nodosa" }, { "id": "MONDO:0014306", "name": "deficiency of adenosine deaminase 2" }, { "id": "MONDO:0014306", "name": "polyarteritis nodosa, childhood-onset" }, { "id": "MONDO:0014306", "name": "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" }, { "id": "MONDO:0014306", "name": "PAN" }, { "id": "MIM:615688", "name": "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014306", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014309", "disease_id": "MONDO:0014309", "recommended_name": "obesity due to CEP19 deficiency", "synonyms": [ { "id": "MONDO:0014309", "name": "MOSPGF" }, { "id": "MONDO:0014309", "name": "morbid obesity and spermatogenic failure" }, { "id": "MIM:615703", "name": "Morbid obesity and spermatogenic failure" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014309", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014310", "disease_id": "MONDO:0014310", "recommended_name": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement", "synonyms": [ { "id": "MONDO:0014310", "name": "POIKTMP syndrome" }, { "id": "MONDO:0014310", "name": "POIKTMP" }, { "id": "MONDO:0014310", "name": "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis" }, { "id": "MONDO:0014310", "name": "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" }, { "id": "MIM:615704", "name": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014310", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014312", "disease_id": "MONDO:0014312", "recommended_name": "auriculocondylar syndrome 3", "synonyms": [ { "id": "MONDO:0014312", "name": "Auriculocondylar syndrome 3" }, { "id": "MONDO:0014312", "name": "Auriculocondylar syndrome type 3" }, { "id": "MONDO:0014312", "name": "ARCND3" }, { "id": "MIM:615706", "name": "Auriculocondylar syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014312", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014314", "disease_id": "MONDO:0014314", "recommended_name": "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "synonyms": [ { "id": "MONDO:0014314", "name": "SAVA" }, { "id": "MONDO:0014314", "name": "sacral agenesis with vertebral anomalies" }, { "id": "MIM:615709", "name": "Sacral agenesis with vertebral anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014314", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014317", "disease_id": "MONDO:0014317", "recommended_name": "pancytopenia-developmental delay syndrome", "synonyms": [ { "id": "MONDO:0014317", "name": "Trilineage bone marrow failure-developmental delay syndrome" }, { "id": "MONDO:0014317", "name": "bone marrow failure syndrome type 2" }, { "id": "MONDO:0014317", "name": "pancytopenia-developmental delay syndrome" }, { "id": "MONDO:0014317", "name": "BMFS2" }, { "id": "MONDO:0014317", "name": "bone marrow failure syndrome 2" }, { "id": "MIM:615715", "name": "Bone marrow failure syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014317", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014319", "disease_id": "MONDO:0014319", "recommended_name": "renal hypodysplasia/aplasia 2", "synonyms": [ { "id": "MONDO:0014319", "name": "FGF20 renal agenesis (disease)" }, { "id": "MONDO:0014319", "name": "renal agenesis (disease) caused by mutation in FGF20" }, { "id": "MONDO:0014319", "name": "renal hypodysplasia/aplasia 2" }, { "id": "MONDO:0014319", "name": "renal hypodysplasia/aplasia type 2" }, { "id": "MONDO:0014319", "name": "RHDA2" }, { "id": "MIM:615721", "name": "Renal hypodysplasia/aplasia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014319", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014324", "disease_id": "MONDO:0014324", "recommended_name": "pachyonychia congenita 3", "synonyms": [ { "id": "MONDO:0014324", "name": "KRT6A pachyonychia congenita" }, { "id": "MONDO:0014324", "name": "pachyonychia congenita 3" }, { "id": "MONDO:0014324", "name": "pachyonychia congenita caused by mutation in KRT6A" }, { "id": "MONDO:0014324", "name": "pachyonychia congenita type 3" }, { "id": "MONDO:0014324", "name": "PC3" }, { "id": "MIM:615726", "name": "Pachyonychia congenita 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014324", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014325", "disease_id": "MONDO:0014325", "recommended_name": "pachyonychia congenita 4", "synonyms": [ { "id": "MONDO:0014325", "name": "KRT6B pachyonychia congenita" }, { "id": "MONDO:0014325", "name": "pachyonychia congenita 4" }, { "id": "MONDO:0014325", "name": "pachyonychia congenita caused by mutation in KRT6B" }, { "id": "MONDO:0014325", "name": "pachyonychia congenita type 4" }, { "id": "MONDO:0014325", "name": "PC4" }, { "id": "MIM:615728", "name": "Pachyonychia congenita 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014325", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014330", "disease_id": "MONDO:0014330", "recommended_name": "obsolete eculizumab, poor response to", "synonyms": [ { "id": "MONDO:0014330", "name": "eculizumab, poor response to" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014330", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014332", "disease_id": "MONDO:0014332", "recommended_name": "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "synonyms": [ { "id": "MONDO:0014332", "name": "CA-VA deficiency" }, { "id": "MONDO:0014332", "name": "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" }, { "id": "MONDO:0014332", "name": "CA5AD" }, { "id": "MONDO:0014332", "name": "carbonic anhydrase VA deficiency" }, { "id": "MONDO:0014332", "name": "carbonic anhydrase VA deficiency, hyperammonemia due to" }, { "id": "MONDO:0014332", "name": "hyperammonemia due to carbonic anhydrase VA deficiency" }, { "id": "MONDO:0014332", "name": "mitochondrial carbonic anhydrase va deficiency" }, { "id": "MIM:615751", "name": "Hyperammonemia due to carbonic anhydrase VA deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014332", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014335", "disease_id": "MONDO:0014335", "recommended_name": "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "synonyms": [ { "id": "MONDO:0014335", "name": "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" }, { "id": "MONDO:0014335", "name": "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" }, { "id": "MONDO:0014335", "name": "MSCCA" }, { "id": "MONDO:0014335", "name": "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" }, { "id": "MIM:615760", "name": "Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014335", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014342", "disease_id": "MONDO:0014342", "recommended_name": "female infertility due to zona pellucida defect", "synonyms": [ { "id": "MONDO:0014342", "name": "OOMD" }, { "id": "MONDO:0014342", "name": "OOMD1" }, { "id": "MONDO:0014342", "name": "oocyte maturation defect" }, { "id": "MIM:615774", "name": "Oocyte/zygote/embryo maturation arrest 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014342", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014344", "disease_id": "MONDO:0014344", "recommended_name": "congenital heart defects, multiple types, 4", "synonyms": [ { "id": "MONDO:0014344", "name": "NR2F2 congenital heart defects, multiple types" }, { "id": "MONDO:0014344", "name": "congenital heart defects, multiple types caused by mutation in NR2F2" }, { "id": "MONDO:0014344", "name": "congenital heart defects, multiple types, 4" }, { "id": "MONDO:0014344", "name": "CHTD4" }, { "id": "MIM:615779", "name": "Congenital heart defects, multiple types, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014344", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014347", "disease_id": "MONDO:0014347", "recommended_name": "Rothmund-Thomson syndrome type 3", "synonyms": [ { "id": "MONDO:0014347", "name": "Rothmund-Thomson syndrome, type 3" }, { "id": "MONDO:0014347", "name": "short stature with microcephaly and distinctive facies" }, { "id": "MIM:615789", "name": "Rothmund-Thomson syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014347", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014348", "disease_id": "MONDO:0014348", "recommended_name": "intellectual disability, autosomal recessive 42", "synonyms": [ { "id": "MONDO:0014348", "name": "PGAP1 autosomal recessive non-syndromic intellectual disability" }, { "id": "MONDO:0014348", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" }, { "id": "MONDO:0014348", "name": "intellectual disability, autosomal recessive 42" }, { "id": "MONDO:0014348", "name": "intellectual disability, autosomal recessive type 42" }, { "id": "MONDO:0014348", "name": "mental retardation, autosomal recessive type 42" }, { "id": "MONDO:0014348", "name": "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" }, { "id": "MONDO:0014348", "name": "MRT42" }, { "id": "MONDO:0014348", "name": "mental retardation, autosomal recessive 42" }, { "id": "MIM:615802", "name": "Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014348", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014355", "disease_id": "MONDO:0014355", "recommended_name": "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis", "synonyms": [ { "id": "MONDO:0014355", "name": "EKC syndrome" }, { "id": "MONDO:0014355", "name": "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" }, { "id": "MONDO:0014355", "name": "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" }, { "id": "MONDO:0014355", "name": "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis" }, { "id": "MONDO:0014355", "name": "erythrokeratodermia-cardiomyopathy syndrome" }, { "id": "MONDO:0014355", "name": "DCWHKTA" }, { "id": "MIM:615821", "name": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014355", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014368", "disease_id": "MONDO:0014368", "recommended_name": "tumor predisposition syndrome 3", "synonyms": [ { "id": "MONDO:0014368", "name": "CMM10" }, { "id": "MONDO:0014368", "name": "GLM9" }, { "id": "MONDO:0014368", "name": "POT1 tumor predisposition" }, { "id": "MONDO:0014368", "name": "POT1-TPD" }, { "id": "MONDO:0014368", "name": "POT1-related tumor predisposition syndrome" }, { "id": "MONDO:0014368", "name": "glioma susceptibility 9" }, { "id": "MONDO:0014368", "name": "glioma susceptibility type 9" }, { "id": "MONDO:0014368", "name": "malignant glioma caused by mutation in POT1" }, { "id": "MONDO:0014368", "name": "melanoma, cutaneous malignant, susceptibility to, 10" }, { "id": "MONDO:0014368", "name": "melanoma, cutaneous malignant, susceptibility to, type 10" }, { "id": "MIM:615848", "name": "Tumor predisposition syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014368", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014389", "disease_id": "MONDO:0014389", "recommended_name": "polyglucosan body myopathy 1 with or without immunodeficiency", "synonyms": [ { "id": "MONDO:0014389", "name": "PGBM1" }, { "id": "MONDO:0014389", "name": "polyglucosan body myopathy 1 with or without immunodeficiency" }, { "id": "MONDO:0014389", "name": "polyglucosan body myopathy type 1" }, { "id": "MONDO:0014389", "name": "polyglucosan body myopathy, early-onset, with or without immunodeficiency" }, { "id": "MIM:615895", "name": "Polyglucosan body myopathy 1 with or without immunodeficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014389", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014402", "disease_id": "MONDO:0014402", "recommended_name": "severe neurodegenerative syndrome with lipodystrophy", "synonyms": [ { "id": "MONDO:0014402", "name": "severe neurodegenerative syndrome due to BSCL2 deficiency" }, { "id": "MONDO:0014402", "name": "PELD" }, { "id": "MONDO:0014402", "name": "encephalopathy, progressive, with or without lipodystrophy" }, { "id": "MIM:615924", "name": "Encephalopathy, progressive, with or without lipodystrophy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014402", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014403", "disease_id": "MONDO:0014403", "recommended_name": "short stature due to GHSR deficiency", "synonyms": [ { "id": "MONDO:0014403", "name": "ghrelin receptor deficiency" }, { "id": "MONDO:0014403", "name": "short stature due to growth hormone secretagogue receptor deficiency" }, { "id": "MONDO:0014403", "name": "GHDP" }, { "id": "MONDO:0014403", "name": "growth hormone deficiency, isolated partial" }, { "id": "MIM:615925", "name": "Growth hormone deficiency, isolated partial" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014403", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014404", "disease_id": "MONDO:0014404", "recommended_name": "Webb-Dattani syndrome", "synonyms": [ { "id": "MONDO:0014404", "name": "Webb-Dattani syndrome" }, { "id": "MONDO:0014404", "name": "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" }, { "id": "MONDO:0014404", "name": "WEDAS" }, { "id": "MIM:615926", "name": "Webb-Dattani syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014404", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014407", "disease_id": "MONDO:0014407", "recommended_name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "synonyms": [ { "id": "MONDO:0014407", "name": "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" }, { "id": "MONDO:0014407", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" }, { "id": "MONDO:0014407", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" }, { "id": "MONDO:0014407", "name": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" }, { "id": "MONDO:0014407", "name": "MPPH2" }, { "id": "MIM:615937", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014407", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014408", "disease_id": "MONDO:0014408", "recommended_name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3", "synonyms": [ { "id": "MONDO:0014408", "name": "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" }, { "id": "MONDO:0014408", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" }, { "id": "MONDO:0014408", "name": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" }, { "id": "MONDO:0014408", "name": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" }, { "id": "MONDO:0014408", "name": "MPPH3" }, { "id": "MIM:615938", "name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014408", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014415", "disease_id": "MONDO:0014415", "recommended_name": "kallikrein, decreased urinary activity of", "synonyms": [ { "id": "MONDO:0014415", "name": "kallikrein, decreased urinary activity of" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014415", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014419", "disease_id": "MONDO:0014419", "recommended_name": "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "synonyms": [ { "id": "MONDO:0014419", "name": "Poretti-Boltshauser syndrome" }, { "id": "MONDO:0014419", "name": "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" }, { "id": "MONDO:0014419", "name": "PORETTI-Boltshauser syndrome" }, { "id": "MONDO:0014419", "name": "PTBHS" }, { "id": "MIM:615960", "name": "Poretti-Boltshauser syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014419", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014420", "disease_id": "MONDO:0014420", "recommended_name": "short stature due to primary acid-labile subunit deficiency", "synonyms": [ { "id": "MONDO:0014420", "name": "acid-labile subunit, deficiency of" }, { "id": "MONDO:0014420", "name": "ACLSD" }, { "id": "MONDO:0014420", "name": "acid-labile SUBUNIT deficiency" }, { "id": "MIM:615961", "name": "Acid-labile subunit deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014420", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014421", "disease_id": "MONDO:0014421", "recommended_name": "glucocorticoid resistance", "synonyms": [ { "id": "MONDO:0014421", "name": "GCCR" }, { "id": "MONDO:0014421", "name": "glucocorticoid resistance, generalised" }, { "id": "MONDO:0014421", "name": "glucocorticoid resistance, generalized" }, { "id": "MIM:615962", "name": "Glucocorticoid resistance, generalized" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014421", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014424", "disease_id": "MONDO:0014424", "recommended_name": "obsolete congenital deficiency in alpha-fetoprotein", "synonyms": [ { "id": "MONDO:0014424", "name": "AFPD" }, { "id": "MONDO:0014424", "name": "ALPHA-fetoprotein deficiency" }, { "id": "MIM:615969", "name": "Alpha-fetoprotein deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014424", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014425", "disease_id": "MONDO:0014425", "recommended_name": "obsolete hereditary persistence of alpha-fetoprotein", "synonyms": [ { "id": "MONDO:0014425", "name": "hereditary persistence of alpha-fetoprotein" }, { "id": "MONDO:0014425", "name": "ALPHA-fetoprotein, hereditary persistence OF" }, { "id": "MONDO:0014425", "name": "HPAFP" }, { "id": "MIM:615970", "name": "Alpha-fetoprotein, hereditary persistence" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014425", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014448", "disease_id": "MONDO:0014448", "recommended_name": "hyperthyroxinemia, familial dysalbuminemic", "synonyms": [ { "id": "MONDO:0014448", "name": "bisalbuminemia" }, { "id": "MONDO:0014448", "name": "dysalbuminemic hyperthyroxinemia" }, { "id": "MONDO:0014448", "name": "dysalbuminemic hypertriiodothyroninemia" }, { "id": "MONDO:0014448", "name": "familial Dysalbuminemic hyperthyroidism" }, { "id": "MONDO:0014448", "name": "familial Dysalbuminemic hyperthyroxinemia" }, { "id": "MONDO:0014448", "name": "hyperthyroxinemia, familial Dysalbuminemic" }, { "id": "MONDO:0014448", "name": "hyperthyroxinemia, familial dysalbuminemic" }, { "id": "MONDO:0014448", "name": "FDAH" }, { "id": "MONDO:0014448", "name": "FDH" }, { "id": "MIM:615999", "name": "Hyperthyroxinemia, familial dysalbuminemic" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014448", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014449", "disease_id": "MONDO:0014449", "recommended_name": "congenital analbuminemia", "synonyms": [ { "id": "MONDO:0014449", "name": "ANALBA" }, { "id": "MONDO:0014449", "name": "analbuminemia" }, { "id": "MIM:616000", "name": "Analbuminemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014449", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014450", "disease_id": "MONDO:0014450", "recommended_name": "breasts and/or nipples, aplasia or hypoplasia of, 2", "synonyms": [ { "id": "MONDO:0014450", "name": "PTPRF isolated congenital breast hypoplasia/aplasia" }, { "id": "MONDO:0014450", "name": "breasts and/or nipples, aplasia or hypoplasia of, 2" }, { "id": "MONDO:0014450", "name": "breasts and/or nipples, aplasia or hypoplasia of, type 2" }, { "id": "MONDO:0014450", "name": "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" }, { "id": "MONDO:0014450", "name": "BNAH2" }, { "id": "MIM:616001", "name": "Aplasia or hypoplasia of the breasts and/or nipples 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014450", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014452", "disease_id": "MONDO:0014452", "recommended_name": "familial dysfibrinogenemia", "synonyms": [ { "id": "MONDO:0014452", "name": "dysfibrinogenemia" }, { "id": "MONDO:0014452", "name": "familial dysfibrinogenemia" }, { "id": "MONDO:0014452", "name": "hypodysfibrinogenemia" }, { "id": "MONDO:0014452", "name": "congenital dysfibrinogenemia" }, { "id": "MONDO:0014452", "name": "dysfibrinogenemia, familial" }, { "id": "MIM:616004", "name": "Dysfibrinogenemia, congenital" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014452", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014455", "disease_id": "MONDO:0014455", "recommended_name": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome", "synonyms": [ { "id": "MONDO:0014455", "name": "CAGSSS" }, { "id": "MONDO:0014455", "name": "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" }, { "id": "MIM:616007", "name": "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014455", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014460", "disease_id": "MONDO:0014460", "recommended_name": "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "synonyms": [ { "id": "MONDO:0014460", "name": "ectodermal dysplasia-short stature syndrome" }, { "id": "MONDO:0014460", "name": "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" }, { "id": "MONDO:0014460", "name": "ECTDS" }, { "id": "MONDO:0014460", "name": "ectodermal dysplasia/short stature syndrome" }, { "id": "MIM:616029", "name": "Ectodermal dysplasia/short stature syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014460", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014464", "disease_id": "MONDO:0014464", "recommended_name": "progressive encephalopathy with leukodystrophy due to DECR deficiency", "synonyms": [ { "id": "MONDO:0014464", "name": "2,4-dienoyl-CoA reductase deficiency" }, { "id": "MONDO:0014464", "name": "DECR deficiency with hyperlysinemia" }, { "id": "MONDO:0014464", "name": "progressive encephalopathy with leukodystrophy due to DECR deficiency" }, { "id": "MONDO:0014464", "name": "2,4-alpha dienoyl-CoA reductase deficiency" }, { "id": "MONDO:0014464", "name": "DECRD" }, { "id": "MONDO:0014464", "name": "dienoyl-CoA reductase deficiency" }, { "id": "MIM:616034", "name": "2,4-dienoyl-CoA reductase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014464", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014472", "disease_id": "MONDO:0014472", "recommended_name": "periodic fever-infantile enterocolitis-autoinflammatory syndrome", "synonyms": [ { "id": "MONDO:0014472", "name": "Autoinflammation with Infantile Enterocolitis" }, { "id": "MONDO:0014472", "name": "NLRC4-related MAS" }, { "id": "MONDO:0014472", "name": "NLRC4-related autoinflammatory syndrome with MAS" }, { "id": "MONDO:0014472", "name": "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" }, { "id": "MONDO:0014472", "name": "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" }, { "id": "MONDO:0014472", "name": "NLRC4-related macrophage activation syndrome" }, { "id": "MONDO:0014472", "name": "autoinflammation with infantile enterocolitis" }, { "id": "MONDO:0014472", "name": "AIFEC" }, { "id": "MONDO:0014472", "name": "AUTOINFLAMMATION with infantile enterocolitis" }, { "id": "MIM:616050", "name": "Autoinflammation with infantile enterocolitis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014472", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014479", "disease_id": "MONDO:0014479", "recommended_name": "porokeratosis 8, disseminated superficial actinic type", "synonyms": [ { "id": "MONDO:0014479", "name": "porokeratosis 8, disseminated superficial actinic type" }, { "id": "MONDO:0014479", "name": "POROK8" }, { "id": "MIM:616063", "name": "Porokeratosis 8, disseminated superficial actinic type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014479", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014483", "disease_id": "MONDO:0014483", "recommended_name": "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies", "synonyms": [ { "id": "MONDO:0014483", "name": "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" }, { "id": "MONDO:0014483", "name": "RDGCA" }, { "id": "MONDO:0014483", "name": "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" }, { "id": "MIM:616079", "name": "Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014483", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014488", "disease_id": "MONDO:0014488", "recommended_name": "diabetes mellitus, noninsulin-dependent, 5", "synonyms": [ { "id": "MONDO:0014488", "name": "TBC1D4 type 2 diabetes mellitus" }, { "id": "MONDO:0014488", "name": "diabetes mellitus, noninsulin-dependent, 5" }, { "id": "MONDO:0014488", "name": "diabetes mellitus, noninsulin-dependent, type 5" }, { "id": "MONDO:0014488", "name": "type 2 diabetes mellitus caused by mutation in TBC1D4" }, { "id": "MONDO:0014488", "name": "NIDDM5" }, { "id": "MIM:616087", "name": "Type 2 diabetes mellitus 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014488", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014490", "disease_id": "MONDO:0014490", "recommended_name": "ketoacidosis due to monocarboxylate transporter-1 deficiency", "synonyms": [ { "id": "MONDO:0014490", "name": "MCT1D" }, { "id": "MONDO:0014490", "name": "monocarboxylate transporter 1 deficiency" }, { "id": "MIM:616095", "name": "Monocarboxylate transporter 1 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014490", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014493", "disease_id": "MONDO:0014493", "recommended_name": "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency", "synonyms": [ { "id": "MONDO:0014493", "name": "ALPS due to CTLA4 haploinsufficiency" }, { "id": "MONDO:0014493", "name": "ALPS type 5" }, { "id": "MONDO:0014493", "name": "ALPS type V" }, { "id": "MONDO:0014493", "name": "CHAI" }, { "id": "MONDO:0014493", "name": "CTLA-4 haploinsufficiency with autoimmune infiltration disease" }, { "id": "MONDO:0014493", "name": "CTLA4 haploinsufficiency" }, { "id": "MONDO:0014493", "name": "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" }, { "id": "MONDO:0014493", "name": "autoimmune lymphoproliferative syndrome type 5" }, { "id": "MONDO:0014493", "name": "autoimmune lymphoproliferative syndrome type V" }, { "id": "MONDO:0014493", "name": "chai" }, { "id": "MONDO:0014493", "name": "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" }, { "id": "MONDO:0014493", "name": "ALPS5" }, { "id": "MONDO:0014493", "name": "autoimmune lymphoproliferative syndrome, type V" }, { "id": "MIM:616100", "name": "Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014493", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014495", "disease_id": "MONDO:0014495", "recommended_name": "retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome", "synonyms": [ { "id": "MONDO:0014495", "name": "retinal dystrophy-juvenile cataract-short stature syndrome" }, { "id": "MONDO:0014495", "name": "RDJCSS" }, { "id": "MONDO:0014495", "name": "retinal dystrophy, juvenile cataracts, and short stature syndrome" }, { "id": "MIM:616108", "name": "Retinal dystrophy, juvenile cataracts, and short stature syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014495", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014497", "disease_id": "MONDO:0014497", "recommended_name": "polyendocrine-polyneuropathy