[ { "title": "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.", "journal": "Clinical genetics", "date": "1999", "authors": "Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y", "reference": { "type": "PubMed", "id": "10066032", "url": "https://pubmed.ncbi.nlm.nih.gov/10066032" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15305-1", "protein_name": "Phosphomannomutase 2", "gene_name": "PMM2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprotkb/O15305" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10066032", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).", "journal": "Mol. Genet. Metab.", "date": "1999", "authors": "Matthijs G, Schollen E, Heykants L, Gr\u00fcnewald S", "reference": { "type": "PubMed", "id": "10527672", "url": "https://pubmed.ncbi.nlm.nih.gov/10527672" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15305-1", "protein_name": "Phosphomannomutase 2", "gene_name": "PMM2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprotkb/O15305" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "O15305", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15305" }, { "id": "rs28936415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415" }, { "id": "rs28936415", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415" }, { "id": "rs28936415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415" }, { "id": "rs28936415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28936415#frequency_tab" }, { "id": "rs28936415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28936415" }, { "id": "10527672", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10527672" }, { "id": "10854097", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10854097" }, { "id": "10922383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10922383" }, { "id": "11916319", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11916319" }, { "id": "17166182", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17166182" }, { "id": "9140401", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9140401" }, { "id": "9781039", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9781039" }, { "id": "rs28936415", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415" } ], "glycoeffect": [], "start_pos": 141, "end_pos": 141, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).", "chr_id": "16", "chr_pos": "8811153", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0070339", "recommended_name": { "id": "DOID:0070339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "synonyms": [ { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "isolated cerebellar hypoplasia/agenesis", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. 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"DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0070339", "recommended_name": { "id": "DOID:0070339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "synonyms": [ { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "isolated cerebellar hypoplasia/agenesis", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "O15305-1" }, { "evidence": [ { "id": "O15305", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15305" }, { "id": "rs28936415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415" }, { "id": "rs28936415", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415" }, { "id": "rs28936415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415" }, { "id": "rs28936415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28936415#frequency_tab" }, { "id": "rs28936415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28936415" }, { "id": "10527672", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10527672" }, { "id": "10854097", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10854097" }, { "id": "10922383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10922383" }, { "id": "11916319", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11916319" }, { "id": "17166182", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17166182" }, { "id": "9140401", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9140401" }, { "id": "9781039", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9781039" }, { "id": "rs28936415", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415" } ], "glycoeffect": [], "start_pos": 141, "end_pos": 141, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).", "chr_id": "16", "chr_pos": "8811153", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0070339", "recommended_name": { "id": "DOID:0070339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "synonyms": [ { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "isolated cerebellar hypoplasia/agenesis", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, 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Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. 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The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.", "journal": "Molecular genetics and metabolism", "date": "2001", "authors": "Westphal V, Enns GM, McCracken MF, Freeze HH", "reference": { "type": "PubMed", "id": "11350185", "url": "https://pubmed.ncbi.nlm.nih.gov/11350185" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15305-1", "protein_name": "Phosphomannomutase 2", "gene_name": "PMM2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15305", "url": "https://www.uniprot.org/uniprotkb/O15305" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11350185", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "O15305-1" }, { "evidence": [ { "id": "O15305", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15305" }, { "id": "rs28936415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415" }, { "id": "rs28936415", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415" }, { "id": "rs28936415", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415" }, { "id": "rs28936415", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28936415#frequency_tab" }, { "id": "rs28936415", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28936415" }, { "id": "10527672", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10527672" }, { "id": "10854097", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10854097" }, { "id": "10922383", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10922383" }, { "id": "11916319", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11916319" }, { "id": "17166182", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17166182" }, { "id": "9140401", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9140401" }, { "id": "9781039", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9781039" }, { "id": "rs28936415", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415" } ], "glycoeffect": [], "start_pos": 141, "end_pos": 141, "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).", "chr_id": "16", "chr_pos": "8811153", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0070339", "recommended_name": { "id": "DOID:0070339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "synonyms": [ { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "isolated cerebellar hypoplasia/agenesis", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. 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"0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).", "chr_id": "16