syndrome", "synonyms": [ { "id": "MONDO:0014497", "name": "polyendocrine-polyneuropathy syndrome" }, { "id": "MONDO:0014497", "name": "PEPNS" }, { "id": "MIM:616113", "name": "Polyendocrine-polyneuropathy syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014497", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014501", "disease_id": "MONDO:0014501", "recommended_name": "macular degeneration, early-onset", "synonyms": [ { "id": "MONDO:0014501", "name": "macular degeneration, early-onset" }, { "id": "MONDO:0014501", "name": "EOMD" }, { "id": "MIM:616118", "name": "Macular degeneration, early-onset" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014501", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014504", "disease_id": "MONDO:0014504", "recommended_name": "Perrault syndrome 5", "synonyms": [ { "id": "MONDO:0014504", "name": "Perrault syndrome 5" }, { "id": "MONDO:0014504", "name": "Perrault syndrome caused by mutation in TWNK" }, { "id": "MONDO:0014504", "name": "Perrault syndrome type 5" }, { "id": "MONDO:0014504", "name": "TWNK Perrault syndrome" }, { "id": "MONDO:0014504", "name": "PRLTS5" }, { "id": "MIM:616138", "name": "Perrault syndrome 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014504", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014514", "disease_id": "MONDO:0014514", "recommended_name": "aortic aneurysm, familial thoracic 9", "synonyms": [ { "id": "MONDO:0014514", "name": "MFAP5 familial thoracic aortic aneurysm and aortic dissection" }, { "id": "MONDO:0014514", "name": "aortic aneurysm, familial thoracic 9" }, { "id": "MONDO:0014514", "name": "aortic aneurysm, familial thoracic type 9" }, { "id": "MONDO:0014514", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5" }, { "id": "MONDO:0014514", "name": "AAT9" }, { "id": "MIM:616166", "name": "Aortic aneurysm, familial thoracic 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014514", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014515", "disease_id": "MONDO:0014515", "recommended_name": "macular dystrophy with central cone involvement", "synonyms": [ { "id": "MONDO:0014515", "name": "macular dystrophy with central cone involvement" }, { "id": "MONDO:0014515", "name": "CCMD" }, { "id": "MIM:616170", "name": "Macular dystrophy with central cone involvement" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014515", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014522", "disease_id": "MONDO:0014522", "recommended_name": "retinal dystrophy and obesity", "synonyms": [ { "id": "MONDO:0014522", "name": "retinal dystrophy and obesity" }, { "id": "MONDO:0014522", "name": "RDOB" }, { "id": "MIM:616188", "name": "Retinal dystrophy and obesity" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014522", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014523", "disease_id": "MONDO:0014523", "recommended_name": "juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome", "synonyms": [ { "id": "MONDO:0014523", "name": "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" }, { "id": "MONDO:0014523", "name": "ACPHD" }, { "id": "MONDO:0014523", "name": "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" }, { "id": "MIM:616192", "name": "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014523", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014526", "disease_id": "MONDO:0014526", "recommended_name": "polyglucosan body myopathy type 2", "synonyms": [ { "id": "MONDO:0014526", "name": "GYG1 polyglucosan body myopathy" }, { "id": "MONDO:0014526", "name": "polyglucosan body myopathy caused by mutation in GYG1" }, { "id": "MONDO:0014526", "name": "polyglucosan body myopathy type 2" }, { "id": "MONDO:0014526", "name": "PGBM2" }, { "id": "MONDO:0014526", "name": "polyglucosan body myopathy 2" }, { "id": "MIM:616199", "name": "Polyglucosan body myopathy 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014526", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014535", "disease_id": "MONDO:0014535", "recommended_name": "hyperproinsulinemia", "synonyms": [ { "id": "MONDO:0014535", "name": "hyperproinsulinemia" }, { "id": "MIM:616214", "name": "Hyperproinsulinemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014535", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014536", "disease_id": "MONDO:0014536", "recommended_name": "thrombocytopenia 5", "synonyms": [ { "id": "MONDO:0014536", "name": "ETV6 thrombocytopenia" }, { "id": "MONDO:0014536", "name": "thrombocytopenia 5" }, { "id": "MONDO:0014536", "name": "thrombocytopenia caused by mutation in ETV6" }, { "id": "MONDO:0014536", "name": "thrombocytopenia type 5" }, { "id": "MONDO:0014536", "name": "THC5" }, { "id": "MIM:616216", "name": "Thrombocytopenia 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014536", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014546", "disease_id": "MONDO:0014546", "recommended_name": "myopathy due to calsequestrin and SERCA1 protein overload", "synonyms": [ { "id": "MONDO:0014546", "name": "VMCQA" }, { "id": "MONDO:0014546", "name": "myopathy, vacuolar, with CASQ1 aggregates" }, { "id": "MIM:616231", "name": "Myopathy, vacuolar, with CASQ1 aggregates" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014546", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014551", "disease_id": "MONDO:0014551", "recommended_name": "short stature with nonspecific skeletal abnormalities 1", "synonyms": [ { "id": "MONDO:0014551", "name": "SNSK" }, { "id": "MONDO:0014551", "name": "short stature with nonspecific skeletal abnormalities 1" }, { "id": "MIM:616255", "name": "Short stature with non-specific skeletal abnormalities 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014551", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014552", "disease_id": "MONDO:0014552", "recommended_name": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "synonyms": [ { "id": "MONDO:0014552", "name": "Meckel syndrome type 12" }, { "id": "MONDO:0014552", "name": "MKS12" }, { "id": "MONDO:0014552", "name": "Meckel syndrome 12" }, { "id": "MIM:616258", "name": "Meckel syndrome 12" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014552", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0014553", "disease_id": "MONDO:0014553", "recommended_name": "Tenorio syndrome", "synonyms": [ { "id": "MONDO:0014553", "name": "Tenorio syndrome" }, { "id": "MONDO:0014553", "name": "TNORS" }, { "id": "MIM:616260", "name": "Tenorio syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014553", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014575", "disease_id": "MONDO:0014575", "recommended_name": "Singleton-Merten syndrome 2", "synonyms": [ { "id": "MONDO:0014575", "name": "DDX58 singleton-Merten dysplasia" }, { "id": "MONDO:0014575", "name": "singleton-Merten dysplasia caused by mutation in DDX58" }, { "id": "MONDO:0014575", "name": "singleton-Merten syndrome 2" }, { "id": "MONDO:0014575", "name": "singleton-Merten syndrome type 2" }, { "id": "MONDO:0014575", "name": "SGMRT2" }, { "id": "MIM:616298", "name": "Singleton-Merten syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014575", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014576", "disease_id": "MONDO:0014576", "recommended_name": "lipoyl transferase 1 deficiency", "synonyms": [ { "id": "MONDO:0014576", "name": "LIPT1D" }, { "id": "MONDO:0014576", "name": "lipoyltransferase 1 deficiency" }, { "id": "MIM:616299", "name": "Lipoyltransferase 1 deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014576", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014609", "disease_id": "MONDO:0014609", "recommended_name": "cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome", "synonyms": [ { "id": "MONDO:0014609", "name": "CHOPS syndrome" }, { "id": "MONDO:0014609", "name": "CHOPS" }, { "id": "MIM:616368", "name": "CHOPS syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014609", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014612", "disease_id": "MONDO:0014612", "recommended_name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4", "synonyms": [ { "id": "MONDO:0014612", "name": "PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related" }, { "id": "MONDO:0014612", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN" }, { "id": "MONDO:0014612", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" }, { "id": "MONDO:0014612", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4" }, { "id": "MONDO:0014612", "name": "PFBMFT4" }, { "id": "MIM:616371", "name": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014612", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014613", "disease_id": "MONDO:0014613", "recommended_name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "synonyms": [ { "id": "MONDO:0014613", "name": "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related" }, { "id": "MONDO:0014613", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1" }, { "id": "MONDO:0014613", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" }, { "id": "MONDO:0014613", "name": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3" }, { "id": "MONDO:0014613", "name": "PFBMFT3" }, { "id": "MIM:616373", "name": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014613", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014628", "disease_id": "MONDO:0014628", "recommended_name": "basal ganglia calcification, idiopathic, 6", "synonyms": [ { "id": "MONDO:0014628", "name": "XPR1 bilateral striopallidodentate calcinosis" }, { "id": "MONDO:0014628", "name": "basal ganglia calcification, idiopathic, 6" }, { "id": "MONDO:0014628", "name": "basal ganglia calcification, idiopathic, type 6" }, { "id": "MONDO:0014628", "name": "bilateral striopallidodentate calcinosis caused by mutation in XPR1" }, { "id": "MONDO:0014628", "name": "IBGC6" }, { "id": "MIM:616413", "name": "Basal ganglia calcification, idiopathic, 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014628", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014635", "disease_id": "MONDO:0014635", "recommended_name": "microphthalmia, isolated, with coloboma 10", "synonyms": [ { "id": "MONDO:0014635", "name": "RBP4 microphthalmia, isolated, with coloboma" }, { "id": "MONDO:0014635", "name": "microphthalmia, isolated, with coloboma 10" }, { "id": "MONDO:0014635", "name": "microphthalmia, isolated, with coloboma caused by mutation in RBP4" }, { "id": "MONDO:0014635", "name": "microphthalmia, isolated, with coloboma type 10" }, { "id": "MONDO:0014635", "name": "MCOPCB10" }, { "id": "MIM:616428", "name": "Microphthalmia/Coloboma 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014635", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014643", "disease_id": "MONDO:0014643", "recommended_name": "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome", "synonyms": [ { "id": "MONDO:0014643", "name": "Basel-Vanagait-Smirin-Yosef syndrome" }, { "id": "MONDO:0014643", "name": "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" }, { "id": "MONDO:0014643", "name": "BVSYS" }, { "id": "MIM:616449", "name": "Basel-Vanagaite-Smirin-Yosef syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014643", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014645", "disease_id": "MONDO:0014645", "recommended_name": "BENTA disease", "synonyms": [ { "id": "MONDO:0014645", "name": "B-cell expansion with NF-kB and T-cell anergy disease" }, { "id": "MONDO:0014645", "name": "B-cell expansion with NFKB and T-cell anergy" }, { "id": "MONDO:0014645", "name": "BENTA" }, { "id": "MIM:616452", "name": "B-cell expansion with NFKB and T-cell anergy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014645", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014646", "disease_id": "MONDO:0014646", "recommended_name": "Zimmermann-Laband syndrome 2", "synonyms": [ { "id": "MONDO:0014646", "name": "ATP6V1B2 Zimmermann-Laband syndrome" }, { "id": "MONDO:0014646", "name": "Zimmermann-Laband syndrome 2" }, { "id": "MONDO:0014646", "name": "Zimmermann-Laband syndrome caused by mutation in ATP6V1B2" }, { "id": "MONDO:0014646", "name": "Zimmermann-Laband syndrome type 2" }, { "id": "MONDO:0014646", "name": "ZLS2" }, { "id": "MIM:616455", "name": "Zimmermann-Laband syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014646", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014648", "disease_id": "MONDO:0014648", "recommended_name": "Al-Raqad syndrome", "synonyms": [ { "id": "MONDO:0014648", "name": "Al-Raqad syndrome" }, { "id": "MONDO:0014648", "name": "ARS" }, { "id": "MIM:616459", "name": "Al-Raqad syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014648", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014659", "disease_id": "MONDO:0014659", "recommended_name": "infantile liver failure syndrome 2", "synonyms": [ { "id": "MONDO:0014659", "name": "ILFS2" }, { "id": "MONDO:0014659", "name": "NBAS infantile liver failure" }, { "id": "MONDO:0014659", "name": "infantile liver failure caused by mutation in NBAS" }, { "id": "MONDO:0014659", "name": "infantile liver failure syndrome 2" }, { "id": "MONDO:0014659", "name": "infantile liver failure syndrome type 2" }, { "id": "MIM:616483", "name": "Infantile liver failure syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014659", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014661", "disease_id": "MONDO:0014661", "recommended_name": "epidermolysis bullosa simplex with nail dystrophy", "synonyms": [ { "id": "MONDO:0014661", "name": "epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive" }, { "id": "MONDO:0014661", "name": "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" }, { "id": "MONDO:0014661", "name": "epidermolysis bullosa simplex with nail dystrophy" }, { "id": "MONDO:0014661", "name": "EBSND" }, { "id": "MIM:616487", "name": "Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014661", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014663", "disease_id": "MONDO:0014663", "recommended_name": "Silver-Russell syndrome 3", "synonyms": [ { "id": "MONDO:0014663", "name": "SRS3" }, { "id": "MONDO:0014663", "name": "growth restriction, severe, with distinctive facies" }, { "id": "MONDO:0014663", "name": "GRDF" }, { "id": "MIM:616489", "name": "Silver-Russell syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014663", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014679", "disease_id": "MONDO:0014679", "recommended_name": "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis", "synonyms": [ { "id": "MONDO:0014679", "name": "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" }, { "id": "MONDO:0014679", "name": "PMGYCHA" }, { "id": "MIM:616531", "name": "Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014679", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014680", "disease_id": "MONDO:0014680", "recommended_name": "herpes simplex encephalitis, susceptibility to, 7", "synonyms": [ { "id": "MONDO:0014680", "name": "Herpes simplex encephalitis, susceptibility to, type 7" }, { "id": "MONDO:0014680", "name": "IRF3 herpes simplex encephalitis" }, { "id": "MONDO:0014680", "name": "herpes simplex encephalitis caused by mutation in IRF3" }, { "id": "MONDO:0014680", "name": "herpes simplex encephalitis, susceptibility to, 7" }, { "id": "MONDO:0014680", "name": "IIAE7" }, { "id": "MIM:616532", "name": "Encephalopathy, acute, infection-induced, 7, herpes-specific" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014680", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014681", "disease_id": "MONDO:0014681", "recommended_name": "thyroid cancer, nonmedullary, 4", "synonyms": [ { "id": "MONDO:0014681", "name": "FOXE1 thyroid cancer, nonmedullary" }, { "id": "MONDO:0014681", "name": "thyroid cancer, nonmedullary caused by mutation in FOXE1" }, { "id": "MONDO:0014681", "name": "thyroid cancer, nonmedullary, 4" }, { "id": "MONDO:0014681", "name": "thyroid cancer, nonmedullary, type 4" }, { "id": "MONDO:0014681", "name": "NMTC4" }, { "id": "MIM:616534", "name": "Thyroid cancer, non-medullary, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014681", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014682", "disease_id": "MONDO:0014682", "recommended_name": "thyroid cancer, nonmedullary, 5", "synonyms": [ { "id": "MONDO:0014682", "name": "HABP2 thyroid cancer, nonmedullary" }, { "id": "MONDO:0014682", "name": "thyroid cancer, nonmedullary caused by mutation in HABP2" }, { "id": "MONDO:0014682", "name": "thyroid cancer, nonmedullary, 5" }, { "id": "MONDO:0014682", "name": "thyroid cancer, nonmedullary, type 5" }, { "id": "MONDO:0014682", "name": "NMTC5" }, { "id": "MIM:616535", "name": "Thyroid cancer, non-medullary, 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014682", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014686", "disease_id": "MONDO:0014686", "recommended_name": "short stature, microcephaly, and endocrine dysfunction", "synonyms": [ { "id": "MONDO:0014686", "name": "short stature, microcephaly, and endocrine dysfunction" }, { "id": "MONDO:0014686", "name": "SSMED" }, { "id": "MIM:616541", "name": "Short stature, microcephaly, and endocrine dysfunction" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014686", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014698", "disease_id": "MONDO:0014698", "recommended_name": "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "synonyms": [ { "id": "MONDO:0014698", "name": "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome" }, { "id": "MONDO:0014698", "name": "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" }, { "id": "MONDO:0014698", "name": "EHLMRS" }, { "id": "MONDO:0014698", "name": "epilepsy, hearing loss, and intellectual disability syndrome" }, { "id": "MONDO:0014698", "name": "epilepsy, hearing loss, and mental retardation syndrome" }, { "id": "MIM:616577", "name": "Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014698", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014700", "disease_id": "MONDO:0014700", "recommended_name": "Au-Kline syndrome", "synonyms": [ { "id": "MONDO:0014700", "name": "AUKS" }, { "id": "MONDO:0014700", "name": "Au-Kline syndrome" }, { "id": "MONDO:0014700", "name": "Okamoto syndrome" }, { "id": "MONDO:0014700", "name": "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability" }, { "id": "MONDO:0014700", "name": "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" }, { "id": "MONDO:0014700", "name": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" }, { "id": "MONDO:0014700", "name": "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability" }, { "id": "MONDO:0014700", "name": "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" }, { "id": "MIM:616580", "name": "Au-Kline syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014700", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014703", "disease_id": "MONDO:0014703", "recommended_name": "Adams-Oliver syndrome 6", "synonyms": [ { "id": "MONDO:0014703", "name": "Adams-Oliver syndrome 6" }, { "id": "MONDO:0014703", "name": "Adams-Oliver syndrome caused by mutation in DLL4" }, { "id": "MONDO:0014703", "name": "Adams-Oliver syndrome type 6" }, { "id": "MONDO:0014703", "name": "DLL4 Adams-Oliver syndrome" }, { "id": "MONDO:0014703", "name": "AOS6" }, { "id": "MIM:616589", "name": "Adams-Oliver syndrome 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014703", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014704", "disease_id": "MONDO:0014704", "recommended_name": "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome", "synonyms": [ { "id": "MONDO:0014704", "name": "Kosaki overgrowth syndrome" }, { "id": "MONDO:0014704", "name": "KOGS" }, { "id": "MIM:616592", "name": "Kosaki overgrowth syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014704", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014713", "disease_id": "MONDO:0014713", "recommended_name": "porokeratosis 9, multiple types", "synonyms": [ { "id": "MONDO:0014713", "name": "FDPS porokeratosis (disease)" }, { "id": "MONDO:0014713", "name": "POROK9" }, { "id": "MONDO:0014713", "name": "porokeratosis (disease) caused by mutation in FDPS" }, { "id": "MONDO:0014713", "name": "porokeratosis 9, multiple types" }, { "id": "MONDO:0014713", "name": "porokeratosis 9, multiple types; POROK9" }, { "id": "MIM:616631", "name": "Porokeratosis 9, multiple types" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014713", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014714", "disease_id": "MONDO:0014714", "recommended_name": "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "synonyms": [ { "id": "MONDO:0014714", "name": "SCBMS" }, { "id": "MONDO:0014714", "name": "seizures, cortical blindness, microcephaly syndrome" }, { "id": "MIM:616632", "name": "Seizures, cortical blindness, and microcephaly syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014714", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014716", "disease_id": "MONDO:0014716", "recommended_name": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "synonyms": [ { "id": "MONDO:0014716", "name": "MINDS syndrome" }, { "id": "MONDO:0014716", "name": "Smith-Kingsmore Syndrome" }, { "id": "MONDO:0014716", "name": "Smith-Kingsmore syndrome" }, { "id": "MONDO:0014716", "name": "SKS" }, { "id": "MONDO:0014716", "name": "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" }, { "id": "MIM:616638", "name": "Smith-Kingsmore syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014716", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014731", "disease_id": "MONDO:0014731", "recommended_name": "seizures-scoliosis-macrocephaly syndrome", "synonyms": [ { "id": "MONDO:0014731", "name": "SSM syndrome" }, { "id": "MONDO:0014731", "name": "SSMS" }, { "id": "MONDO:0014731", "name": "seizures, scoliosis, and macrocephaly syndrome" }, { "id": "MIM:616682", "name": "Seizures, scoliosis, and macrocephaly/microcephaly syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014731", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014748", "disease_id": "MONDO:0014748", "recommended_name": "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome", "synonyms": [ { "id": "MONDO:0014748", "name": "SEMDFA" }, { "id": "MONDO:0014748", "name": "spondyloepimetaphyseal dysplasia, faden-Alkuraya type" }, { "id": "MONDO:0014748", "name": "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" }, { "id": "MIM:616723", "name": "Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014748", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014749", "disease_id": "MONDO:0014749", "recommended_name": "tooth agenesis, selective, 7", "synonyms": [ { "id": "MONDO:0014749", "name": "LRP6 tooth agenesis" }, { "id": "MONDO:0014749", "name": "STHAG7" }, { "id": "MONDO:0014749", "name": "tooth agenesis caused by mutation in LRP6" }, { "id": "MONDO:0014749", "name": "tooth agenesis, selective, 7" }, { "id": "MONDO:0014749", "name": "tooth agenesis, selective, 7; STHAG7" }, { "id": "MONDO:0014749", "name": "tooth agenesis, selective, type 7" }, { "id": "MIM:616724", "name": "Tooth agenesis, selective, 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014749", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014751", "disease_id": "MONDO:0014751", "recommended_name": "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome", "synonyms": [ { "id": "MONDO:0014751", "name": "palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome" }, { "id": "MONDO:0014751", "name": "CPRF" }, { "id": "MIM:616728", "name": "Cleft palate, psychomotor retardation, and distinctive facial features" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014751", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014757", "disease_id": "MONDO:0014757", "recommended_name": "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome", "synonyms": [ { "id": "MONDO:0014757", "name": "Takenouchi-Kosaki syndrome" }, { "id": "MONDO:0014757", "name": "TKS" }, { "id": "MONDO:0014757", "name": "macrothrombocytopenia and mental retardation syndrome" }, { "id": "MIM:616737", "name": "Takenouchi-Kosaki syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014757", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014758", "disease_id": "MONDO:0014758", "recommended_name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2", "synonyms": [ { "id": "MONDO:0014758", "name": "MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" }, { "id": "MONDO:0014758", "name": "RUSAT2" }, { "id": "MONDO:0014758", "name": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM" }, { "id": "MONDO:0014758", "name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" }, { "id": "MONDO:0014758", "name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2" }, { "id": "MONDO:0014758", "name": "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" }, { "id": "MIM:616738", "name": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014758", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014763", "disease_id": "MONDO:0014763", "recommended_name": "obsolete Bombay phenotype", "synonyms": [ { "id": "MONDO:0014763", "name": "Bombay phenotype" }, { "id": "MONDO:0014763", "name": "Bombay phenotype, digenic" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014763", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014764", "disease_id": "MONDO:0014764", "recommended_name": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "synonyms": [ { "id": "MONDO:0014764", "name": "SPPRS syndrome" }, { "id": "MONDO:0014764", "name": "spastic paraplegia-psychomotor retardation-seizures syndrome" }, { "id": "MONDO:0014764", "name": "SPPRS" }, { "id": "MIM:616756", "name": "Spastic paraplegia and psychomotor retardation with or without seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014764", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014766", "disease_id": "MONDO:0014766", "recommended_name": "leukodystrophy and acquired microcephaly with or without dystonia;", "synonyms": [ { "id": "MONDO:0014766", "name": "LDAMD" }, { "id": "MIM:616763", "name": "Leukodystrophy and acquired microcephaly with or without dystonia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014766", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014773", "disease_id": "MONDO:0014773", "recommended_name": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "synonyms": [ { "id": "MONDO:0014773", "name": "ASRAS" }, { "id": "MONDO:0014773", "name": "Asadollahi-Rauch syndrome" }, { "id": "MONDO:0014773", "name": "MED13L haploinsufficiency syndrome" }, { "id": "MONDO:0014773", "name": "MED13L syndrome" }, { "id": "MONDO:0014773", "name": "MED13L-related intellectual disability" }, { "id": "MONDO:0014773", "name": "MRFACD" }, { "id": "MONDO:0014773", "name": "cardiac anomalies - developmental delay - facial dysmorphism syndrome" }, { "id": "MONDO:0014773", "name": "developmental delay-facial dysmorphism syndrome due to MED13L deficiency" }, { "id": "MONDO:0014773", "name": "impaired intellectual development and distinctive facial features with or without cardiac defects" }, { "id": "MONDO:0014773", "name": "intellectual disability and distinctive facial features with or without cardiac defects" }, { "id": "MONDO:0014773", "name": "mental retardation and distinctive Facial features with or without Cardiac defects" }, { "id": "MONDO:0014773", "name": "MED13L-related syndrome" }, { "id": "MONDO:0014773", "name": "MRFACD syndrome" }, { "id": "MONDO:0014773", "name": "mental retardation and distinctive FACIAL features with or without CARDIAC defects" }, { "id": "MIM:616789", "name": "Impaired intellectual development and distinctive facial features with or without cardiac defects" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014773", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014777", "disease_id": "MONDO:0014777", "recommended_name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2", "synonyms": [ { "id": "MONDO:0014777", "name": "IHPRF2" }, { "id": "MONDO:0014777", "name": "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies" }, { "id": "MONDO:0014777", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" }, { "id": "MONDO:0014777", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2" }, { "id": "MONDO:0014777", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80" }, { "id": "MONDO:0014777", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2" }, { "id": "MIM:616801", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014777", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014778", "disease_id": "MONDO:0014778", "recommended_name": "Lamb-Shaffer syndrome", "synonyms": [ { "id": "MONDO:0014778", "name": "LAMSHF" }, { "id": "MONDO:0014778", "name": "Lamb-Shaffer syndrome" }, { "id": "MONDO:0014778", "name": "Lamb-Shaffer syndrome; LAMSHF" }, { "id": "MIM:616803", "name": "Lamb-Shaffer syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014778", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014779", "disease_id": "MONDO:0014779", "recommended_name": "Wilms tumor 6", "synonyms": [ { "id": "MONDO:0014779", "name": "WT6" }, { "id": "MONDO:0014779", "name": "Wilms tumor 6" }, { "id": "MONDO:0014779", "name": "Wilms tumor 6; WT6" }, { "id": "MONDO:0014779", "name": "Wilms tumor type 6" }, { "id": "MONDO:0014779", "name": "Wilms tumour 6; WT6" }, { "id": "MONDO:0014779", "name": "Wilms tumour type 6" }, { "id": "MONDO:0014779", "name": "Wilms tumour 6, susceptibility to" }, { "id": "MIM:616806", "name": "Wilms tumor 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014779", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014783", "disease_id": "MONDO:0014783", "recommended_name": "obsolete preimplantation embryonic lethality 1", "synonyms": [ { "id": "MONDO:0014783", "name": "preimplantation embryonic lethality" }, { "id": "MONDO:0014783", "name": "PREMBL1" }, { "id": "MONDO:0014783", "name": "TLE6 preimplantation embryonic lethality" }, { "id": "MONDO:0014783", "name": "preimplantation embryonic lethality 1" }, { "id": "MONDO:0014783", "name": "preimplantation embryonic lethality 1; PREMBL1" }, { "id": "MONDO:0014783", "name": "preimplantation embryonic lethality caused by mutation in TLE6" }, { "id": "MONDO:0014783", "name": "preimplantation embryonic lethality type 1" }, { "id": "MIM:616814", "name": "Oocyte/zygote/embryo maturation arrest 15" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014783", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014784", "disease_id": "MONDO:0014784", "recommended_name": "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome", "synonyms": [ { "id": "MONDO:0014784", "name": "IHPMR" }, { "id": "MONDO:0014784", "name": "hypotonia, infantile, with psychomotor retardation" }, { "id": "MIM:616816", "name": "Hypotonia, infantile, with psychomotor retardation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014784", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014785", "disease_id": "MONDO:0014785", "recommended_name": "microcephaly, short stature, and impaired glucose metabolism 2", "synonyms": [ { "id": "MONDO:0014785", "name": "MSSGM2" }, { "id": "MONDO:0014785", "name": "PPP1R15B microcephaly, short stature, and impaired glucose metabolism" }, { "id": "MONDO:0014785", "name": "microcephaly, short stature, and impaired glucose metabolism 2" }, { "id": "MONDO:0014785", "name": "microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2" }, { "id": "MONDO:0014785", "name": "microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B" }, { "id": "MONDO:0014785", "name": "microcephaly, short stature, and impaired glucose metabolism type 2" }, { "id": "MIM:616817", "name": "Microcephaly, short stature, and impaired glucose metabolism 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014785", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014786", "disease_id": "MONDO:0014786", "recommended_name": "IgA nephropathy, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0014786", "name": "IGAN3" }, { "id": "MONDO:0014786", "name": "IgA glomerulonephritis caused by mutation in SPRY2" }, { "id": "MONDO:0014786", "name": "IgA nephropathy, susceptibility to, 3" }, { "id": "MONDO:0014786", "name": "IgA nephropathy, susceptibility to, 3; IGAN3" }, { "id": "MONDO:0014786", "name": "IgA nephropathy, susceptibility to, type 3" }, { "id": "MONDO:0014786", "name": "SPRY2 IgA glomerulonephritis" }, { "id": "MIM:616818", "name": "IgA nephropathy 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014786", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014787", "disease_id": "MONDO:0014787", "recommended_name": "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "synonyms": [ { "id": "MONDO:0014787", "name": "CCAFCA" }, { "id": "MONDO:0014787", "name": "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia" }, { "id": "MIM:616819", "name": "Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014787", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014791", "disease_id": "MONDO:0014791", "recommended_name": "Luscan-Lumish syndrome", "synonyms": [ { "id": "MONDO:0014791", "name": "LLS" }, { "id": "MONDO:0014791", "name": "LLs" }, { "id": "MONDO:0014791", "name": "Luscan-Lumish syndrome" }, { "id": "MONDO:0014791", "name": "Luscan-Lumish syndrome; LLs" }, { "id": "MONDO:0014791", "name": "SETD2-related overgrowth syndrome" }, { "id": "MIM:616831", "name": "Luscan-Lumish syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014791", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014793", "disease_id": "MONDO:0014793", "recommended_name": "microcephaly-congenital cataract-psoriasiform dermatitis syndrome", "synonyms": [ { "id": "MONDO:0014793", "name": "MCCPD" }, { "id": "MONDO:0014793", "name": "microcephaly, congenital cataract, and psoriasiform dermatitis" }, { "id": "MONDO:0014793", "name": "smo deficiency" }, { "id": "MONDO:0014793", "name": "sterol-C4-methyl oxidase deficiency" }, { "id": "MIM:616834", "name": "Microcephaly, congenital cataract, and psoriasiform dermatitis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014793", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014795", "disease_id": "MONDO:0014795", "recommended_name": "exercise intolerance, riboflavin-responsive", "synonyms": [ { "id": "MONDO:0014795", "name": "exercise intolerance, riboflavin-responsive" }, { "id": "MONDO:0014795", "name": "RREI" }, { "id": "MIM:616839", "name": "Exercise intolerance, riboflavin-responsive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014795", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014797", "disease_id": "MONDO:0014797", "recommended_name": "lymphatic malformation 6", "synonyms": [ { "id": "MONDO:0014797", "name": "LMPH3" }, { "id": "MONDO:0014797", "name": "PIEZO1-related LRHF/GLD" }, { "id": "MONDO:0014797", "name": "PIEZO1-related generalised lymphatic dysplasia with systemic involvement" }, { "id": "MONDO:0014797", "name": "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis" }, { "id": "MONDO:0014797", "name": "PIEZO1-related generalized lymphatic dysplasia with systemic involvement" }, { "id": "MONDO:0014797", "name": "PIEZO1-related lymphatic-related hydrops fetalis" }, { "id": "MONDO:0014797", "name": "generalised lymphatic dysplasia of Fotiou" }, { "id": "MONDO:0014797", "name": "generalized lymphatic dysplasia of Fotiou" }, { "id": "MONDO:0014797", "name": "lymphedema, hereditary, III" }, { "id": "MONDO:0014797", "name": "lymphedema, hereditary, type III" }, { "id": "MIM:616843", "name": "Lymphatic malformation 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014797", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014800", "disease_id": "MONDO:0014800", "recommended_name": "progressive scapulohumeroperoneal distal myopathy", "synonyms": [ { "id": "MONDO:0014800", "name": "myopathy, scapulohumeroperoneal" }, { "id": "MONDO:0014800", "name": "SHPM" }, { "id": "MIM:616852", "name": "Myopathy, scapulohumeroperoneal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014800", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014801", "disease_id": "MONDO:0014801", "recommended_name": "even-plus syndrome", "synonyms": [ { "id": "MONDO:0014801", "name": "EVPLS" }, { "id": "MONDO:0014801", "name": "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome" }, { "id": "MONDO:0014801", "name": "even-plus syndrome" }, { "id": "MIM:616854", "name": "Even-plus syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014801", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014803", "disease_id": "MONDO:0014803", "recommended_name": "spasticity-ataxia-gait anomalies syndrome", "synonyms": [ { "id": "MONDO:0014803", "name": "SPAHGC" }, { "id": "MONDO:0014803", "name": "childhood-onset spasticity with variant non-ketotic hyperglycinemia" }, { "id": "MONDO:0014803", "name": "spasticity, childhood-onset, with hyperglycinemia" }, { "id": "MIM:616859", "name": "Spasticity, childhood-onset, with hyperglycinemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014803", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014806", "disease_id": "MONDO:0014806", "recommended_name": "spinal muscular atrophy with congenital bone fractures 1", "synonyms": [ { "id": "MONDO:0014806", "name": "SMABF1" }, { "id": "MONDO:0014806", "name": "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures" }, { "id": "MONDO:0014806", "name": "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4" }, { "id": "MONDO:0014806", "name": "spinal muscular atrophy with congenital bone fractures 1" }, { "id": "MONDO:0014806", "name": "spinal muscular atrophy with congenital bone fractures type 1" }, { "id": "MONDO:0014806", "name": "spinal muscular atrophy, type I, with congenital bone fractures" }, { "id": "MONDO:0014806", "name": "SMA1 with congenital bone fractures" }, { "id": "MONDO:0014806", "name": "spinal muscular atrophy type 1 with congenital bone fractures" }, { "id": "MIM:616866", "name": "Spinal muscular atrophy with congenital bone fractures 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014806", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014807", "disease_id": "MONDO:0014807", "recommended_name": "spinal muscular atrophy with congenital bone fractures 2", "synonyms": [ { "id": "MONDO:0014807", "name": "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures" }, { "id": "MONDO:0014807", "name": "SMABF2" }, { "id": "MONDO:0014807", "name": "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1" }, { "id": "MONDO:0014807", "name": "spinal muscular atrophy with congenital bone fractures 2" }, { "id": "MONDO:0014807", "name": "spinal muscular atrophy with congenital bone fractures type 2" }, { "id": "MIM:616867", "name": "Spinal muscular atrophy with congenital bone fractures 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014807", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014809", "disease_id": "MONDO:0014809", "recommended_name": "DDX41-related hematologic malignancy predisposition syndrome", "synonyms": [ { "id": "MONDO:0014809", "name": "DDX41 hereditary neoplastic syndrome" }, { "id": "MONDO:0014809", "name": "DDX41-related hematologic malignancy predisposition syndrome" }, { "id": "MONDO:0014809", "name": "MPLPF" }, { "id": "MONDO:0014809", "name": "hereditary neoplastic syndrome caused by mutation in DDX41" }, { "id": "MONDO:0014809", "name": "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" }, { "id": "MIM:616871", "name": "Myeloproliferative/lymphoproliferative neoplasms, familial" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014809", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014816", "disease_id": "MONDO:0014816", "recommended_name": "split-foot malformation-mesoaxial polydactyly syndrome", "synonyms": [ { "id": "MONDO:0014816", "name": "SFMMP" }, { "id": "MONDO:0014816", "name": "split-foot malformation with mesoaxial polydactyly" }, { "id": "MONDO:0014816", "name": "split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" }, { "id": "MIM:616890", "name": "Split-foot malformation with mesoaxial polydactyly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014816", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014821", "disease_id": "MONDO:0014821", "recommended_name": "complex lethal osteochondrodysplasia", "synonyms": [ { "id": "MONDO:0014821", "name": "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type" }, { "id": "MONDO:0014821", "name": "OCLSBG" }, { "id": "MIM:616897", "name": "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014821", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014831", "disease_id": "MONDO:0014831", "recommended_name": "progeroid and marfanoid aspect-lipodystrophy syndrome", "synonyms": [ { "id": "MONDO:0014831", "name": "Marfan lipodystrophy syndrome" }, { "id": "MONDO:0014831", "name": "MFLS" }, { "id": "MIM:616914", "name": "Marfanoid-progeroid-lipodystrophy syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014831", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014832", "disease_id": "MONDO:0014832", "recommended_name": "intellectual disability, autosomal recessive 53", "synonyms": [ { "id": "MONDO:0014832", "name": "GPIBD13" }, { "id": "MONDO:0014832", "name": "MRT53" }, { "id": "MONDO:0014832", "name": "PIGG-CDG" }, { "id": "MONDO:0014832", "name": "congenital disorder of glycosylation due to PIGG deficiency" }, { "id": "MONDO:0014832", "name": "early-onset epilepsy-intellectual disability-brain anomalies syndrome" }, { "id": "MONDO:0014832", "name": "glycosylphosphatidylinositol biosynthesis defect 13" }, { "id": "MONDO:0014832", "name": "intellectual developmental disorder, autosomal recessive 53" }, { "id": "MONDO:0014832", "name": "intellectual disability, autosomal recessive 53" }, { "id": "MONDO:0014832", "name": "intellectual disability, autosomal recessive type 53" }, { "id": "MONDO:0014832", "name": "mental retardation, autosomal recessive 53" }, { "id": "MONDO:0014832", "name": "mental retardation, autosomal recessive type 53" }, { "id": "MIM:616917", "name": "Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014832", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014833", "disease_id": "MONDO:0014833", "recommended_name": "heart and brain malformation syndrome", "synonyms": [ { "id": "MONDO:0014833", "name": "HBMS" }, { "id": "MONDO:0014833", "name": "heart and brain malformation syndrome" }, { "id": "MONDO:0014833", "name": "heart and brain malformation syndrome; HBMS" }, { "id": "MIM:616920", "name": "Heart and brain malformation syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014833", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014837", "disease_id": "MONDO:0014837", "recommended_name": "thrombocytopenia 6", "synonyms": [ { "id": "MONDO:0014837", "name": "hereditary thrombocytopenia with early-onset myelofibrosis" }, { "id": "MONDO:0014837", "name": "thrombocytopenia 6" }, { "id": "MONDO:0014837", "name": "thrombocytopenia type 6" }, { "id": "MONDO:0014837", "name": "THC6" }, { "id": "MIM:616937", "name": "Thrombocytopenia 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014837", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014839", "disease_id": "MONDO:0014839", "recommended_name": "chorea, childhood-onset, with psychomotor retardation", "synonyms": [ { "id": "MONDO:0014839", "name": "COCPMR" }, { "id": "MONDO:0014839", "name": "chorea, childhood-onset, with psychomotor retardation" }, { "id": "MONDO:0014839", "name": "chorea, childhood-onset, with psychomotor retardation; COCPMR" }, { "id": "MIM:616939", "name": "Chorea, childhood-onset, with psychomotor retardation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014839", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014848", "disease_id": "MONDO:0014848", "recommended_name": "TELO2-related intellectual disability-neurodevelopmental disorder", "synonyms": [ { "id": "MONDO:0014848", "name": "you-Hoover-Fong syndrome" }, { "id": "MONDO:0014848", "name": "YHFS" }, { "id": "MIM:616954", "name": "You-Hoover-Fong syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014848", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014850", "disease_id": "MONDO:0014850", "recommended_name": "retinitis pigmentosa and erythrocytic microcytosis", "synonyms": [ { "id": "MONDO:0014850", "name": "RPEM" }, { "id": "MONDO:0014850", "name": "retinitis pigmentosa and erythrocytic microcytosis" }, { "id": "MONDO:0014850", "name": "retinitis pigmentosa and erythrocytic microcytosis; RPEM" }, { "id": "MIM:616959", "name": "Retinitis pigmentosa and erythrocytic microcytosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014850", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014857", "disease_id": "MONDO:0014857", "recommended_name": "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "synonyms": [ { "id": "MONDO:0014857", "name": "NEDBEH" }, { "id": "MONDO:0014857", "name": "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" }, { "id": "MONDO:0014857", "name": "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH" }, { "id": "MONDO:0014857", "name": "rere-related neurodevelopmental syndrome" }, { "id": "MIM:616975", "name": "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014857", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014863", "disease_id": "MONDO:0014863", "recommended_name": "macrocephaly, dysmorphic facies, and psychomotor retardation", "synonyms": [ { "id": "MONDO:0014863", "name": "MDFPMR" }, { "id": "MONDO:0014863", "name": "macrocephaly, dysmorphic facies, and psychomotor retardation" }, { "id": "MONDO:0014863", "name": "macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR" }, { "id": "MIM:617011", "name": "Macrocephaly, dysmorphic facies, and psychomotor retardation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014863", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014869", "disease_id": "MONDO:0014869", "recommended_name": "hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome", "synonyms": [ { "id": "MONDO:0014869", "name": "HLASA" }, { "id": "MONDO:0014869", "name": "hydrops, lactic acidosis, and sideroblastic anaemia" }, { "id": "MONDO:0014869", "name": "hydrops, lactic acidosis, and sideroblastic anemia" }, { "id": "MIM:617021", "name": "Hydrops, lactic acidosis, and sideroblastic anemia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014869", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014873", "disease_id": "MONDO:0014873", "recommended_name": "nevus comedonicus syndrome", "synonyms": [ { "id": "MONDO:0014873", "name": "Nevus comedonicus" }, { "id": "MONDO:0014873", "name": "acne Nevus" }, { "id": "MONDO:0014873", "name": "acneiform Nevus" }, { "id": "MONDO:0014873", "name": "comedo Nevus" }, { "id": "MONDO:0014873", "name": "nevus comedonicus, somatic" }, { "id": "MONDO:0014873", "name": "pilosebaceous nevoid disorder" }, { "id": "MONDO:0014873", "name": "NC" }, { "id": "MIM:617025", "name": "Nevus comedonicus" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014873", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014877", "disease_id": "MONDO:0014877", "recommended_name": "myopathy, distal, 5", "synonyms": [ { "id": "MONDO:0014877", "name": "ADSSL1 distal myopathy" }, { "id": "MONDO:0014877", "name": "ADSSL1-related distal myopathy" }, { "id": "MONDO:0014877", "name": "MPD5" }, { "id": "MONDO:0014877", "name": "adenylosuccinate synthetase-like 1-related distal myopathy" }, { "id": "MONDO:0014877", "name": "distal myopathy caused by mutation in ADSSL1" }, { "id": "MONDO:0014877", "name": "myopathy, distal, 5; MPD5" }, { "id": "MONDO:0014877", "name": "myopathy, distal, type 5" }, { "id": "MIM:617030", "name": "Myopathy, distal, 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014877", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014878", "disease_id": "MONDO:0014878", "recommended_name": "patent ductus arteriosus 2", "synonyms": [ { "id": "MONDO:0014878", "name": "PDA2" }, { "id": "MONDO:0014878", "name": "patent ductus arteriosus 2" }, { "id": "MONDO:0014878", "name": "patent ductus arteriosus 2; PDA2" }, { "id": "MONDO:0014878", "name": "patent ductus arteriosus type 2" }, { "id": "MIM:617035", "name": "Patent ductus arteriosus 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014878", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014881", "disease_id": "MONDO:0014881", "recommended_name": "transketolase deficiency", "synonyms": [ { "id": "MONDO:0014881", "name": "TKT deficiency" }, { "id": "MONDO:0014881", "name": "short stature-developmental delay-congenital heart defect syndrome" }, { "id": "MONDO:0014881", "name": "SDDHD" }, { "id": "MIM:617044", "name": "Short stature, developmental delay, and congenital heart defects" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014881", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014885", "disease_id": "MONDO:0014885", "recommended_name": "Hermansky-Pudlak syndrome 10", "synonyms": [ { "id": "MONDO:0014885", "name": "AP3D1 Hermansky-Pudlak syndrome" }, { "id": "MONDO:0014885", "name": "HPS10" }, { "id": "MONDO:0014885", "name": "Hermansky-Pudlak syndrome 10" }, { "id": "MONDO:0014885", "name": "Hermansky-Pudlak syndrome 10; HPS10" }, { "id": "MONDO:0014885", "name": "Hermansky-Pudlak syndrome caused by mutation in AP3D1" }, { "id": "MONDO:0014885", "name": "Hermansky-Pudlak syndrome type 10" }, { "id": "MIM:617050", "name": "Hermansky-Pudlak syndrome 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014885", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014886", "disease_id": "MONDO:0014886", "recommended_name": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "synonyms": [ { "id": "MONDO:0014886", "name": "MRT55" }, { "id": "MONDO:0014886", "name": "intellectual disability, autosomal recessive 55" }, { "id": "MONDO:0014886", "name": "intellectual disability, autosomal recessive type 55" }, { "id": "MONDO:0014886", "name": "mental retardation, autosomal recessive 55" }, { "id": "MONDO:0014886", "name": "mental retardation, autosomal recessive type 55" }, { "id": "MONDO:0014886", "name": "neurodevelopmental disorder with microcephaly and gray sclerae" }, { "id": "MONDO:0014886", "name": "neurodevelopmental disorder with microcephaly and grey sclerae" }, { "id": "MIM:617051", "name": "Neurodevelopmental disorder with microcephaly and gray sclerae" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014886", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014887", "disease_id": "MONDO:0014887", "recommended_name": "bone marrow failure syndrome 3", "synonyms": [ { "id": "MONDO:0014887", "name": "BMFS3" }, { "id": "MONDO:0014887", "name": "DNAJC21 bone marrow failure syndrome" }, { "id": "MONDO:0014887", "name": "DNAJC21-related bone marrow failure syndrome" }, { "id": "MONDO:0014887", "name": "bone marrow failure syndrome 3" }, { "id": "MONDO:0014887", "name": "bone marrow failure syndrome caused by mutation in DNAJC21" }, { "id": "MONDO:0014887", "name": "bone marrow failure syndrome type 3" }, { "id": "MIM:617052", "name": "Bone marrow failure syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014887", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014888", "disease_id": "MONDO:0014888", "recommended_name": "MIRAGE syndrome", "synonyms": [ { "id": "MONDO:0014888", "name": "MIRAGE" }, { "id": "MONDO:0014888", "name": "mirage" }, { "id": "MONDO:0014888", "name": "mirage syndrome" }, { "id": "MONDO:0014888", "name": "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy" }, { "id": "MONDO:0014888", "name": "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" }, { "id": "MONDO:0014888", "name": "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" }, { "id": "MIM:617053", "name": "MIRAGE syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014888", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014889", "disease_id": "MONDO:0014889", "recommended_name": "striatonigral degeneration, childhood-onset", "synonyms": [ { "id": "MONDO:0014889", "name": "Lenk-Ploski syndrome" }, { "id": "MONDO:0014889", "name": "SNDC" }, { "id": "MONDO:0014889", "name": "childhood-onset basal ganglia degeneration syndrome" }, { "id": "MONDO:0014889", "name": "striatonigral Degeneration, childhood-onset" }, { "id": "MONDO:0014889", "name": "striatonigral degeneration, childhood-onset; SNDC" }, { "id": "MIM:617054", "name": "Striatonigral degeneration, childhood-onset" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014889", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014893", "disease_id": "MONDO:0014893", "recommended_name": "Okur-Chung neurodevelopmental syndrome", "synonyms": [ { "id": "MONDO:0014893", "name": "OCNDS" }, { "id": "MONDO:0014893", "name": "Okur-Chung neurodevelopmental syndrome" }, { "id": "MONDO:0014893", "name": "Okur-Chung neurodevelopmental syndrome; OCNDS" }, { "id": "MIM:617062", "name": "Okur-Chung neurodevelopmental syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014893", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014896", "disease_id": "MONDO:0014896", "recommended_name": "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome", "synonyms": [ { "id": "MONDO:0014896", "name": "MDCDC" }, { "id": "MONDO:0014896", "name": "congenital muscular dystrophy, Davignon-Chauveau type" }, { "id": "MONDO:0014896", "name": "muscular dystrophy, congenital, Davignon-Chauveau type" }, { "id": "MIM:617066", "name": "Muscular dystrophy, congenital, Davignon-Chauveau type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014896", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014901", "disease_id": "MONDO:0014901", "recommended_name": "tooth agenesis, selective, 8", "synonyms": [ { "id": "MONDO:0014901", "name": "STHAG8" }, { "id": "MONDO:0014901", "name": "WNT10B tooth agenesis" }, { "id": "MONDO:0014901", "name": "tooth agenesis caused by mutation in WNT10B" }, { "id": "MONDO:0014901", "name": "tooth agenesis, selective, 8" }, { "id": "MONDO:0014901", "name": "tooth agenesis, selective, 8; STHAG8" }, { "id": "MONDO:0014901", "name": "tooth agenesis, selective, type 8" }, { "id": "MIM:617073", "name": "Tooth agenesis, selective, 8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014901", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014902", "disease_id": "MONDO:0014902", "recommended_name": "nasopharyngeal carcinoma, susceptibility to, 3", "synonyms": [ { "id": "MONDO:0014902", "name": "MST1R nasopharyngeal carcinoma" }, { "id": "MONDO:0014902", "name": "NPCA3" }, { "id": "MONDO:0014902", "name": "nasopharyngeal carcinoma caused by mutation in MST1R" }, { "id": "MONDO:0014902", "name": "nasopharyngeal carcinoma, susceptibility to, 3" }, { "id": "MONDO:0014902", "name": "nasopharyngeal carcinoma, susceptibility to, 3; NPCA3" }, { "id": "MONDO:0014902", "name": "nasopharyngeal carcinoma, susceptibility to, type 3" }, { "id": "MIM:617075", "name": "Nasopharyngeal carcinoma, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014902", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014907", "disease_id": "MONDO:0014907", "recommended_name": "short-rib thoracic dysplasia 15 with polydactyly", "synonyms": [ { "id": "MONDO:0014907", "name": "SRTD15" }, { "id": "MONDO:0014907", "name": "short-rib thoracic dysplasia 15 with polydactyly" }, { "id": "MONDO:0014907", "name": "short-rib thoracic dysplasia 15 with polydactyly; SRTD15" }, { "id": "MIM:617088", "name": "Short-rib thoracic dysplasia 15 with polydactyly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014907", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014911", "disease_id": "MONDO:0014911", "recommended_name": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "synonyms": [ { "id": "MONDO:0014911", "name": "GRIDHH" }, { "id": "MONDO:0014911", "name": "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" }, { "id": "MONDO:0014911", "name": "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" }, { "id": "MONDO:0014911", "name": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH" }, { "id": "MIM:617093", "name": "Growth retardation, impaired intellectual development, hypotonia, and hepatopathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014911", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014914", "disease_id": "MONDO:0014914", "recommended_name": "Dias-Logan syndrome", "synonyms": [ { "id": "MONDO:0014914", "name": "BCL11A-related BAFopathy" }, { "id": "MONDO:0014914", "name": "DILOS" }, { "id": "MONDO:0014914", "name": "Dias-Logan syndrome" }, { "id": "MONDO:0014914", "name": "Dias-Logan syndrome; DILOS" }, { "id": "MONDO:0014914", "name": "BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin" }, { "id": "MONDO:0014914", "name": "BCL11A-related intellectual developmental disorder with persistence of foetal haemoglobin" }, { "id": "MONDO:0014914", "name": "intellectual developmental disorder with hereditary persistence of foetal Haemoglobin" }, { "id": "MONDO:0014914", "name": "intellectual developmental disorder with persistence of foetal HEMOGLOBIN" }, { "id": "MONDO:0014914", "name": "intellectual developmental disorder with persistence of foetal Haemoglobin" }, { "id": "MIM:617101", "name": "Intellectual developmental disorder with persistence of fetal hemoglobin" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014914", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014915", "disease_id": "MONDO:0014915", "recommended_name": "short-rib thoracic dysplasia 16 with or without polydactyly", "synonyms": [ { "id": "MONDO:0014915", "name": "SRTD16" }, { "id": "MONDO:0014915", "name": "short-rib thoracic dysplasia 16 with or without polydactyly" }, { "id": "MONDO:0014915", "name": "short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16" }, { "id": "MIM:617102", "name": "Short-rib thoracic dysplasia 16 with or without polydactyly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014915", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014918", "disease_id": "MONDO:0014918", "recommended_name": "tall stature-intellectual disability-renal anomalies syndrome", "synonyms": [ { "id": "MONDO:0014918", "name": "TROFAS" }, { "id": "MONDO:0014918", "name": "Thauvin-robinet-Faivre syndrome" }, { "id": "MIM:617107", "name": "Thauvin-Robinet-Faivre syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014918", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014919", "disease_id": "MONDO:0014919", "recommended_name": "sessile serrated polyposis cancer syndrome", "synonyms": [ { "id": "MONDO:0014919", "name": "SSPCS" }, { "id": "MONDO:0014919", "name": "sessile serrated polyposis cancer syndrome" }, { "id": "MONDO:0014919", "name": "sessile serrated polyposis cancer syndrome; SSPCS" }, { "id": "MIM:617108", "name": "Sessile serrated polyposis cancer syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014919", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014931", "disease_id": "MONDO:0014931", "recommended_name": "Alazami-Yuan syndrome", "synonyms": [ { "id": "MONDO:0014931", "name": "ALYUS" }, { "id": "MONDO:0014931", "name": "Alazami-Yuan syndrome" }, { "id": "MONDO:0014931", "name": "Alazami-Yuan syndrome; ALYUS" }, { "id": "MIM:617126", "name": "Alazami-Yuan syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014931", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014932", "disease_id": "MONDO:0014932", "recommended_name": "orofaciodigital syndrome XV", "synonyms": [ { "id": "MONDO:0014932", "name": "OFD15" }, { "id": "MONDO:0014932", "name": "orofaciodigital syndrome XV" }, { "id": "MONDO:0014932", "name": "orofaciodigital syndrome type XV" }, { "id": "MIM:617127", "name": "Orofaciodigital syndrome 15" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014932", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014937", "disease_id": "MONDO:0014937", "recommended_name": "aniridia 2", "synonyms": [ { "id": "MONDO:0014937", "name": "AN2" }, { "id": "MONDO:0014937", "name": "aniridia 2" }, { "id": "MONDO:0014937", "name": "aniridia type 2" }, { "id": "MIM:617141", "name": "Aniridia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014937", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014938", "disease_id": "MONDO:0014938", "recommended_name": "aniridia 3", "synonyms": [ { "id": "MONDO:0014938", "name": "AN3" }, { "id": "MONDO:0014938", "name": "TRIM44 isolated aniridia" }, { "id": "MONDO:0014938", "name": "aniridia 3" }, { "id": "MONDO:0014938", "name": "aniridia 3; AN3" }, { "id": "MONDO:0014938", "name": "aniridia type 3" }, { "id": "MONDO:0014938", "name": "isolated aniridia caused by mutation in TRIM44" }, { "id": "MIM:617142", "name": "Aniridia 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014938", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014941", "disease_id": "MONDO:0014941", "recommended_name": "arthrogryposis, distal, with impaired proprioception and touch", "synonyms": [ { "id": "MONDO:0014941", "name": "DAIPT" }, { "id": "MONDO:0014941", "name": "arthrogryposis, distal, with impaired proprioception and touch" }, { "id": "MONDO:0014941", "name": "arthrogryposis, distal, with impaired proprioception and touch; DAIPT" }, { "id": "MIM:617146", "name": "Arthrogryposis, distal, with impaired proprioception and touch" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014941", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014944", "disease_id": "MONDO:0014944", "recommended_name": "short stature-brachydactyly-obesity-global developmental delay syndrome", "synonyms": [ { "id": "MONDO:0014944", "name": "SBIDDS" }, { "id": "MONDO:0014944", "name": "short stature, brachydactyly, intellectual developmental disability, and seizures" }, { "id": "MIM:617157", "name": "Short stature, brachydactyly, impaired intellectual developmental, and seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014944", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014948", "disease_id": "MONDO:0014948", "recommended_name": "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay", "synonyms": [ { "id": "MONDO:0014948", "name": "SRMMD" }, { "id": "MONDO:0014948", "name": "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" }, { "id": "MONDO:0014948", "name": "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD" }, { "id": "MIM:617164", "name": "Short stature-micrognathia syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014948", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014950", "disease_id": "MONDO:0014950", "recommended_name": "aortic aneurysm, familial thoracic 10", "synonyms": [ { "id": "MONDO:0014950", "name": "AAT10" }, { "id": "MONDO:0014950", "name": "LOX familial thoracic aortic aneurysm and aortic dissection" }, { "id": "MONDO:0014950", "name": "aortic aneurysm, familial thoracic 10" }, { "id": "MONDO:0014950", "name": "aortic aneurysm, familial thoracic type 10" }, { "id": "MONDO:0014950", "name": "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX" }, { "id": "MIM:617168", "name": "Aortic aneurysm, familial thoracic 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014950", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014952", "disease_id": "MONDO:0014952", "recommended_name": "intellectual disability-epilepsy-extrapyramidal syndrome", "synonyms": [ { "id": "MONDO:0014952", "name": "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" }, { "id": "MONDO:0014952", "name": "DYSEIDD" }, { "id": "MIM:617171", "name": "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014952", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014955", "disease_id": "MONDO:0014955", "recommended_name": "RCBTB1-related retinopathy", "synonyms": [ { "id": "MONDO:0014955", "name": "RCBTB1-related retinopathy" }, { "id": "MONDO:0014955", "name": "RDEOA" }, { "id": "MONDO:0014955", "name": "retinal dystrophy with or without extraocular anomalies" }, { "id": "MIM:617175", "name": "Retinal dystrophy with or without extraocular anomalies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014955", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014956", "disease_id": "MONDO:0014956", "recommended_name": "Chitayat syndrome", "synonyms": [ { "id": "MONDO:0014956", "name": "CHYTS" }, { "id": "MONDO:0014956", "name": "Chitayat syndrome" }, { "id": "MONDO:0014956", "name": "Chitayat syndrome; CHYTS" }, { "id": "MIM:617180", "name": "Chitayat syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014956", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014957", "disease_id": "MONDO:0014957", "recommended_name": "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia", "synonyms": [ { "id": "MONDO:0014957", "name": "LADCI" }, { "id": "MONDO:0014957", "name": "language delay and ADHD/cognitive impairment with or without cardiac arrhythmia" }, { "id": "MONDO:0014957", "name": "language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia" }, { "id": "MONDO:0014957", "name": "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI" }, { "id": "MIM:617182", "name": "Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014957", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014963", "disease_id": "MONDO:0014963", "recommended_name": "Shashi-Pena syndrome", "synonyms": [ { "id": "MONDO:0014963", "name": "SHAPNS" }, { "id": "MONDO:0014963", "name": "Shashi-Pena syndrome" }, { "id": "MONDO:0014963", "name": "Shashi-Pena syndrome; SHAPNS" }, { "id": "MIM:617190", "name": "Shashi-Pena syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014963", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014968", "disease_id": "MONDO:0014968", "recommended_name": "encephalopathy, progressive, with amyotrophy and optic atrophy", "synonyms": [ { "id": "MONDO:0014968", "name": "PEAMO" }, { "id": "MONDO:0014968", "name": "encephalopathy, progressive, with amyotrophy and optic atrophy" }, { "id": "MONDO:0014968", "name": "encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO" }, { "id": "MIM:617207", "name": "Encephalopathy, progressive, with amyotrophy and optic atrophy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014968", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014969", "disease_id": "MONDO:0014969", "recommended_name": "isolated sedoheptulokinase deficiency", "synonyms": [ { "id": "MONDO:0014969", "name": "SHPKD" }, { "id": "MONDO:0014969", "name": "isolated SHPK deficiency" }, { "id": "MONDO:0014969", "name": "sedoheptulokinase deficiency" }, { "id": "MIM:617213", "name": "Sedoheptulokinase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014969", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014973", "disease_id": "MONDO:0014973", "recommended_name": "sudden cardiac failure, infantile", "synonyms": [ { "id": "MONDO:0014973", "name": "PPA2 deficiency" }, { "id": "MONDO:0014973", "name": "PPA2-associated sudden cardiac death" }, { "id": "MONDO:0014973", "name": "SCFI" }, { "id": "MONDO:0014973", "name": "infantile sudden cardiac failure" }, { "id": "MONDO:0014973", "name": "sudden Cardiac failure, infantile" }, { "id": "MONDO:0014973", "name": "sudden cardiac failure, infantile; SCFI" }, { "id": "MIM:617222", "name": "Sudden cardiac failure, infantile" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014973", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014974", "disease_id": "MONDO:0014974", "recommended_name": "sudden cardiac failure, alcohol-induced", "synonyms": [ { "id": "MONDO:0014974", "name": "SCFAI" }, { "id": "MONDO:0014974", "name": "sudden Cardiac failure, alcohol-induced" }, { "id": "MONDO:0014974", "name": "sudden cardiac failure, alcohol-induced; SCFAI" }, { "id": "MIM:617223", "name": "Sudden cardiac failure, alcohol-induced" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014974", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014979", "disease_id": "MONDO:0014979", "recommended_name": "myoclonus, intractable, neonatal", "synonyms": [ { "id": "MONDO:0014979", "name": "NEIMY" }, { "id": "MONDO:0014979", "name": "myoclonus, intractable, neonatal" }, { "id": "MONDO:0014979", "name": "myoclonus, intractable, neonatal; NEIMY" }, { "id": "MIM:617235", "name": "Myoclonus, intractable, neonatal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014979", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014982", "disease_id": "MONDO:0014982", "recommended_name": "myopia 25, autosomal dominant", "synonyms": [ { "id": "MONDO:0014982", "name": "MYP25" }, { "id": "MONDO:0014982", "name": "P4HA2 myopia (disease)" }, { "id": "MONDO:0014982", "name": "myopia (disease) caused by mutation in P4HA2" }, { "id": "MONDO:0014982", "name": "myopia 25, autosomal dominant" }, { "id": "MONDO:0014982", "name": "myopia 25, autosomal dominant; MYP25" }, { "id": "MIM:617238", "name": "Myopia 25, autosomal dominant" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014982", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014984", "disease_id": "MONDO:0014984", "recommended_name": "lung disease, immunodeficiency, and chromosome breakage syndrome;", "synonyms": [ { "id": "MONDO:0014984", "name": "LICS" }, { "id": "MIM:617241", "name": "Lung disease, immunodeficiency, and chromosome breakage syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014984", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014989", "disease_id": "MONDO:0014989", "recommended_name": "uncombable hair syndrome 2", "synonyms": [ { "id": "MONDO:0014989", "name": "TGM3 uncombable hair syndrome" }, { "id": "MONDO:0014989", "name": "UHS2" }, { "id": "MONDO:0014989", "name": "uncombable hair syndrome 2" }, { "id": "MONDO:0014989", "name": "uncombable hair syndrome 2; UHS2" }, { "id": "MONDO:0014989", "name": "uncombable hair syndrome caused by mutation in TGM3" }, { "id": "MONDO:0014989", "name": "uncombable hair syndrome type 2" }, { "id": "MIM:617251", "name": "Uncombable hair syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014989", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014990", "disease_id": "MONDO:0014990", "recommended_name": "uncombable hair syndrome 3", "synonyms": [ { "id": "MONDO:0014990", "name": "TCHH uncombable hair syndrome" }, { "id": "MONDO:0014990", "name": "UHS3" }, { "id": "MONDO:0014990", "name": "uncombable hair syndrome 3" }, { "id": "MONDO:0014990", "name": "uncombable hair syndrome 3; UHS3" }, { "id": "MONDO:0014990", "name": "uncombable hair syndrome caused by mutation in TCHH" }, { "id": "MONDO:0014990", "name": "uncombable hair syndrome type 3" }, { "id": "MIM:617252", "name": "Uncombable hair syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014990", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014994", "disease_id": "MONDO:0014994", "recommended_name": "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies", "synonyms": [ { "id": "MONDO:0014994", "name": "GDACCF" }, { "id": "MONDO:0014994", "name": "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" }, { "id": "MONDO:0014994", "name": "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" }, { "id": "MIM:617260", "name": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014994", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014995", "disease_id": "MONDO:0014995", "recommended_name": "neurodevelopmental disorder with hypotonia, seizures, and absent language", "synonyms": [ { "id": "MONDO:0014995", "name": "NDHSAL" }, { "id": "MONDO:0014995", "name": "neurodevelopmental disorder with hypotonia, seizures, and absent language" }, { "id": "MONDO:0014995", "name": "neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL" }, { "id": "MIM:617268", "name": "Neurodevelopmental disorder with hypotonia, seizures, and absent language" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014995", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014998", "disease_id": "MONDO:0014998", "recommended_name": "glaucoma 3, primary congenital, E", "synonyms": [ { "id": "MONDO:0014998", "name": "GLC3E" }, { "id": "MONDO:0014998", "name": "glaucoma 3, primary congenital, E" }, { "id": "MONDO:0014998", "name": "glaucoma 3, primary congenital, E; GLC3E" }, { "id": "MONDO:0014998", "name": "glaucoma 3, primary congenital, type E" }, { "id": "MIM:617272", "name": "Glaucoma 3, primary congenital, E" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014998", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0014999", "disease_id": "MONDO:0014999", "recommended_name": "tooth agenesis, selective, 9", "synonyms": [ { "id": "MONDO:0014999", "name": "GREM2 tooth agenesis" }, { "id": "MONDO:0014999", "name": "STHAG9" }, { "id": "MONDO:0014999", "name": "tooth agenesis caused by mutation in GREM2" }, { "id": "MONDO:0014999", "name": "tooth agenesis, selective, 9" }, { "id": "MONDO:0014999", "name": "tooth agenesis, selective, 9; STHAG9" }, { "id": "MONDO:0014999", "name": "tooth agenesis, selective, type 9" }, { "id": "MIM:617275", "name": "Tooth agenesis, selective, 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0014999", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015001", "disease_id": "MONDO:0015001", "recommended_name": "atrial fibrillation, familial, 18", "synonyms": [ { "id": "MONDO:0015001", "name": "ATFB18" }, { "id": "MONDO:0015001", "name": "MYL4 familial atrial fibrillation" }, { "id": "MONDO:0015001", "name": "atrial fibrillation, familial, 18" }, { "id": "MONDO:0015001", "name": "atrial fibrillation, familial, 18; ATFB18" }, { "id": "MONDO:0015001", "name": "atrial fibrillation, familial, type 18" }, { "id": "MONDO:0015001", "name": "familial atrial fibrillation caused by mutation in MYL4" }, { "id": "MIM:617280", "name": "Atrial fibrillation, familial, 18" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015001", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015006", "disease_id": "MONDO:0015006", "recommended_name": "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss", "synonyms": [ { "id": "MONDO:0015006", "name": "EBSSH" }, { "id": "MONDO:0015006", "name": "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" }, { "id": "MONDO:0015006", "name": "epidermolysis bullosa simplex, generalized, with scarring and hair loss" }, { "id": "MONDO:0015006", "name": "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" }, { "id": "MONDO:0015006", "name": "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" }, { "id": "MONDO:0015006", "name": "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" }, { "id": "MIM:617294", "name": "Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015006", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015007", "disease_id": "MONDO:0015007", "recommended_name": "spastic paraplegia, intellectual disability, nystagmus, and obesity", "synonyms": [ { "id": "MONDO:0015007", "name": "spastic paraplegia, intellectual disability, nystagmus, and obesity" }, { "id": "MONDO:0015007", "name": "SINO" }, { "id": "MIM:617296", "name": "Spastic paraplegia, intellectual disability, nystagmus, and obesity" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015007", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015010", "disease_id": "MONDO:0015010", "recommended_name": "atypical glycine encephalopathy", "synonyms": [ { "id": "MONDO:0015010", "name": "atypical NKA" }, { "id": "MONDO:0015010", "name": "atypical non-ketotic hyperglycinemia" }, { "id": "MIM:617301", "name": "Glycine encephalopathy with normal serum glycine" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015010", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015012", "disease_id": "MONDO:0015012", "recommended_name": "mucopolysaccharidosis-plus syndrome", "synonyms": [ { "id": "MONDO:0015012", "name": "MPSPS" }, { "id": "MONDO:0015012", "name": "mucopolysaccharidosis-like plus disease" }, { "id": "MONDO:0015012", "name": "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" }, { "id": "MONDO:0015012", "name": "mucopolysaccharidosis-plus syndrome" }, { "id": "MIM:617303", "name": "Mucopolysaccharidosis-plus syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015012", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015014", "disease_id": "MONDO:0015014", "recommended_name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "synonyms": [ { "id": "MONDO:0015014", "name": "COMMAD" }, { "id": "MONDO:0015014", "name": "COMMAD syndrome" }, { "id": "MONDO:0015014", "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" }, { "id": "MONDO:0015014", "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD" }, { "id": "MIM:617306", "name": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015014", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015018", "disease_id": "MONDO:0015018", "recommended_name": "ichthyosis, congenital, autosomal recessive 12", "synonyms": [ { "id": "MONDO:0015018", "name": "ARCI12" }, { "id": "MONDO:0015018", "name": "ichthyosis, congenital, autosomal recessive 12" }, { "id": "MONDO:0015018", "name": "ichthyosis, congenital, autosomal recessive 12; ARCI12" }, { "id": "MONDO:0015018", "name": "ichthyosis, congenital, autosomal recessive type 12" }, { "id": "MIM:617320", "name": "Ichthyosis, congenital, autosomal recessive 12" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015018", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015019", "disease_id": "MONDO:0015019", "recommended_name": "Yao syndrome", "synonyms": [ { "id": "MONDO:0015019", "name": "YAOS" }, { "id": "MONDO:0015019", "name": "Yao syndrome" }, { "id": "MIM:617321", "name": "Yao syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015019", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015022", "disease_id": "MONDO:0015022", "recommended_name": "intellectual developmental disorder with dysmorphic facies and ptosis", "synonyms": [ { "id": "MONDO:0015022", "name": "IDDDFP" }, { "id": "MONDO:0015022", "name": "intellectual developmental disorder with dysmorphic facies and ptosis" }, { "id": "MONDO:0015022", "name": "intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP" }, { "id": "MIM:617333", "name": "Intellectual developmental disorder with dysmorphic facies and ptosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015022", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015026", "disease_id": "MONDO:0015026", "recommended_name": "cerebroretinal microangiopathy with calcifications and cysts 2", "synonyms": [ { "id": "MONDO:0015026", "name": "Coats plus syndrome caused by mutation in STN1" }, { "id": "MONDO:0015026", "name": "STN1 Coats plus syndrome" }, { "id": "MONDO:0015026", "name": "cerebroretinal microangiopathy with calcifications and cysts 2" }, { "id": "MONDO:0015026", "name": "cerebroretinal microangiopathy with calcifications and cysts type 2" }, { "id": "MONDO:0015026", "name": "CRMCC2" }, { "id": "MIM:617341", "name": "Cerebroretinal microangiopathy with calcifications and cysts 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015026", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0015270", "disease_id": "MONDO:0015270", "recommended_name": "butyrylcholinesterase deficiency", "synonyms": [ { "id": "MONDO:0015270", "name": "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" }, { "id": "MONDO:0015270", "name": "butyrylcholinesterase deficiency" }, { "id": "MONDO:0015270", "name": "BCHED" }, { "id": "MONDO:0015270", "name": "Suxamethonium sensitivity" }, { "id": "MONDO:0015270", "name": "apnea, postanesthetic" }, { "id": "MONDO:0015270", "name": "cholinesterase 2 deficiency" }, { "id": "MONDO:0015270", "name": "pseudocholinesterase E1" }, { "id": "MONDO:0015270", "name": "pseudocholinesterase deficiency" }, { "id": "MONDO:0015270", "name": "succinylcholine sensitivity" }, { "id": "MIM:617936", "name": "Butyrylcholinesterase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0015270", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0016368", "disease_id": "MONDO:0016368", "recommended_name": "Rothmund-Thomson syndrome type 1", "synonyms": [ { "id": "MONDO:0016368", "name": "RTS1" }, { "id": "MONDO:0016368", "name": "Rothmund-Thomson syndrome, type 1" }, { "id": "MONDO:0016368", "name": "poikiloderma of Rothmund-Thomson type 1" }, { "id": "MIM:618625", "name": "Rothmund-Thomson syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0016368", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0016825", "disease_id": "MONDO:0016825", "recommended_name": "mitochondrial myopathy-lactic acidosis-deafness syndrome", "synonyms": [ { "id": "MONDO:0016825", "name": "mitochondrial myopathy with lactic acidosis" }, { "id": "MONDO:0016825", "name": "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" }, { "id": "MONDO:0016825", "name": "MMLA" }, { "id": "MONDO:0016825", "name": "metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" }, { "id": "MIM:251950", "name": "Mitochondrial myopathy with lactic acidosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0016825", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0017400", "disease_id": "MONDO:0017400", "recommended_name": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "synonyms": [ { "id": "MONDO:0017400", "name": "Mitchell-Riley syndrome" }, { "id": "MONDO:0017400", "name": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" }, { "id": "MONDO:0017400", "name": "MTCHRS" }, { "id": "MIM:615710", "name": "Mitchell-Riley syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0017400", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0017454", "disease_id": "MONDO:0017454", "recommended_name": "triphalangeal thumb-polysyndactyly syndrome", "synonyms": [ { "id": "MONDO:0017454", "name": "TPT-PS syndrome" }, { "id": "MIM:190605", "name": "Triphalangeal thumb with polysyndactyly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0017454", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0017715", "disease_id": "MONDO:0017715", "recommended_name": "3-hydroxyacyl-CoA dehydrogenase deficiency", "synonyms": [ { "id": "MIM:231530", "name": "3-alpha-hydroxyacyl-CoA dehydrogenase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0017715", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0017734", "disease_id": "MONDO:0017734", "recommended_name": "sialidosis", "synonyms": [], "record_url": "https://monarchinitiative.org/disease/MONDO:0017734", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0017790", "disease_id": "MONDO:0017790", "recommended_name": "gastric adenocarcinoma and proximal polyposis of the stomach", "synonyms": [ { "id": "MONDO:0017790", "name": "APC-related gastric adenocarcinoma and proximal polyposis of the stomach" }, { "id": "MONDO:0017790", "name": "GAPPS" }, { "id": "MONDO:0017790", "name": "familial fundic gland polyposis with gastric cancer" }, { "id": "MONDO:0017790", "name": "fundic gland polyposis" }, { "id": "MONDO:0017790", "name": "polyposis, gastric" }, { "id": "MONDO:0017790", "name": "polyposis, gastric, Dos Santos and de Magalhaes 1980" }, { "id": "MIM:619182", "name": "Gastric adenocarcinoma and proximal polyposis of the stomach" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0017790", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018273", "disease_id": "MONDO:0018273", "recommended_name": "XYLT1-congenital disorder of glycosylation", "synonyms": [ { "id": "MONDO:0018273", "name": "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" }, { "id": "MONDO:0018273", "name": "XYLT1-congenital disorder of glycosylation" }, { "id": "MONDO:0018273", "name": "XYLT18-CDG" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018273", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018346", "disease_id": "MONDO:0018346", "recommended_name": "ferro-cerebro-cutaneous syndrome", "synonyms": [ { "id": "MONDO:0018346", "name": "FCCS" }, { "id": "MONDO:0018346", "name": "cerebro-cutaneous syndrome with iron overload" }, { "id": "MIM:301072", "name": "Neurodevelopmental disorder with epilepsy and hemochromatosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018346", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018445", "disease_id": "MONDO:0018445", "recommended_name": "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome", "synonyms": [ { "id": "MONDO:0018445", "name": "GLOW" }, { "id": "MONDO:0018445", "name": "GLOW syndrome, somatic mosaic" }, { "id": "MONDO:0018445", "name": "global developmental delay, lung cysts, overgrowth, and wilms tumor" }, { "id": "MONDO:0018445", "name": "global developmental delay, lung cysts, overgrowth, and wilms tumour" }, { "id": "MONDO:0018445", "name": "glow syndrome" }, { "id": "MIM:618272", "name": "Global developmental delay, lung cysts, overgrowth, and Wilms tumor" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018445", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018485", "disease_id": "MONDO:0018485", "recommended_name": "glycogen storage disease due to acid maltase deficiency, late-onset", "synonyms": [ { "id": "MONDO:0018485", "name": "Alpha-1,4-glucosidase acid deficiency, late onset" }, { "id": "MONDO:0018485", "name": "Alpha-1,4-glucosidase acid deficiency, late-onset" }, { "id": "MONDO:0018485", "name": "GSD due to acid maltase deficiency, late onset" }, { "id": "MONDO:0018485", "name": "GSD due to acid maltase deficiency, late-onset" }, { "id": "MONDO:0018485", "name": "GSD type 2, late onset" }, { "id": "MONDO:0018485", "name": "GSD type 2, late-onset" }, { "id": "MONDO:0018485", "name": "GSD type II, late onset" }, { "id": "MONDO:0018485", "name": "GSD type II, late-onset" }, { "id": "MONDO:0018485", "name": "LOPD" }, { "id": "MONDO:0018485", "name": "Pompe disease, late onset" }, { "id": "MONDO:0018485", "name": "Pompe disease, late-onset" }, { "id": "MONDO:0018485", "name": "glycogen storage disease type 2, late onset" }, { "id": "MONDO:0018485", "name": "glycogen storage disease type 2, late-onset" }, { "id": "MONDO:0018485", "name": "glycogen storage disease type II, late onset" }, { "id": "MONDO:0018485", "name": "glycogen storage disease type II, late-onset" }, { "id": "MONDO:0018485", "name": "glycogenosis type 2, late onset" }, { "id": "MONDO:0018485", "name": "glycogenosis type 2, late-onset" }, { "id": "MONDO:0018485", "name": "glycogenosis type II, late onset" }, { "id": "MONDO:0018485", "name": "glycogenosis type II, late-onset" }, { "id": "MIM:621314", "name": "Pompe disease, late-onset" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018485", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018657", "disease_id": "MONDO:0018657", "recommended_name": "pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome", "synonyms": [ { "id": "MONDO:0018657", "name": "CAPOK" }, { "id": "MIM:618373", "name": "Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018657", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018663", "disease_id": "MONDO:0018663", "recommended_name": "regressive spondylometaphyseal dysplasia", "synonyms": [ { "id": "MONDO:0018663", "name": "Pelger-Huet anomaly with mild skeletal anomalies" }, { "id": "MONDO:0018663", "name": "regressive spondylometaphyseal dysplasia" }, { "id": "MIM:618019", "name": "Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018663", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018764", "disease_id": "MONDO:0018764", "recommended_name": "microcephalic primordial dwarfism due to RTTN deficiency", "synonyms": [ { "id": "MIM:614833", "name": "Microcephaly, short stature, and polymicrogyria with or without seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018764", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018794", "disease_id": "MONDO:0018794", "recommended_name": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "synonyms": [ { "id": "MONDO:0018794", "name": "PLA2G4A-related platelet dysfunction" }, { "id": "MONDO:0018794", "name": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" }, { "id": "MONDO:0018794", "name": "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" }, { "id": "MONDO:0018794", "name": "GURDP" }, { "id": "MIM:618372", "name": "Gastrointestinal ulceration, recurrent, with dysfunctional platelets" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018794", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018816", "disease_id": "MONDO:0018816", "recommended_name": "isolated neonatal sclerosing cholangitis", "synonyms": [ { "id": "MONDO:0018816", "name": "NSC" }, { "id": "MIM:617394", "name": "Sclerosing cholangitis, neonatal" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018816", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018828", "disease_id": "MONDO:0018828", "recommended_name": "pseudo-TORCH syndrome 2", "synonyms": [ { "id": "MONDO:0018828", "name": "pseudo-TORCH syndrome 2" }, { "id": "MONDO:0018828", "name": "PTORCH2" }, { "id": "MIM:617397", "name": "Pseudo-TORCH syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018828", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018868", "disease_id": "MONDO:0018868", "recommended_name": "metachromatic leukodystrophy", "synonyms": [ { "id": "MONDO:0018868", "name": "MLD" }, { "id": "MONDO:0018868", "name": "arylsulfatase A deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018868", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0018959", "disease_id": "MONDO:0018959", "recommended_name": "potassium-aggravated myotonia", "synonyms": [ { "id": "MONDO:0018959", "name": "K+-aggravated myotonia" }, { "id": "MONDO:0018959", "name": "K-aggravated myotonia" }, { "id": "MONDO:0018959", "name": "PAM" }, { "id": "MONDO:0018959", "name": "Potassium aggravated myotonia" }, { "id": "MONDO:0018959", "name": "myotonia congenita, atypical, acetazolamide-responsive" }, { "id": "MIM:608390", "name": "Myotonia SCN4A-related" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0018959", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020495", "disease_id": "MONDO:0020495", "recommended_name": "PEHO-like syndrome", "synonyms": [ { "id": "MONDO:0020495", "name": "PEHO syndrome-like" }, { "id": "MONDO:0020495", "name": "peho-like syndrome" }, { "id": "MONDO:0020495", "name": "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" }, { "id": "MONDO:0020495", "name": "PEHOL" }, { "id": "MIM:617507", "name": "PEHO-like syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020495", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020609", "disease_id": "MONDO:0020609", "recommended_name": "obsolete blood group, colton system", "synonyms": [ { "id": "MONDO:0020609", "name": "aquaporin-1 deficiency" }, { "id": "MONDO:0020609", "name": "blood group, Colton" }, { "id": "MONDO:0020609", "name": "CO" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020609", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020610", "disease_id": "MONDO:0020610", "recommended_name": "obsolete blood group, diego system", "synonyms": [ { "id": "MONDO:0020610", "name": "blood group, Diego" }, { "id": "MONDO:0020610", "name": "DI" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020610", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020611", "disease_id": "MONDO:0020611", "recommended_name": "obsolete blood group--kell system", "synonyms": [ { "id": "MONDO:0020611", "name": "blood group, Kell" }, { "id": "MONDO:0020611", "name": "KEL" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020611", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020612", "disease_id": "MONDO:0020612", "recommended_name": "obsolete blood group, kidd system", "synonyms": [ { "id": "MONDO:0020612", "name": "blood group, Kidd" }, { "id": "MONDO:0020612", "name": "JK" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020612", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020614", "disease_id": "MONDO:0020614", "recommended_name": "obsolete blood group--lutheran system", "synonyms": [ { "id": "MONDO:0020614", "name": "blood group, Auberger system" }, { "id": "MONDO:0020614", "name": "blood group, Lutheran system" }, { "id": "MONDO:0020614", "name": "LU" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020614", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020615", "disease_id": "MONDO:0020615", "recommended_name": "obsolete blood group system, landsteiner-wiener", "synonyms": [ { "id": "MONDO:0020615", "name": "blood group, Landsteiner-Wiener" }, { "id": "MONDO:0020615", "name": "LW" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020615", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020616", "disease_id": "MONDO:0020616", "recommended_name": "obsolete blood group, mn", "synonyms": [ { "id": "MONDO:0020616", "name": "blood group, MNSs system" }, { "id": "MONDO:0020616", "name": "MN" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020616", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020617", "disease_id": "MONDO:0020617", "recommended_name": "obsolete blood group--ok", "synonyms": [ { "id": "MONDO:0020617", "name": "blood group, OK" }, { "id": "MONDO:0020617", "name": "OK" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020617", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020619", "disease_id": "MONDO:0020619", "recommended_name": "obsolete blood group, langereis system", "synonyms": [ { "id": "MONDO:0020619", "name": "blood group, Langereis system" }, { "id": "MONDO:0020619", "name": "LAN" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020619", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020620", "disease_id": "MONDO:0020620", "recommended_name": "obsolete blood group, ss", "synonyms": [ { "id": "MONDO:0020620", "name": "blood group, Ss" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020620", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020621", "disease_id": "MONDO:0020621", "recommended_name": "obsolete blood group--scianna system", "synonyms": [ { "id": "MONDO:0020621", "name": "blood group, Scianna system" }, { "id": "MONDO:0020621", "name": "SC" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020621", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020624", "disease_id": "MONDO:0020624", "recommended_name": "obsolete blood group--waldner type", "synonyms": [ { "id": "MONDO:0020624", "name": "blood group, Waldner" }, { "id": "MONDO:0020624", "name": "WD" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020624", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020625", "disease_id": "MONDO:0020625", "recommended_name": "obsolete blood group--wright antigen", "synonyms": [ { "id": "MONDO:0020625", "name": "blood group, Wright" }, { "id": "MONDO:0020625", "name": "WR" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020625", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020626", "disease_id": "MONDO:0020626", "recommended_name": "obsolete yt blood group antigen", "synonyms": [ { "id": "MONDO:0020626", "name": "blood group, Yt system" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020626", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020628", "disease_id": "MONDO:0020628", "recommended_name": "microcephaly, growth restriction, and increased sister chromatid exchange 2", "synonyms": [ { "id": "MONDO:0020628", "name": "microcephaly, growth restriction, and increased sister chromatid exchange 2" }, { "id": "MONDO:0020628", "name": "MGRISCE2" }, { "id": "MIM:618097", "name": "Microcephaly, growth restriction, and increased sister chromatid exchange 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020628", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020647", "disease_id": "MONDO:0020647", "recommended_name": "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome", "synonyms": [ { "id": "MONDO:0020647", "name": "MFRG" }, { "id": "MONDO:0020647", "name": "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" }, { "id": "MIM:618142", "name": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020647", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020705", "disease_id": "MONDO:0020705", "recommended_name": "neural tube defects, susceptibility to", "synonyms": [ { "id": "MONDO:0020705", "name": "neural tube defects" }, { "id": "MONDO:0020705", "name": "spina bifida, susceptibility to" }, { "id": "MONDO:0020705", "name": "NTD" }, { "id": "MIM:182940", "name": "Neural tube defects" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020705", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020715", "disease_id": "MONDO:0020715", "recommended_name": "multiple system atrophy 1, susceptibility to", "synonyms": [ { "id": "MONDO:0020715", "name": "MSA1" }, { "id": "MONDO:0020715", "name": "MSA1, susceptibility to" }, { "id": "MONDO:0020715", "name": "multiple system atrophy 1, susceptibility to" }, { "id": "MONDO:0020715", "name": "multiple system atrophy, susceptibility to" }, { "id": "MIM:146500", "name": "Multiple system atrophy 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020715", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020718", "disease_id": "MONDO:0020718", "recommended_name": "congenital short bowel syndrome, autosomal recessive", "synonyms": [ { "id": "MONDO:0020718", "name": "CSBS" }, { "id": "MONDO:0020718", "name": "congenital short bowel syndrome" }, { "id": "MONDO:0020718", "name": "congenital short bowel syndrome 1" }, { "id": "MONDO:0020718", "name": "congenital short bowel syndrome due to CLMP variation" }, { "id": "MIM:615237", "name": "Congenital short bowel syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020718", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020728", "disease_id": "MONDO:0020728", "recommended_name": "hypouricemia, renal 1", "synonyms": [ { "id": "MONDO:0020728", "name": "RHUC1" }, { "id": "MONDO:0020728", "name": "hypouricemia, renal, 1" }, { "id": "MONDO:0020728", "name": "hypouricemia, renal, type 1" }, { "id": "MIM:220150", "name": "Hypouricemia renal 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020728", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020734", "disease_id": "MONDO:0020734", "recommended_name": "obsolete erythrocyte AMP deaminase deficiency", "synonyms": [ { "id": "MONDO:0020734", "name": "AMP deaminase deficiency, erythrocytic" }, { "id": "MONDO:0020734", "name": "erythrocyte AMP deaminase deficiency" }, { "id": "MIM:612874", "name": "Adenosine monophosphate deaminase deficiency erythrocyte type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020734", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020736", "disease_id": "MONDO:0020736", "recommended_name": "uncombable hair syndrome 1", "synonyms": [ { "id": "MONDO:0020736", "name": "uncombable hair syndrome 1" }, { "id": "MONDO:0020736", "name": "UHS1" }, { "id": "MIM:191480", "name": "Uncombable hair syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020736", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020745", "disease_id": "MONDO:0020745", "recommended_name": "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome", "synonyms": [ { "id": "MONDO:0020745", "name": "VACRDS" }, { "id": "MONDO:0020745", "name": "autosomal dominant cardiac arrhythmia (Kuhn)" }, { "id": "MONDO:0020745", "name": "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" }, { "id": "MIM:115000", "name": "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020745", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020750", "disease_id": "MONDO:0020750", "recommended_name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2", "synonyms": [ { "id": "MIM:618193", "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020750", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020751", "disease_id": "MONDO:0020751", "recommended_name": "orthostatic hypotension 2", "synonyms": [ { "id": "MIM:618182", "name": "Orthostatic hypotension 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020751", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020762", "disease_id": "MONDO:0020762", "recommended_name": "diencephalic-mesencephalic junction dysplasia syndrome 2", "synonyms": [ { "id": "MONDO:0020762", "name": "DMJDS2" }, { "id": "MIM:618646", "name": "Diencephalic-mesencephalic junction dysplasia syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020762", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020763", "disease_id": "MONDO:0020763", "recommended_name": "Menke-Hennekam syndrome 1", "synonyms": [ { "id": "MONDO:0020763", "name": "Menke-Hennekam syndrome 1" }, { "id": "MONDO:0020763", "name": "MKHK1" }, { "id": "MIM:618332", "name": "Menke-Hennekam syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020763", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020769", "disease_id": "MONDO:0020769", "recommended_name": "Menke-Hennekam syndrome 2", "synonyms": [ { "id": "MONDO:0020769", "name": "Menke-Hennekam syndrome 2" }, { "id": "MONDO:0020769", "name": "MKHK2" }, { "id": "MIM:618333", "name": "Menke-Hennekam syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020769", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020775", "disease_id": "MONDO:0020775", "recommended_name": "congenital disorder of glycosylation with defective fucosylation 1", "synonyms": [ { "id": "MONDO:0020775", "name": "CDGF1" }, { "id": "MIM:618005", "name": "Congenital disorder of glycosylation with defective fucosylation 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020775", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020777", "disease_id": "MONDO:0020777", "recommended_name": "congenital disorder of glycosylation with defective fucosylation 2", "synonyms": [ { "id": "MONDO:0020777", "name": "CDGF2" }, { "id": "MIM:618324", "name": "Congenital disorder of glycosylation with defective fucosylation 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020777", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020778", "disease_id": "MONDO:0020778", "recommended_name": "cone-rod dystrophy and hearing loss 1", "synonyms": [ { "id": "MONDO:0020778", "name": "cone-rod dystrophy and hearing loss" }, { "id": "MONDO:0020778", "name": "CRDHL1" }, { "id": "MIM:617236", "name": "Cone-rod dystrophy and hearing loss 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020778", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020780", "disease_id": "MONDO:0020780", "recommended_name": "cone-rod dystrophy and hearing loss 2", "synonyms": [ { "id": "MONDO:0020780", "name": "CRDHL2" }, { "id": "MIM:618358", "name": "Cone-rod dystrophy and hearing loss 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020780", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020781", "disease_id": "MONDO:0020781", "recommended_name": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1", "synonyms": [ { "id": "MONDO:0020781", "name": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" }, { "id": "MONDO:0020781", "name": "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy" }, { "id": "MONDO:0020781", "name": "NAD(P)HX epimerase deficiency" }, { "id": "MONDO:0020781", "name": "PEBEL1" }, { "id": "MIM:617186", "name": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020781", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020783", "disease_id": "MONDO:0020783", "recommended_name": "capillary malformation-arteriovenous malformation 1", "synonyms": [ { "id": "MONDO:0020783", "name": "CMAVM1" }, { "id": "MONDO:0020783", "name": "RASA1-related capillary malformation-arteriovenous malformation" }, { "id": "MONDO:0020783", "name": "capillary malformation-arteriovenous malformation 1" }, { "id": "MIM:608354", "name": "Capillary malformation-arteriovenous malformation 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020783", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020784", "disease_id": "MONDO:0020784", "recommended_name": "obsolete short sleep, familial natural, 1", "synonyms": [ { "id": "MONDO:0020784", "name": "short sleep, familial natural, 1" }, { "id": "MONDO:0020784", "name": "FNSS1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020784", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020785", "disease_id": "MONDO:0020785", "recommended_name": "capillary malformation-arteriovenous malformation 2", "synonyms": [ { "id": "MONDO:0020785", "name": "CMAVM2" }, { "id": "MIM:618196", "name": "Capillary malformation-arteriovenous malformation 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020785", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020787", "disease_id": "MONDO:0020787", "recommended_name": "hypomagnesemia, seizures, and intellectual disability 1", "synonyms": [ { "id": "MONDO:0020787", "name": "hypomagnesemia, seizures, and mental retardation" }, { "id": "MONDO:0020787", "name": "HOMGSMR1" }, { "id": "MIM:616418", "name": "Hypomagnesemia, seizures, and impaired intellectual development 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020787", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020788", "disease_id": "MONDO:0020788", "recommended_name": "hypomagnesemia, seizures, and intellectual disability 2", "synonyms": [ { "id": "MONDO:0020788", "name": "HOMGSMR2" }, { "id": "MIM:618314", "name": "Hypomagnesemia, seizures, and impaired intellectual development 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020788", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020790", "disease_id": "MONDO:0020790", "recommended_name": "gaze palsy, familial horizontal, with progressive scoliosis 1", "synonyms": [ { "id": "MONDO:0020790", "name": "HGPPS" }, { "id": "MONDO:0020790", "name": "HGPPS1" }, { "id": "MONDO:0020790", "name": "gaze palsy, familial horizontal, with progressive scoliosis 1" }, { "id": "MONDO:0020790", "name": "gaze palsy, familial horizontal, with progressive scoliosis, 1" }, { "id": "MIM:607313", "name": "Gaze palsy, familial horizontal, with progressive scoliosis, 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020790", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020795", "disease_id": "MONDO:0020795", "recommended_name": "Silver-Russell syndrome 5", "synonyms": [ { "id": "MONDO:0020795", "name": "SILVER-RUSSELL SYNDROME 5" }, { "id": "MONDO:0020795", "name": "SRS5" }, { "id": "MONDO:0020795", "name": "Silver-Russell syndrome 5" }, { "id": "MIM:618908", "name": "Silver-Russell syndrome 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020795", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020837", "disease_id": "MONDO:0020837", "recommended_name": "oocyte maturation defect 5", "synonyms": [ { "id": "MONDO:0020837", "name": "OOMD5" }, { "id": "MONDO:0020837", "name": "oocyte maturation defect 5" }, { "id": "MIM:617996", "name": "Oocyte/zygote/embryo maturation arrest 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020837", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020841", "disease_id": "MONDO:0020841", "recommended_name": "neurodevelopmental disorder with cerebellar atrophy and with or without seizures", "synonyms": [ { "id": "MONDO:0020841", "name": "NEDCAS" }, { "id": "MONDO:0020841", "name": "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" }, { "id": "MIM:618056", "name": "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020841", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020848", "disease_id": "MONDO:0020848", "recommended_name": "osteopetrosis, autosomal dominant 3", "synonyms": [ { "id": "MONDO:0020848", "name": "OPTA3" }, { "id": "MONDO:0020848", "name": "OSTEOPETROSIS, autosomal dominant 3" }, { "id": "MIM:618107", "name": "Osteopetrosis, autosomal dominant 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020848", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020853", "disease_id": "MONDO:0020853", "recommended_name": "encephalitis/encephalopathy, mild, with reversible myelin vacuolization", "synonyms": [ { "id": "MONDO:0020853", "name": "Encephalitis/encephalopathy, mild, with reversible splenial lesion" }, { "id": "MONDO:0020853", "name": "MMERV" }, { "id": "MONDO:0020853", "name": "encephalitis/encephalopathy, mild, with reversible myelin vacuolization" }, { "id": "MIM:618113", "name": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020853", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020854", "disease_id": "MONDO:0020854", "recommended_name": "Liddle syndrome 2", "synonyms": [ { "id": "MONDO:0020854", "name": "LIDLS2" }, { "id": "MONDO:0020854", "name": "Liddle syndrome 2" }, { "id": "MONDO:0020854", "name": "Liddle syndrome caused by mutation in SCNN1G" }, { "id": "MONDO:0020854", "name": "SCNN1G Liddle syndrome" }, { "id": "MIM:618114", "name": "Liddle syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020854", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0020856", "disease_id": "MONDO:0020856", "recommended_name": "bone marrow failure syndrome 4", "synonyms": [ { "id": "MONDO:0020856", "name": "BMFS4" }, { "id": "MONDO:0020856", "name": "BONE MARROW FAILURE SYNDROME 4" }, { "id": "MIM:618116", "name": "Bone marrow failure syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0020856", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0021024", "disease_id": "MONDO:0021024", "recommended_name": "malaria, susceptibility to", "synonyms": [ { "id": "MONDO:0021024", "name": "malaria, Severe, resistance to" }, { "id": "MONDO:0021024", "name": "malaria, Severe, susceptibility to" }, { "id": "MONDO:0021024", "name": "malaria, cerebral, reduced risk of" }, { "id": "MONDO:0021024", "name": "malaria, cerebral, resistance to" }, { "id": "MONDO:0021024", "name": "malaria, cerebral, susceptibility to" }, { "id": "MONDO:0021024", "name": "malaria, protection against" }, { "id": "MONDO:0021024", "name": "malaria, resistance to" }, { "id": "MONDO:0021024", "name": "malaria, susceptibility to" }, { "id": "MONDO:0021024", "name": "malaria, vivax, protection against" }, { "id": "MONDO:0021024", "name": "resistance to malaria due to G6PD deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0021024", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0021571", "disease_id": "MONDO:0021571", "recommended_name": "multiple sclerosis, susceptibility to 1", "synonyms": [ { "id": "MONDO:0021571", "name": "MS1" }, { "id": "MONDO:0021571", "name": "multiple sclerosis, disease progression, modifier of" }, { "id": "MONDO:0021571", "name": "multiple sclerosis, susceptibility to, 1" }, { "id": "MONDO:0021571", "name": "MS" }, { "id": "MONDO:0021571", "name": "multiple sclerosis, susceptibility to" }, { "id": "MIM:126200", "name": "Multiple sclerosis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0021571", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0021573", "disease_id": "MONDO:0021573", "recommended_name": "oocyte maturation defect 2", "synonyms": [ { "id": "MONDO:0021573", "name": "OOMD2" }, { "id": "MONDO:0021573", "name": "TUBB8 inherited oocyte maturation defect" }, { "id": "MONDO:0021573", "name": "inherited oocyte maturation defect caused by mutation in TUBB8" }, { "id": "MONDO:0021573", "name": "oocyte maturation defect 2" }, { "id": "MIM:616780", "name": "Oocyte/zygote/embryo maturation arrest 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0021573", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0021574", "disease_id": "MONDO:0021574", "recommended_name": "oocyte maturation defect 3", "synonyms": [ { "id": "MONDO:0021574", "name": "OOMD3" }, { "id": "MONDO:0021574", "name": "oocyte maturation defect 3" }, { "id": "MIM:617712", "name": "Oocyte/zygote/embryo maturation arrest 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0021574", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0021575", "disease_id": "MONDO:0021575", "recommended_name": "oocyte maturation defect 4", "synonyms": [ { "id": "MONDO:0021575", "name": "OOMD4" }, { "id": "MONDO:0021575", "name": "oocyte maturation defect 4" }, { "id": "MIM:617743", "name": "Oocyte/zygote/embryo maturation arrest 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0021575", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0023655", "disease_id": "MONDO:0023655", "recommended_name": "immunodeficiency 14b, autosomal recessive", "synonyms": [ { "id": "MONDO:0023655", "name": "IMD14B" }, { "id": "MIM:619281", "name": "Immunodeficiency 14B, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0023655", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0023660", "disease_id": "MONDO:0023660", "recommended_name": "angioedema, hereditary, 6", "synonyms": [ { "id": "MONDO:0023660", "name": "HAE6" }, { "id": "MIM:619363", "name": "Angioedema, hereditary, 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0023660", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0023662", "disease_id": "MONDO:0023662", "recommended_name": "lymphatic malformation 10", "synonyms": [ { "id": "MONDO:0023662", "name": "LMPHM10" }, { "id": "MIM:619369", "name": "Lymphatic malformation 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0023662", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024266", "disease_id": "MONDO:0024266", "recommended_name": "patent ductus arteriosus 3", "synonyms": [ { "id": "MONDO:0024266", "name": "PDA3" }, { "id": "MONDO:0024266", "name": "PRDM6 patent ductus arteriosus" }, { "id": "MONDO:0024266", "name": "patent ductus arteriosus 3" }, { "id": "MONDO:0024266", "name": "patent ductus arteriosus caused by mutation in PRDM6" }, { "id": "MIM:617039", "name": "Patent ductus arteriosus 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024266", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024520", "disease_id": "MONDO:0024520", "recommended_name": "renal hypodysplasia/aplasia 3", "synonyms": [ { "id": "MONDO:0024520", "name": "RHDA3" }, { "id": "MONDO:0024520", "name": "renal hypodysplasia/aplasia 3" }, { "id": "MIM:617805", "name": "Renal hypodysplasia/aplasia 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024520", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024526", "disease_id": "MONDO:0024526", "recommended_name": "Zimmermann-Laband syndrome 1", "synonyms": [ { "id": "MONDO:0024526", "name": "KCNH1 Zimmermann-Laband syndrome" }, { "id": "MONDO:0024526", "name": "Laband Syndrome" }, { "id": "MONDO:0024526", "name": "ZLS1" }, { "id": "MONDO:0024526", "name": "Zimmermann-Laband syndrome 1" }, { "id": "MONDO:0024526", "name": "Zimmermann-Laband syndrome caused by mutation in KCNH1" }, { "id": "MONDO:0024526", "name": "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" }, { "id": "MIM:135500", "name": "Zimmermann-Laband syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024526", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024532", "disease_id": "MONDO:0024532", "recommended_name": "otofaciocervical syndrome 1", "synonyms": [ { "id": "MONDO:0024532", "name": "OFC" }, { "id": "MONDO:0024532", "name": "OTFCS" }, { "id": "MONDO:0024532", "name": "otofaciocervical syndrome" }, { "id": "MONDO:0024532", "name": "EYA1 otofaciocervical syndrome" }, { "id": "MONDO:0024532", "name": "otofaciocervical syndrome 1" }, { "id": "MONDO:0024532", "name": "otofaciocervical syndrome caused by mutation in EYA1" }, { "id": "MONDO:0024532", "name": "OFC1" }, { "id": "MIM:166780", "name": "Otofaciocervical syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024532", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024535", "disease_id": "MONDO:0024535", "recommended_name": "Singleton-Merten syndrome 1", "synonyms": [ { "id": "MONDO:0024535", "name": "IFIH1 singleton-Merten dysplasia" }, { "id": "MONDO:0024535", "name": "singleton-Merten dysplasia caused by mutation in IFIH1" }, { "id": "MONDO:0024535", "name": "SGMRT1" }, { "id": "MIM:182250", "name": "Singleton-Merten syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024535", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024558", "disease_id": "MONDO:0024558", "recommended_name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 1", "synonyms": [ { "id": "MONDO:0024558", "name": "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" }, { "id": "MONDO:0024558", "name": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11" }, { "id": "MONDO:0024558", "name": "radioulnar synostosis with amegakaryocytic thrombocytopenia 1" }, { "id": "MONDO:0024558", "name": "RUSAT1" }, { "id": "MIM:605432", "name": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024558", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024563", "disease_id": "MONDO:0024563", "recommended_name": "herpes simplex encephalitis, susceptibility to, 1", "synonyms": [ { "id": "MONDO:0024563", "name": "UNC93B1 herpes simplex encephalitis" }, { "id": "MONDO:0024563", "name": "herpes simplex encephalitis caused by mutation in UNC93B1" }, { "id": "MONDO:0024563", "name": "herpes simplex encephalitis, susceptibility to, 1" }, { "id": "MONDO:0024563", "name": "IIAE1" }, { "id": "MIM:610551", "name": "Encephalopathy, acute, infection-induced, 1, herpes-specific" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024563", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024564", "disease_id": "MONDO:0024564", "recommended_name": "cerebroretinal microangiopathy with calcifications and cysts 1", "synonyms": [ { "id": "MONDO:0024564", "name": "cerebroretinal microangiopathy with calcifications and cysts" }, { "id": "MONDO:0024564", "name": "CTC1 Coats plus syndrome" }, { "id": "MONDO:0024564", "name": "Coats plus syndrome caused by mutation in CTC1" }, { "id": "MONDO:0024564", "name": "cerebroretinal microangiopathy with calcifications and cysts 1" }, { "id": "MONDO:0024564", "name": "CRMCC1" }, { "id": "MIM:612199", "name": "Cerebroretinal microangiopathy with calcifications and cysts 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024564", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024565", "disease_id": "MONDO:0024565", "recommended_name": "ectodermal dysplasia-syndactyly syndrome 1", "synonyms": [ { "id": "MONDO:0024565", "name": "NECTIN4 ectodermal dysplasia-syndactyly syndrome" }, { "id": "MONDO:0024565", "name": "ectodermal dysplasia-syndactyly syndrome 1" }, { "id": "MONDO:0024565", "name": "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4" }, { "id": "MONDO:0024565", "name": "EDSS1" }, { "id": "MIM:613573", "name": "Ectodermal dysplasia-syndactyly syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024565", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024567", "disease_id": "MONDO:0024567", "recommended_name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "synonyms": [ { "id": "MONDO:0024567", "name": "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" }, { "id": "MONDO:0024567", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" }, { "id": "MONDO:0024567", "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" }, { "id": "MONDO:0024567", "name": "IHPRF1" }, { "id": "MIM:615419", "name": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024567", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024570", "disease_id": "MONDO:0024570", "recommended_name": "hyperparathyroidism 4", "synonyms": [ { "id": "MONDO:0024570", "name": "GCM2 familial isolated hyperparathyroidism" }, { "id": "MONDO:0024570", "name": "familial isolated hyperparathyroidism caused by mutation in GCM2" }, { "id": "MONDO:0024570", "name": "hyperparathyroidism 4" }, { "id": "MONDO:0024570", "name": "hyperparathyroidism type 4" }, { "id": "MONDO:0024570", "name": "HRPT4" }, { "id": "MIM:617343", "name": "Hyperparathyroidism 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024570", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024770", "disease_id": "MONDO:0024770", "recommended_name": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "synonyms": [ { "id": "MONDO:0024770", "name": "AIFBL2" }, { "id": "MONDO:0024770", "name": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2" }, { "id": "MONDO:0024770", "name": "deficiency 1n ELF4, X-linked" }, { "id": "MIM:301074", "name": "Autoinflammatory syndrome, familial, X-linked, Behcet-like 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024770", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0024771", "disease_id": "MONDO:0024771", "recommended_name": "myopathy, distal, 7, adult-onset, X-linked", "synonyms": [ { "id": "MONDO:0024771", "name": "MPD7" }, { "id": "MONDO:0024771", "name": "myopathy, distal, 7, adult-onset, X-linked" }, { "id": "MIM:301075", "name": "Myopathy, distal, 7, adult-onset, X-linked" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0024771", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0025351", "disease_id": "MONDO:0025351", "recommended_name": "multiple congenital anomalies-neurodevelopmental syndrome, X-linked", "synonyms": [ { "id": "MONDO:0025351", "name": "Linked syndrome" }, { "id": "MONDO:0025351", "name": "MCAND" }, { "id": "MONDO:0025351", "name": "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" }, { "id": "MIM:301056", "name": "Multiple congenital anomalies-neurodevelopmental syndrome, X-linked" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0025351", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0025356", "disease_id": "MONDO:0025356", "recommended_name": "azoospermia, obstructive, with nephrolithiasis", "synonyms": [ { "id": "MONDO:0025356", "name": "OAZON" }, { "id": "MONDO:0025356", "name": "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" }, { "id": "MIM:301060", "name": "Azoospermia, obstructive, with nephrolithiasis" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0025356", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0025690", "disease_id": "MONDO:0025690", "recommended_name": "microcephaly, epilepsy, and diabetes syndrome 2", "synonyms": [ { "id": "MONDO:0025690", "name": "MEDS2" }, { "id": "MIM:619278", "name": "Microcephaly, epilepsy, and diabetes syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0025690", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0025708", "disease_id": "MONDO:0025708", "recommended_name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 2", "synonyms": [ { "id": "MONDO:0025708", "name": "MMIHS2" }, { "id": "MIM:619351", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0025708", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0025712", "disease_id": "MONDO:0025712", "recommended_name": "angioedema, hereditary, 4", "synonyms": [ { "id": "MONDO:0025712", "name": "HAE4" }, { "id": "MIM:619360", "name": "Angioedema, hereditary, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0025712", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0025713", "disease_id": "MONDO:0025713", "recommended_name": "angioedema, hereditary, 7", "synonyms": [ { "id": "MONDO:0025713", "name": "HAE7" }, { "id": "MIM:619366", "name": "Angioedema, hereditary, 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0025713", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0026733", "disease_id": "MONDO:0026733", "recommended_name": "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type", "synonyms": [ { "id": "MONDO:0026733", "name": "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive" }, { "id": "MONDO:0026733", "name": "MRXSHD" }, { "id": "MIM:301039", "name": "Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0026733", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029130", "disease_id": "MONDO:0029130", "recommended_name": "polydactyly, postaxial, type A8", "synonyms": [ { "id": "MONDO:0029130", "name": "polydactyly, postaxial, type A8" }, { "id": "MONDO:0029130", "name": "PAPA8" }, { "id": "MIM:618123", "name": "Polydactyly, postaxial, A8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029130", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029131", "disease_id": "MONDO:0029131", "recommended_name": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development", "synonyms": [ { "id": "MONDO:0029131", "name": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" }, { "id": "MONDO:0029131", "name": "PNRIID" }, { "id": "MIM:618124", "name": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029131", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029132", "disease_id": "MONDO:0029132", "recommended_name": "Liddle syndrome 3", "synonyms": [ { "id": "MONDO:0029132", "name": "Liddle syndrome 3" }, { "id": "MONDO:0029132", "name": "LIDLS3" }, { "id": "MIM:618126", "name": "Liddle syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029132", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029133", "disease_id": "MONDO:0029133", "recommended_name": "muscular dystrophy, limb-girdle, autosomal dominant 4", "synonyms": [ { "id": "MONDO:0029133", "name": "LGMD type D4" }, { "id": "MONDO:0029133", "name": "LGMD1I" }, { "id": "MONDO:0029133", "name": "LGMDD4" }, { "id": "MONDO:0029133", "name": "calpain-3-related LGMD D4" }, { "id": "MONDO:0029133", "name": "calpain-3-related limb-girdle muscular dystrophy D4" }, { "id": "MONDO:0029133", "name": "limb-girdle muscular dystrophy type D4" }, { "id": "MONDO:0029133", "name": "muscular dystrophy, limb-girdle, autosomal dominant 4" }, { "id": "MONDO:0029133", "name": "muscular dystrophy, limb-girdle, type 1I" }, { "id": "MIM:618129", "name": "Muscular dystrophy, limb-girdle, autosomal dominant 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029133", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029141", "disease_id": "MONDO:0029141", "recommended_name": "Usher syndrome, type 4", "synonyms": [ { "id": "MONDO:0029141", "name": "Usher syndrome, type IV" }, { "id": "MONDO:0029141", "name": "USH4" }, { "id": "MIM:618144", "name": "Usher syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029141", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029143", "disease_id": "MONDO:0029143", "recommended_name": "intellectual developmental disorder with hypertelorism and distinctive facies", "synonyms": [ { "id": "MONDO:0029143", "name": "IDDHDF" }, { "id": "MIM:618147", "name": "Intellectual developmental disorder with hypertelorism and distinctive facies" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029143", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0029144", "disease_id": "MONDO:0029144", "recommended_name": "extraoral halitosis due to methanethiol oxidase deficiency", "synonyms": [ { "id": "MONDO:0029144", "name": "autosomal recessive extra-oral halitosis" }, { "id": "MIM:618148", "name": "Extraoral halitosis due to methanethiol oxidase deficiency" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0029144", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030004", "disease_id": "MONDO:0030004", "recommended_name": "autism, susceptibility to, 20", "synonyms": [ { "id": "MONDO:0030004", "name": "AUTISM, SUSCEPTIBILITY TO, 20" }, { "id": "MONDO:0030004", "name": "AUTS20" }, { "id": "MONDO:0030004", "name": "autism, susceptibility to, 20" }, { "id": "MIM:618830", "name": "Autism 20" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030004", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030010", "disease_id": "MONDO:0030010", "recommended_name": "hypogonadotropic hypogonadism 25 with anosmia", "synonyms": [ { "id": "MONDO:0030010", "name": "HH25" }, { "id": "MONDO:0030010", "name": "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA" }, { "id": "MONDO:0030010", "name": "hypogonadotropic hypogonadism 25 with anosmia" }, { "id": "MIM:618841", "name": "Hypogonadotropic hypogonadism 25 with anosmia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030010", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030012", "disease_id": "MONDO:0030012", "recommended_name": "Diets-Jongmans syndrome", "synonyms": [ { "id": "MONDO:0030012", "name": "DIETS-JONGMANS SYNDROME" }, { "id": "MONDO:0030012", "name": "DIJOS" }, { "id": "MONDO:0030012", "name": "Intellectual Developmental Disorder With Distinctive Facial Dysmorphism" }, { "id": "MONDO:0030012", "name": "diets-jongmans syndrome" }, { "id": "MIM:618846", "name": "Diets-Jongmans syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030012", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030015", "disease_id": "MONDO:0030015", "recommended_name": "bone marrow failure syndrome 6", "synonyms": [ { "id": "MONDO:0030015", "name": "BMFS6" }, { "id": "MONDO:0030015", "name": "BONE MARROW FAILURE SYNDROME 6" }, { "id": "MONDO:0030015", "name": "bone marrow failure syndrome 6" }, { "id": "MIM:618849", "name": "Bone marrow failure syndrome 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030015", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030018", "disease_id": "MONDO:0030018", "recommended_name": "autoinflammation with episodic fever and lymphadenopathy", "synonyms": [ { "id": "MONDO:0030018", "name": "AIEFL" }, { "id": "MONDO:0030018", "name": "AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY" }, { "id": "MONDO:0030018", "name": "Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome" }, { "id": "MONDO:0030018", "name": "Cria Syndrome" }, { "id": "MONDO:0030018", "name": "autoinflammation with episodic fever and lymphadenopathy" }, { "id": "MIM:618852", "name": "Autoinflammation with episodic fever and lymphadenopathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030018", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030024", "disease_id": "MONDO:0030024", "recommended_name": "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities", "synonyms": [ { "id": "MONDO:0030024", "name": "NEDASB" }, { "id": "MONDO:0030024", "name": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES" }, { "id": "MONDO:0030024", "name": "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" }, { "id": "MIM:618859", "name": "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030024", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030025", "disease_id": "MONDO:0030025", "recommended_name": "neurodevelopmental disorder with hypotonia, microcephaly, and seizures", "synonyms": [ { "id": "MONDO:0030025", "name": "NEDHYMS" }, { "id": "MONDO:0030025", "name": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES" }, { "id": "MONDO:0030025", "name": "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" }, { "id": "MIM:618862", "name": "Neurodevelopmental disorder with hypotonia, microcephaly, and seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030025", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030028", "disease_id": "MONDO:0030028", "recommended_name": "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline", "synonyms": [ { "id": "MONDO:0030028", "name": "CONATOC" }, { "id": "MONDO:0030028", "name": "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" }, { "id": "MIM:618868", "name": "Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030028", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030029", "disease_id": "MONDO:0030029", "recommended_name": "skeletal dysplasia, mild, with joint laxity and advanced bone age", "synonyms": [ { "id": "MONDO:0030029", "name": "SDJLABA" }, { "id": "MONDO:0030029", "name": "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE" }, { "id": "MONDO:0030029", "name": "skeletal dysplasia, mild, with joint laxity and advanced bone age" }, { "id": "MIM:618870", "name": "Skeletal dysplasia, mild, with joint laxity and advanced bone age" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030029", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030030", "disease_id": "MONDO:0030030", "recommended_name": "Nizon-Isidor syndrome", "synonyms": [ { "id": "MONDO:0030030", "name": "NIZIDS" }, { "id": "MONDO:0030030", "name": "NIZON-ISIDOR SYNDROME" }, { "id": "MONDO:0030030", "name": "nizon-isidor syndrome" }, { "id": "MIM:618872", "name": "Nizon-Isidor syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030030", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030033", "disease_id": "MONDO:0030033", "recommended_name": "seizures, early-onset, with neurodegeneration and brain calcifications", "synonyms": [ { "id": "MONDO:0030033", "name": "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS" }, { "id": "MONDO:0030033", "name": "SENEBAC" }, { "id": "MONDO:0030033", "name": "seizures, early-onset, with neurodegeneration and brain calcification" }, { "id": "MONDO:0030033", "name": "seizures, early-onset, with neurodegeneration and brain calcifications" }, { "id": "MIM:618875", "name": "Seizures, early-onset, with neurodegeneration and brain calcification" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030033", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030034", "disease_id": "MONDO:0030034", "recommended_name": "epilepsy, progressive myoclonic, 11", "synonyms": [ { "id": "MONDO:0030034", "name": "EPILEPSY, PROGRESSIVE MYOCLONIC, 11" }, { "id": "MONDO:0030034", "name": "EPM11" }, { "id": "MONDO:0030034", "name": "epilepsy, progressive myoclonic, 11" }, { "id": "MIM:618876", "name": "Epilepsy, progressive myoclonic 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030034", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030035", "disease_id": "MONDO:0030035", "recommended_name": "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome", "synonyms": [ { "id": "MONDO:0030035", "name": "LEUDEN" }, { "id": "MONDO:0030035", "name": "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME" }, { "id": "MONDO:0030035", "name": "Leuden Syndrome" }, { "id": "MONDO:0030035", "name": "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" }, { "id": "MIM:618877", "name": "Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030035", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030036", "disease_id": "MONDO:0030036", "recommended_name": "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome", "synonyms": [ { "id": "MONDO:0030036", "name": "LEMSPAD" }, { "id": "MONDO:0030036", "name": "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME" }, { "id": "MONDO:0030036", "name": "Lemspad Syndrome" }, { "id": "MONDO:0030036", "name": "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" }, { "id": "MIM:618878", "name": "Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030036", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030037", "disease_id": "MONDO:0030037", "recommended_name": "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures", "synonyms": [ { "id": "MONDO:0030037", "name": "Glycosylphosphatidylinositol Biosynthesis Defect 22" }, { "id": "MONDO:0030037", "name": "NEDHCAS" }, { "id": "MONDO:0030037", "name": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES" }, { "id": "MONDO:0030037", "name": "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" }, { "id": "MIM:618879", "name": "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030037", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030038", "disease_id": "MONDO:0030038", "recommended_name": "hereditary glaucoma, primary closed-angle", "synonyms": [ { "id": "MONDO:0030038", "name": "GLCC" }, { "id": "MONDO:0030038", "name": "glaucoma, primary closed-angle" }, { "id": "MONDO:0030038", "name": "hereditary primary angle-closure glaucoma" }, { "id": "MIM:618880", "name": "Glaucoma, primary closed-angle" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030038", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030042", "disease_id": "MONDO:0030042", "recommended_name": "proteinuria, chronic benign", "synonyms": [ { "id": "MONDO:0030042", "name": "PROCHOB" }, { "id": "MONDO:0030042", "name": "PROTEINURIA, CHRONIC BENIGN" }, { "id": "MONDO:0030042", "name": "proteinuria, chronic benign" }, { "id": "MIM:618884", "name": "Proteinuria, chronic benign" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030042", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030044", "disease_id": "MONDO:0030044", "recommended_name": "pseudo-TORCH syndrome 3", "synonyms": [ { "id": "MONDO:0030044", "name": "PSEUDO-TORCH SYNDROME 3" }, { "id": "MONDO:0030044", "name": "PTORCH3" }, { "id": "MONDO:0030044", "name": "pseudo-torch syndrome 3" }, { "id": "MIM:618886", "name": "Pseudo-TORCH syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030044", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030045", "disease_id": "MONDO:0030045", "recommended_name": "Liberfarb syndrome", "synonyms": [ { "id": "MONDO:0030045", "name": "LIBF" }, { "id": "MONDO:0030045", "name": "Liberfarb syndrome" }, { "id": "MONDO:0030045", "name": "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" }, { "id": "MONDO:0030045", "name": "spondyloepimetaphyseal dysplasia, Liberfarb Type" }, { "id": "MIM:618889", "name": "Liberfarb syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030045", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030046", "disease_id": "MONDO:0030046", "recommended_name": "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity", "synonyms": [ { "id": "MONDO:0030046", "name": "NEDBASS" }, { "id": "MONDO:0030046", "name": "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY" }, { "id": "MONDO:0030046", "name": "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" }, { "id": "MIM:618890", "name": "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030046", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030047", "disease_id": "MONDO:0030047", "recommended_name": "microcephaly, developmental delay, and brittle hair syndrome", "synonyms": [ { "id": "MONDO:0030047", "name": "MDBH" }, { "id": "MONDO:0030047", "name": "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME" }, { "id": "MONDO:0030047", "name": "microcephaly, developmental delay, and brittle hair syndrome" }, { "id": "MIM:618891", "name": "Microcephaly, developmental delay, and brittle hair syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030047", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030048", "disease_id": "MONDO:0030048", "recommended_name": "harderoporphyria", "synonyms": [ { "id": "MONDO:0030048", "name": "HARDEROPORPHYRIA" }, { "id": "MONDO:0030048", "name": "HARPO" }, { "id": "MONDO:0030048", "name": "harderoporphyria" }, { "id": "MIM:618892", "name": "Harderoporphyria" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030048", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030057", "disease_id": "MONDO:0030057", "recommended_name": "neurodevelopmental, jaw, eye, and digital syndrome", "synonyms": [ { "id": "MONDO:0030057", "name": "NEDJED" }, { "id": "MONDO:0030057", "name": "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" }, { "id": "MONDO:0030057", "name": "neurodevelopmental, jaw, eye, and digital syndrome" }, { "id": "MIM:618914", "name": "Neurodevelopmental, jaw, eye, and digital syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030057", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030060", "disease_id": "MONDO:0030060", "recommended_name": "neurodevelopmental disorder with language impairment and behavioral abnormalities", "synonyms": [ { "id": "MONDO:0030060", "name": "GRIA2-related complex neurodevelopmental disorder" }, { "id": "MONDO:0030060", "name": "NEDLIB" }, { "id": "MONDO:0030060", "name": "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" }, { "id": "MONDO:0030060", "name": "neurodevelopmental disorder with language impairment and behavioral abnormalities" }, { "id": "MIM:618917", "name": "Neurodevelopmental disorder with language impairment and behavioral abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030060", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030063", "disease_id": "MONDO:0030063", "recommended_name": "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities", "synonyms": [ { "id": "MONDO:0030063", "name": "NEDSHBA" }, { "id": "MONDO:0030063", "name": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" }, { "id": "MONDO:0030063", "name": "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" }, { "id": "MONDO:0030063", "name": "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" }, { "id": "MIM:618922", "name": "Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030063", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030069", "disease_id": "MONDO:0030069", "recommended_name": "hyper-IgE recurrent infection syndrome 5, autosomal recessive", "synonyms": [ { "id": "MONDO:0030069", "name": "HIES5" }, { "id": "MONDO:0030069", "name": "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE" }, { "id": "MONDO:0030069", "name": "hyper-IgE recurrent infection syndrome 5, autosomal recessive" }, { "id": "MIM:618944", "name": "Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030069", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030077", "disease_id": "MONDO:0030077", "recommended_name": "vertebral, cardiac, renal, and limb defects syndrome 3", "synonyms": [ { "id": "MONDO:0030077", "name": "Congenital Nad Deficiency Disorder 3" }, { "id": "MONDO:0030077", "name": "VCRL3" }, { "id": "MONDO:0030077", "name": "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3" }, { "id": "MONDO:0030077", "name": "vertebral, cardiac, renal, and limb defects syndrome 3" }, { "id": "MIM:618845", "name": "Vertebral, cardiac, renal, and limb defects syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030077", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030087", "disease_id": "MONDO:0030087", "recommended_name": "diabetes mellitus, permanent neonatal 2", "synonyms": [ { "id": "MONDO:0030087", "name": "DIABETES MELLITUS, PERMANENT NEONATAL 2" }, { "id": "MONDO:0030087", "name": "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" }, { "id": "MONDO:0030087", "name": "PNDM2" }, { "id": "MONDO:0030087", "name": "diabetes mellitus, permanent neonatal 2" }, { "id": "MONDO:0030087", "name": "diabetes, permanent neonatal 2, with or without neurologic features" }, { "id": "MIM:618856", "name": "Diabetes mellitus, permanent neonatal, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030087", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030088", "disease_id": "MONDO:0030088", "recommended_name": "diabetes mellitus, permanent neonatal 3", "synonyms": [ { "id": "MONDO:0030088", "name": "DIABETES MELLITUS, PERMANENT NEONATAL 3" }, { "id": "MONDO:0030088", "name": "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" }, { "id": "MONDO:0030088", "name": "PNDM3" }, { "id": "MONDO:0030088", "name": "diabetes mellitus, permanent neonatal 3" }, { "id": "MONDO:0030088", "name": "diabetes mellitus, permanent neonatal 3, with or without neurologic features" }, { "id": "MIM:618857", "name": "Diabetes mellitus, permanent neonatal, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030088", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030089", "disease_id": "MONDO:0030089", "recommended_name": "diabetes mellitus, permanent neonatal 4", "synonyms": [ { "id": "MONDO:0030089", "name": "DIABETES MELLITUS, PERMANENT NEONATAL 4" }, { "id": "MONDO:0030089", "name": "PNDM4" }, { "id": "MONDO:0030089", "name": "diabetes mellitus, permanent neonatal 4" }, { "id": "MIM:618858", "name": "Diabetes mellitus, permanent neonatal, 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030089", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030118", "disease_id": "MONDO:0030118", "recommended_name": "silver-russell syndrome 4", "synonyms": [ { "id": "MONDO:0030118", "name": "SILVER-RUSSELL SYNDROME 4" }, { "id": "MONDO:0030118", "name": "SRS4" }, { "id": "MONDO:0030118", "name": "silver-russell syndrome 4" }, { "id": "MIM:618907", "name": "Silver-Russell syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030118", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030270", "disease_id": "MONDO:0030270", "recommended_name": "lymphatic malformation 9", "synonyms": [ { "id": "MONDO:0030270", "name": "LMPHM9" }, { "id": "MONDO:0030270", "name": "lymphatic malformation 9" }, { "id": "MIM:619319", "name": "Lymphatic malformation 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030270", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030293", "disease_id": "MONDO:0030293", "recommended_name": "angioedema, hereditary, 5", "synonyms": [ { "id": "MONDO:0030293", "name": "HAE5" }, { "id": "MONDO:0030293", "name": "angioedema, hereditary, 5" }, { "id": "MIM:619361", "name": "Angioedema, hereditary, 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030293", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030294", "disease_id": "MONDO:0030294", "recommended_name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 3", "synonyms": [ { "id": "MONDO:0030294", "name": "MMIHS3" }, { "id": "MONDO:0030294", "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 3" }, { "id": "MIM:619362", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030294", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030296", "disease_id": "MONDO:0030296", "recommended_name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 4", "synonyms": [ { "id": "MONDO:0030296", "name": "MMIHS4" }, { "id": "MONDO:0030296", "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 4" }, { "id": "MIM:619365", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030296", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030298", "disease_id": "MONDO:0030298", "recommended_name": "angioedema, hereditary, 8", "synonyms": [ { "id": "MONDO:0030298", "name": "HAE8" }, { "id": "MONDO:0030298", "name": "angioedema, hereditary, 8" }, { "id": "MIM:619367", "name": "Angioedema, hereditary, 8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030298", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030314", "disease_id": "MONDO:0030314", "recommended_name": "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive", "synonyms": [ { "id": "MONDO:0030314", "name": "IBD31" }, { "id": "MONDO:0030314", "name": "inflammatory bowel disease (infantile ulcerative colitis) 31" }, { "id": "MONDO:0030314", "name": "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" }, { "id": "MIM:619398", "name": "Inflammatory bowel disease 31, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030314", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030316", "disease_id": "MONDO:0030316", "recommended_name": "lymphatic malformation 11", "synonyms": [ { "id": "MONDO:0030316", "name": "LMPHM11" }, { "id": "MONDO:0030316", "name": "lymphatic malformation 11" }, { "id": "MIM:619401", "name": "Lymphatic malformation 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030316", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030317", "disease_id": "MONDO:0030317", "recommended_name": "cardiomyopathy, familial hypertrophic, 28", "synonyms": [ { "id": "MONDO:0030317", "name": "CMH28" }, { "id": "MONDO:0030317", "name": "cardiomyopathy, familial hypertrophic, 28" }, { "id": "MIM:619402", "name": "Cardiomyopathy, familial hypertrophic, 28" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030317", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030329", "disease_id": "MONDO:0030329", "recommended_name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 5", "synonyms": [ { "id": "MONDO:0030329", "name": "MMIHS5" }, { "id": "MONDO:0030329", "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" }, { "id": "MIM:619431", "name": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030329", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030331", "disease_id": "MONDO:0030331", "recommended_name": "Ritscher-Schinzel syndrome 4", "synonyms": [ { "id": "MONDO:0030331", "name": "RTSC4" }, { "id": "MONDO:0030331", "name": "Ritscher-Schinzel syndrome 4" }, { "id": "MIM:619435", "name": "Ritscher-Schinzel syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030331", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030332", "disease_id": "MONDO:0030332", "recommended_name": "ciliary dyskinesia, primary, 46", "synonyms": [ { "id": "MONDO:0030332", "name": "CILD46" }, { "id": "MONDO:0030332", "name": "ciliary dyskinesia, primary, 46" }, { "id": "MIM:619436", "name": "Ciliary dyskinesia, primary, 46" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030332", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030334", "disease_id": "MONDO:0030334", "recommended_name": "encephalitis, acute, infection (viral)-induced, susceptibility to, 11", "synonyms": [ { "id": "MONDO:0030334", "name": "IIAE11" }, { "id": "MONDO:0030334", "name": "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" }, { "id": "MIM:619441", "name": "Encephalitis, acute, infection (viral)-induced, 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030334", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030335", "disease_id": "MONDO:0030335", "recommended_name": "diarrhea 12, with microvillus atrophy", "synonyms": [ { "id": "MONDO:0030335", "name": "DIAR12" }, { "id": "MONDO:0030335", "name": "diarrhea 12, with microvillus atrophy" }, { "id": "MONDO:0030335", "name": "microvillus inclusion disease 2" }, { "id": "MIM:619445", "name": "Diarrhea 12, with microvillus atrophy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030335", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030337", "disease_id": "MONDO:0030337", "recommended_name": "cutis laxa, autosomal recessive, type 2E", "synonyms": [ { "id": "MONDO:0030337", "name": "ARCL2E" }, { "id": "MONDO:0030337", "name": "cutis laxa, autosomal recessive, type 2E" }, { "id": "MONDO:0030337", "name": "cutis laxa, autosomal recessive, type IIE" }, { "id": "MIM:619451", "name": "Cutis laxa, autosomal recessive, 2E" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030337", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030338", "disease_id": "MONDO:0030338", "recommended_name": "anencephaly 2", "synonyms": [ { "id": "MONDO:0030338", "name": "ANPH2" }, { "id": "MONDO:0030338", "name": "anencephaly 2" }, { "id": "MIM:619452", "name": "Anencephaly 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030338", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030341", "disease_id": "MONDO:0030341", "recommended_name": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive", "synonyms": [ { "id": "MONDO:0030341", "name": "CMS7B" }, { "id": "MONDO:0030341", "name": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive" }, { "id": "MIM:619461", "name": "Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030341", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030346", "disease_id": "MONDO:0030346", "recommended_name": "ciliary dyskinesia, primary, 47, and lissencephaly", "synonyms": [ { "id": "MONDO:0030346", "name": "CILD47" }, { "id": "MONDO:0030346", "name": "ciliary dyskinesia, primary, 47, and lissencephaly" }, { "id": "MIM:619466", "name": "Ciliary dyskinesia, primary, 47, and lissencephaly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030346", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030353", "disease_id": "MONDO:0030353", "recommended_name": "Joubert syndrome 38", "synonyms": [ { "id": "MONDO:0030353", "name": "JBTS38" }, { "id": "MONDO:0030353", "name": "Joubert syndrome 38" }, { "id": "MIM:619476", "name": "Joubert syndrome 38" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030353", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030356", "disease_id": "MONDO:0030356", "recommended_name": "short-rib thoracic dysplasia 21 without polydactyly", "synonyms": [ { "id": "MONDO:0030356", "name": "SRTD21" }, { "id": "MONDO:0030356", "name": "short-rib thoracic dysplasia 21 without polydactyly" }, { "id": "MIM:619479", "name": "Short-rib thoracic dysplasia 21 without polydactyly" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030356", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030360", "disease_id": "MONDO:0030360", "recommended_name": "cholestasis, progressive familial intrahepatic, 6", "synonyms": [ { "id": "MONDO:0030360", "name": "PFIC6" }, { "id": "MONDO:0030360", "name": "cholestasis, progressive familial intrahepatic, 6" }, { "id": "MIM:619484", "name": "Cholestasis, progressive familial intrahepatic, 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030360", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030361", "disease_id": "MONDO:0030361", "recommended_name": "Aicardi-Goutieres syndrome 8", "synonyms": [ { "id": "MONDO:0030361", "name": "AGS8" }, { "id": "MONDO:0030361", "name": "Aicardi-Goutieres syndrome 8" }, { "id": "MIM:619486", "name": "Aicardi-Goutieres syndrome 8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030361", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030375", "disease_id": "MONDO:0030375", "recommended_name": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2", "synonyms": [ { "id": "MONDO:0030375", "name": "IMNEPD2" }, { "id": "MIM:619418", "name": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030375", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030376", "disease_id": "MONDO:0030376", "recommended_name": "Martsolf syndrome 2", "synonyms": [ { "id": "MONDO:0030376", "name": "MARTS2" }, { "id": "MIM:619420", "name": "Martsolf syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030376", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030397", "disease_id": "MONDO:0030397", "recommended_name": "portal hypertension, noncirrhotic, 2", "synonyms": [ { "id": "MONDO:0030397", "name": "NCPH2" }, { "id": "MIM:619463", "name": "Portal hypertension, non-cirrhotic, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030397", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030399", "disease_id": "MONDO:0030399", "recommended_name": "visceral neuropathy, familial, 2, autosomal recessive", "synonyms": [ { "id": "MONDO:0030399", "name": "VSCN2" }, { "id": "MIM:619465", "name": "Visceral neuropathy, familial, 2, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030399", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030433", "disease_id": "MONDO:0030433", "recommended_name": "Charcot-Marie-Tooth disease, axonal, type 2FF", "synonyms": [ { "id": "MONDO:0030433", "name": "CMT2FF" }, { "id": "MONDO:0030433", "name": "Charcot-Marie-Tooth neuropathy" }, { "id": "MIM:619519", "name": "Charcot-Marie-Tooth disease, axonal, type 2FF" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030433", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030434", "disease_id": "MONDO:0030434", "recommended_name": "epilepsy, idiopathic generalized, susceptibility to, 18", "synonyms": [ { "id": "MONDO:0030434", "name": "EIG18" }, { "id": "MIM:619521", "name": "Epilepsy, idiopathic generalized 18" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030434", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030454", "disease_id": "MONDO:0030454", "recommended_name": "Joubert syndrome 39", "synonyms": [ { "id": "MONDO:0030454", "name": "JBTS39" }, { "id": "MIM:619562", "name": "Joubert syndrome 39" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030454", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030458", "disease_id": "MONDO:0030458", "recommended_name": "Charcot-Marie-Tooth disease, axonal, Type 2HH", "synonyms": [ { "id": "MONDO:0030458", "name": "CMT2HH" }, { "id": "MIM:619574", "name": "Charcot-Marie-Tooth disease, axonal, type 2HH" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030458", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030462", "disease_id": "MONDO:0030462", "recommended_name": "Joubert syndrome 40", "synonyms": [ { "id": "MONDO:0030462", "name": "JBTS40" }, { "id": "MIM:619582", "name": "Joubert syndrome 40" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030462", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030465", "disease_id": "MONDO:0030465", "recommended_name": "cataract 49", "synonyms": [ { "id": "MONDO:0030465", "name": "CTRCT49" }, { "id": "MIM:619593", "name": "Cataract 49" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030465", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030471", "disease_id": "MONDO:0030471", "recommended_name": "Galloway-Mowat syndrome 9", "synonyms": [ { "id": "MONDO:0030471", "name": "GAMOS9" }, { "id": "MIM:619603", "name": "Galloway-Mowat syndrome 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030471", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0030476", "disease_id": "MONDO:0030476", "recommended_name": "Galloway-Mowat syndrome 10", "synonyms": [ { "id": "MONDO:0030476", "name": "GAMOS10" }, { "id": "MIM:619609", "name": "Galloway-Mowat syndrome 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030476", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0030487", "disease_id": "MONDO:0030487", "recommended_name": "spondylometaphyseal dysplasia, pagnamenta type", "synonyms": [ { "id": "MONDO:0030487", "name": "SMDP" }, { "id": "MIM:619638", "name": "Spondylometaphyseal dysplasia, Pagnamenta type" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030487", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030489", "disease_id": "MONDO:0030489", "recommended_name": "epidermolysis bullosa simplex 2A, generalized severe", "synonyms": [ { "id": "MONDO:0030489", "name": "EBS2A" }, { "id": "MIM:619555", "name": "Epidermolysis bullosa simplex 2A, generalized severe" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030489", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030490", "disease_id": "MONDO:0030490", "recommended_name": "oocyte maturation defect 11", "synonyms": [ { "id": "MONDO:0030490", "name": "OOMD11" }, { "id": "MIM:619643", "name": "Oocyte/zygote/embryo maturation arrest 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030490", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030503", "disease_id": "MONDO:0030503", "recommended_name": "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss", "synonyms": [ { "id": "MONDO:0030503", "name": "PFIC7" }, { "id": "MIM:619658", "name": "Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030503", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030505", "disease_id": "MONDO:0030505", "recommended_name": "cholestasis, progressive familial intrahepatic, 8", "synonyms": [ { "id": "MONDO:0030505", "name": "PFIC8" }, { "id": "MIM:619662", "name": "Cholestasis, progressive familial intrahepatic, 8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030505", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030523", "disease_id": "MONDO:0030523", "recommended_name": "oocyte maturation defect 12", "synonyms": [ { "id": "MONDO:0030523", "name": "OOMD12" }, { "id": "MIM:619697", "name": "Oocyte/zygote/embryo maturation arrest 12" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030523", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030525", "disease_id": "MONDO:0030525", "recommended_name": "epidermolysis bullosa simplex 2B, generalized intermediate", "synonyms": [ { "id": "MONDO:0030525", "name": "EBS2B" }, { "id": "MIM:619588", "name": "Epidermolysis bullosa simplex 2B, generalized intermediate" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030525", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030527", "disease_id": "MONDO:0030527", "recommended_name": "epidermolysis bullosa simplex 2C, localized", "synonyms": [ { "id": "MONDO:0030527", "name": "EBS2C" }, { "id": "MIM:619594", "name": "Epidermolysis bullosa simplex 2C, localized" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030527", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030534", "disease_id": "MONDO:0030534", "recommended_name": "hypogonadotropic hypogonadism 26 with or without anosmia", "synonyms": [ { "id": "MONDO:0030534", "name": "HH26" }, { "id": "MIM:619718", "name": "Hypogonadotropic hypogonadism 26 with or without anosmia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030534", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030535", "disease_id": "MONDO:0030535", "recommended_name": "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive", "synonyms": [ { "id": "MONDO:0030535", "name": "EBS2D" }, { "id": "MIM:619599", "name": "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030535", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030537", "disease_id": "MONDO:0030537", "recommended_name": "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction", "synonyms": [ { "id": "MONDO:0030537", "name": "CCHS2" }, { "id": "MONDO:0030537", "name": "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" }, { "id": "MIM:619482", "name": "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030537", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030539", "disease_id": "MONDO:0030539", "recommended_name": "central hypoventilation syndrome, congenital, 3", "synonyms": [ { "id": "MONDO:0030539", "name": "CCHS3" }, { "id": "MONDO:0030539", "name": "central hypoventilation syndrome, congenital, 3" }, { "id": "MIM:619483", "name": "Central hypoventilation syndrome, congenital, 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030539", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030625", "disease_id": "MONDO:0030625", "recommended_name": "dyskinesia with orofacial involvement, autosomal recessive", "synonyms": [ { "id": "MONDO:0030625", "name": "DSKOR" }, { "id": "MONDO:0030625", "name": "dyskinesia with orofacial involvement, autosomal recessive" }, { "id": "MIM:619647", "name": "Dyskinesia with orofacial involvement, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030625", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030634", "disease_id": "MONDO:0030634", "recommended_name": "leukoencephalopathy, hereditary diffuse, with spheroids 2", "synonyms": [ { "id": "MONDO:0030634", "name": "HDLS2" }, { "id": "MONDO:0030634", "name": "leukoencephalopathy, hereditary diffuse, with spheroids 2" }, { "id": "MONDO:0030634", "name": "leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA" }, { "id": "MIM:619661", "name": "Leukoencephalopathy, hereditary diffuse, with spheroids 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030634", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030669", "disease_id": "MONDO:0030669", "recommended_name": "gastrointestinal defects and immunodeficiency syndrome 2", "synonyms": [ { "id": "MONDO:0030669", "name": "GIDID2" }, { "id": "MONDO:0030669", "name": "gastrointestinal defects and immunodeficiency syndrome 2" }, { "id": "MONDO:0030669", "name": "multiple intestinal atresia with or without leukopenia" }, { "id": "MIM:619708", "name": "Gastrointestinal defects and immunodeficiency syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030669", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030676", "disease_id": "MONDO:0030676", "recommended_name": "parkinsonism-dystonia 3, childhood-onset", "synonyms": [ { "id": "MONDO:0030676", "name": "PKDYS3" }, { "id": "MONDO:0030676", "name": "parkinsonism-dystonia 3, childhood-onset" }, { "id": "MIM:619738", "name": "Parkinsonism-dystonia 3, childhood-onset" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030676", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030677", "disease_id": "MONDO:0030677", "recommended_name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1I", "synonyms": [ { "id": "MONDO:0030677", "name": "CMT1I" }, { "id": "MONDO:0030677", "name": "Charcot-Marie-Tooth disease neuropathy, IIA 1I" }, { "id": "MONDO:0030677", "name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" }, { "id": "MIM:619742", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1I" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030677", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030679", "disease_id": "MONDO:0030679", "recommended_name": "Noonan syndrome 14", "synonyms": [ { "id": "MONDO:0030679", "name": "NS14" }, { "id": "MONDO:0030679", "name": "Noonan syndrome 14" }, { "id": "MIM:619745", "name": "Noonan syndrome 14" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030679", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030684", "disease_id": "MONDO:0030684", "recommended_name": "hypogonadotropic hypogonadism 27 without anosmia", "synonyms": [ { "id": "MONDO:0030684", "name": "HH27" }, { "id": "MONDO:0030684", "name": "hypogonadotropic hypogonadism 27 without anosmia" }, { "id": "MIM:619755", "name": "Hypogonadotropic hypogonadism 27 without anosmia" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030684", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030689", "disease_id": "MONDO:0030689", "recommended_name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1H", "synonyms": [ { "id": "MONDO:0030689", "name": "CMT1H" }, { "id": "MONDO:0030689", "name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" }, { "id": "MONDO:0030689", "name": "Charcot-Marie-Tooth neuropathy, IIA 1H" }, { "id": "MONDO:0030689", "name": "hereditary motor and sensory neuropathy, 1h" }, { "id": "MONDO:0030689", "name": "neuropathy, hereditary, with or without age-related macular degeneration" }, { "id": "MIM:619764", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1H" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030689", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030690", "disease_id": "MONDO:0030690", "recommended_name": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6", "synonyms": [ { "id": "MONDO:0030690", "name": "PFBMFT6" }, { "id": "MONDO:0030690", "name": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6" }, { "id": "MIM:619767", "name": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030690", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030697", "disease_id": "MONDO:0030697", "recommended_name": "myopia 28, autosomal recessive", "synonyms": [ { "id": "MONDO:0030697", "name": "MYP28" }, { "id": "MONDO:0030697", "name": "myopia 28, autosomal recessive" }, { "id": "MIM:619781", "name": "Myopia 28, autosomal recessive" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030697", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030714", "disease_id": "MONDO:0030714", "recommended_name": "osteogenesis imperfecta, IIA 22", "synonyms": [ { "id": "MONDO:0030714", "name": "OI22" }, { "id": "MONDO:0030714", "name": "osteogenesis imperfecta, IIA 22" }, { "id": "MIM:619795", "name": "Osteogenesis imperfecta 22" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030714", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030726", "disease_id": "MONDO:0030726", "recommended_name": "neutropenia, severe congenital, 9, autosomal dominant", "synonyms": [ { "id": "MONDO:0030726", "name": "SCN9" }, { "id": "MONDO:0030726", "name": "neutropenia, severe congenital, 9, autosomal dominant" }, { "id": "MIM:619813", "name": "Neutropenia, severe congenital 9, autosomal dominant" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030726", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030729", "disease_id": "MONDO:0030729", "recommended_name": "Tessadori-van Haaften neurodevelopmental syndrome 1", "synonyms": [ { "id": "MONDO:0030729", "name": "TEVANED1" }, { "id": "MONDO:0030729", "name": "Tessadori-van Haaften neurodevelopmental syndrome 1" }, { "id": "MIM:619758", "name": "Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030729", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030730", "disease_id": "MONDO:0030730", "recommended_name": "Tessadori-van Haaften neurodevelopmental syndrome 2", "synonyms": [ { "id": "MONDO:0030730", "name": "TEVANED2" }, { "id": "MONDO:0030730", "name": "Tessadori-van Haaften neurodevelopmental syndrome 2" }, { "id": "MIM:619759", "name": "Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030730", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030731", "disease_id": "MONDO:0030731", "recommended_name": "aortic aneurysm, familial thoracic 12", "synonyms": [ { "id": "MONDO:0030731", "name": "AAT12" }, { "id": "MONDO:0030731", "name": "aortic aneurysm, familial thoracic 12" }, { "id": "MIM:619825", "name": "Aortic aneurysm, familial thoracic 12" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030731", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030746", "disease_id": "MONDO:0030746", "recommended_name": "epidermolysis bullosa, junctional 2A, intermediate", "synonyms": [ { "id": "MONDO:0030746", "name": "JEB2A" }, { "id": "MONDO:0030746", "name": "epidermolysis bullosa, junctional 2A, generalised intermediate" }, { "id": "MONDO:0030746", "name": "epidermolysis bullosa, junctional 2A, generalized intermediate" }, { "id": "MONDO:0030746", "name": "epidermolysis bullosa, junctional 2A, intermediate" }, { "id": "MONDO:0030746", "name": "epidermolysis bullosa, junctional 2A, non-herlitz IIA" }, { "id": "MIM:619783", "name": "Epidermolysis bullosa, junctional 2A, intermediate" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030746", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030747", "disease_id": "MONDO:0030747", "recommended_name": "epidermolysis bullosa, junctional 2B, severe", "synonyms": [ { "id": "MONDO:0030747", "name": "JEB2B" }, { "id": "MONDO:0030747", "name": "epidermolysis bullosa, junctional 2B, generalised severe" }, { "id": "MONDO:0030747", "name": "epidermolysis bullosa, junctional 2B, generalized severe" }, { "id": "MONDO:0030747", "name": "epidermolysis bullosa, junctional 2B, herlitz IIA" }, { "id": "MONDO:0030747", "name": "epidermolysis bullosa, junctional 2B, severe" }, { "id": "MIM:619784", "name": "Epidermolysis bullosa, junctional 2B, severe" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030747", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030748", "disease_id": "MONDO:0030748", "recommended_name": "epidermolysis bullosa, junctional 3A, intermediate", "synonyms": [ { "id": "MONDO:0030748", "name": "JEB3A" }, { "id": "MONDO:0030748", "name": "epidermolysis bullosa, junctional 3A, generalised intermediate" }, { "id": "MONDO:0030748", "name": "epidermolysis bullosa, junctional 3A, generalized intermediate" }, { "id": "MONDO:0030748", "name": "epidermolysis bullosa, junctional 3A, intermediate" }, { "id": "MONDO:0030748", "name": "epidermolysis bullosa, junctional 3A, non-herlitz IIA" }, { "id": "MIM:619785", "name": "Epidermolysis bullosa, junctional 3A, intermediate" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030748", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030749", "disease_id": "MONDO:0030749", "recommended_name": "epidermolysis bullosa, junctional 3B, severe", "synonyms": [ { "id": "MONDO:0030749", "name": "JEB3B" }, { "id": "MONDO:0030749", "name": "epidermolysis bullosa, junctional 3B, generalised severe" }, { "id": "MONDO:0030749", "name": "epidermolysis bullosa, junctional 3B, generalized severe" }, { "id": "MONDO:0030749", "name": "epidermolysis bullosa, junctional 3B, herlitz IIA" }, { "id": "MONDO:0030749", "name": "epidermolysis bullosa, junctional 3B, severe" }, { "id": "MIM:619786", "name": "Epidermolysis bullosa, junctional 3B, severe" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030749", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030750", "disease_id": "MONDO:0030750", "recommended_name": "epidermolysis bullosa, junctional 4, intermediate", "synonyms": [ { "id": "MONDO:0030750", "name": "JEB4" }, { "id": "MONDO:0030750", "name": "epidermolysis bullosa, generalised atrophic benign" }, { "id": "MONDO:0030750", "name": "epidermolysis bullosa, generalized atrophic benign" }, { "id": "MONDO:0030750", "name": "epidermolysis bullosa, junctional 4, intermediate" }, { "id": "MONDO:0030750", "name": "epidermolysis bullosa, junctional 4, non-herlitz IIA" }, { "id": "MONDO:0030750", "name": "epidermolysis bullosa, junctional, localisata variant" }, { "id": "MIM:619787", "name": "Epidermolysis bullosa, junctional 4, intermediate" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030750", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030756", "disease_id": "MONDO:0030756", "recommended_name": "Stuve-Wiedemann syndrome 2", "synonyms": [ { "id": "MONDO:0030756", "name": "STWS2" }, { "id": "MONDO:0030756", "name": "Stuve-Wiedemann syndrome 2" }, { "id": "MIM:619751", "name": "Stuve-Wiedemann syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030756", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030768", "disease_id": "MONDO:0030768", "recommended_name": "epidermolysis bullosa, junctional 5A, intermediate", "synonyms": [ { "id": "MONDO:0030768", "name": "JEB5A" }, { "id": "MONDO:0030768", "name": "epidermolysis bullosa, junctional 5A, generalised intermediate" }, { "id": "MONDO:0030768", "name": "epidermolysis bullosa, junctional 5A, generalized intermediate" }, { "id": "MONDO:0030768", "name": "epidermolysis bullosa, junctional 5A, intermediate" }, { "id": "MONDO:0030768", "name": "epidermolysis bullosa, junctional 5A, non-herlitz IIA" }, { "id": "MIM:619816", "name": "Epidermolysis bullosa, junctional 5A, intermediate" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030768", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030800", "disease_id": "MONDO:0030800", "recommended_name": "cholestasis, progressive familial intrahepatic, 9", "synonyms": [ { "id": "MONDO:0030800", "name": "PFIC9" }, { "id": "MONDO:0030800", "name": "cholestasis, progressive familial intrahepatic, 9" }, { "id": "MIM:619849", "name": "Cholestasis, progressive familial intrahepatic, 9" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030800", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030801", "disease_id": "MONDO:0030801", "recommended_name": "monosomy 7 myelodysplasia and leukemia syndrome 2", "synonyms": [ { "id": "MONDO:0030801", "name": "M7MLS2" }, { "id": "MONDO:0030801", "name": "monosomy 7 myelodysplasia and leukemia syndrome 2" }, { "id": "MIM:619041", "name": "Monosomy 7 myelodysplasia and leukemia syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030801", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030805", "disease_id": "MONDO:0030805", "recommended_name": "spinocerebellar ataxia 49", "synonyms": [ { "id": "MONDO:0030805", "name": "SCA49" }, { "id": "MONDO:0030805", "name": "spinocerebellar ataxia 49" }, { "id": "MIM:619806", "name": "Spinocerebellar ataxia 49" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030805", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030810", "disease_id": "MONDO:0030810", "recommended_name": "cholestasis, progressive familial intrahepatic, 10", "synonyms": [ { "id": "MONDO:0030810", "name": "PFIC10" }, { "id": "MONDO:0030810", "name": "cholestasis, progressive familial intrahepatic, 10" }, { "id": "MIM:619868", "name": "Cholestasis, progressive familial intrahepatic, 10" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030810", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030815", "disease_id": "MONDO:0030815", "recommended_name": "cholestasis, progressive familial intrahepatic, 11", "synonyms": [ { "id": "MONDO:0030815", "name": "PFIC11" }, { "id": "MONDO:0030815", "name": "cholestasis, progressive familial intrahepatic, 11" }, { "id": "MIM:619874", "name": "Cholestasis, progressive familial intrahepatic, 11" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030815", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030819", "disease_id": "MONDO:0030819", "recommended_name": "meckel syndrome 14", "synonyms": [ { "id": "MONDO:0030819", "name": "MKS14" }, { "id": "MONDO:0030819", "name": "meckel syndrome 14" }, { "id": "MIM:619879", "name": "Meckel syndrome 14" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030819", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "mondo.0030822", "disease_id": "MONDO:0030822", "recommended_name": "renal hypodysplasia/aplasia 4", "synonyms": [ { "id": "MONDO:0030822", "name": "RHDA4" }, { "id": "MONDO:0030822", "name": "renal hypodysplasia/aplasia 4" }, { "id": "MIM:619887", "name": "Renal hypodysplasia/aplasia 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030822", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030835", "disease_id": "MONDO:0030835", "recommended_name": "developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy", "synonyms": [ { "id": "MONDO:0030835", "name": "DIGFAN" }, { "id": "MIM:619090", "name": "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030835", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030837", "disease_id": "MONDO:0030837", "recommended_name": "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", "synonyms": [ { "id": "MONDO:0030837", "name": "NEDMILEG" }, { "id": "MONDO:0030837", "name": "NEDMILEG, AD" }, { "id": "MONDO:0030837", "name": "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" }, { "id": "MIM:619092", "name": "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030837", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030839", "disease_id": "MONDO:0030839", "recommended_name": "thyroid hormone metabolism, abnormal, 2", "synonyms": [ { "id": "MONDO:0030839", "name": "THMA2" }, { "id": "MONDO:0030839", "name": "thyroid hormone metabolism, abnormal, 2" }, { "id": "MIM:619855", "name": "Thyroid hormone metabolism, abnormal, 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030839", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030840", "disease_id": "MONDO:0030840", "recommended_name": "mismatch repair cancer syndrome 2", "synonyms": [ { "id": "MONDO:0030840", "name": "MMRCS2" }, { "id": "MONDO:0030840", "name": "MSH2-related constitutional mismatch repair deficiency syndrome" }, { "id": "MONDO:0030840", "name": "mismatch repair cancer syndrome 2" }, { "id": "MIM:619096", "name": "Mismatch repair cancer syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030840", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030841", "disease_id": "MONDO:0030841", "recommended_name": "mismatch repair cancer syndrome 3", "synonyms": [ { "id": "MONDO:0030841", "name": "MMRCS3" }, { "id": "MONDO:0030841", "name": "MSH6-related constitutional mismatch repair deficiency syndrome" }, { "id": "MONDO:0030841", "name": "mismatch repair cancer syndrome 3" }, { "id": "MIM:619097", "name": "Mismatch repair cancer syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030841", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030843", "disease_id": "MONDO:0030843", "recommended_name": "mismatch repair cancer syndrome 4", "synonyms": [ { "id": "MONDO:0030843", "name": "MMRCS4" }, { "id": "MONDO:0030843", "name": "PMS2-related constitutional mismatch repair deficiency syndrome" }, { "id": "MONDO:0030843", "name": "mismatch repair cancer syndrome 4" }, { "id": "MIM:619101", "name": "Mismatch repair cancer syndrome 4" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030843", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030849", "disease_id": "MONDO:0030849", "recommended_name": "intellectual developmental disorder with speech delay and axonal peripheral neuropathy", "synonyms": [ { "id": "MONDO:0030849", "name": "IDDSAPN" }, { "id": "MIM:619099", "name": "Intellectual developmental disorder with speech delay and axonal peripheral neuropathy" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030849", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030852", "disease_id": "MONDO:0030852", "recommended_name": "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities", "synonyms": [ { "id": "MONDO:0030852", "name": "NEDFASB" }, { "id": "MONDO:0030852", "name": "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" }, { "id": "MIM:619103", "name": "Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030852", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030854", "disease_id": "MONDO:0030854", "recommended_name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1", "synonyms": [ { "id": "MONDO:0030854", "name": "OIEDS Syndrome 1" }, { "id": "MONDO:0030854", "name": "OIEDS1" }, { "id": "MONDO:0030854", "name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" }, { "id": "MIM:619115", "name": "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030854", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030855", "disease_id": "MONDO:0030855", "recommended_name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2", "synonyms": [ { "id": "MONDO:0030855", "name": "OIEDS Syndrome 2" }, { "id": "MONDO:0030855", "name": "OIEDS2" }, { "id": "MONDO:0030855", "name": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" }, { "id": "MIM:619120", "name": "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030855", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030858", "disease_id": "MONDO:0030858", "recommended_name": "immunodeficiency 75", "synonyms": [ { "id": "MONDO:0030858", "name": "IMD75" }, { "id": "MONDO:0030858", "name": "immunodeficiency 75" }, { "id": "MIM:619126", "name": "Immunodeficiency 75 with lymphoproliferation" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030858", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030859", "disease_id": "MONDO:0030859", "recommended_name": "COACH syndrome 2", "synonyms": [ { "id": "MONDO:0030859", "name": "CC2D2A COACH syndrome 2" }, { "id": "MONDO:0030859", "name": "COACH2" }, { "id": "MIM:619111", "name": "COACH syndrome 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030859", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030862", "disease_id": "MONDO:0030862", "recommended_name": "COACH syndrome 3", "synonyms": [ { "id": "MONDO:0030862", "name": "COACH3" }, { "id": "MIM:619113", "name": "COACH syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030862", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030864", "disease_id": "MONDO:0030864", "recommended_name": "Ritscher-Schinzel syndrome 3", "synonyms": [ { "id": "MONDO:0030864", "name": "RTSC3" }, { "id": "MONDO:0030864", "name": "Ritscher-Schinzel syndrome 3" }, { "id": "MIM:619135", "name": "Ritscher-Schinzel syndrome 3" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030864", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030867", "disease_id": "MONDO:0030867", "recommended_name": "thrombocytopenia 7", "synonyms": [ { "id": "MONDO:0030867", "name": "THC7" }, { "id": "MONDO:0030867", "name": "Thrombocytopenia, Autosomal Dominant, 7" }, { "id": "MONDO:0030867", "name": "thrombocytopenia 7" }, { "id": "MIM:619130", "name": "Thrombocytopenia 7" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030867", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030872", "disease_id": "MONDO:0030872", "recommended_name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 8", "synonyms": [ { "id": "MONDO:0030872", "name": "FTDALS8" }, { "id": "MONDO:0030872", "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" }, { "id": "MIM:619132", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 8" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030872", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030873", "disease_id": "MONDO:0030873", "recommended_name": "cardiofacioneurodevelopmental syndrome", "synonyms": [ { "id": "MONDO:0030873", "name": "CFNDS" }, { "id": "MIM:619123", "name": "Cardiofacioneurodevelopmental syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030873", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030875", "disease_id": "MONDO:0030875", "recommended_name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 5", "synonyms": [ { "id": "MONDO:0030875", "name": "FTDALS5" }, { "id": "MONDO:0030875", "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 5" }, { "id": "MIM:619141", "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030875", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030876", "disease_id": "MONDO:0030876", "recommended_name": "cardioacrofacial dysplasia 1", "synonyms": [ { "id": "MONDO:0030876", "name": "CAFD1" }, { "id": "MONDO:0030876", "name": "cardioacrofacial dysplasia 1" }, { "id": "MIM:619142", "name": "Cardioacrofacial dysplasia 1" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030876", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030877", "disease_id": "MONDO:0030877", "recommended_name": "cardioacrofacial dysplasia 2", "synonyms": [ { "id": "MONDO:0030877", "name": "CAFD2" }, { "id": "MONDO:0030877", "name": "cardioacrofacial dysplasia 2" }, { "id": "MONDO:0030877", "name": "cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism" }, { "id": "MIM:619143", "name": "Cardioacrofacial dysplasia 2" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030877", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030878", "disease_id": "MONDO:0030878", "recommended_name": "Kaya-Barakat-Masson syndrome", "synonyms": [ { "id": "MONDO:0030878", "name": "KABAMAS" }, { "id": "MIM:619125", "name": "Kaya-Barakat-Masson syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030878", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030880", "disease_id": "MONDO:0030880", "recommended_name": "mandibuloacral dysplasia progeroid syndrome", "synonyms": [ { "id": "MONDO:0030880", "name": "MDPS" }, { "id": "MONDO:0030880", "name": "mandibuloacral dysplasia associated to MTX2" }, { "id": "MIM:619127", "name": "Mandibuloacral dysplasia progeroid syndrome" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030880", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030886", "disease_id": "MONDO:0030886", "recommended_name": "holoprosencephaly 14", "synonyms": [ { "id": "MONDO:0030886", "name": "HPE14" }, { "id": "MONDO:0030886", "name": "holoprosencephaly 14" }, { "id": "MIM:619895", "name": "Holoprosencephaly 14" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030886", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "mondo.0030890", "disease_id": "MONDO:0030890", "recommended_name": "pontocerebellar hypoplasia, IIA 17", "synonyms": [ { "id": "MONDO:0030890", "name": "PCH17" }, { "id": "MONDO:0030890", "name": "pontocerebellar hypoplasia, IIA 17" }, { "id": "MIM:619909", "name": "Pontocerebellar hypoplasia 17" } ], "record_url": "https://monarchinitiative.org/disease/MONDO:0030890", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" } ]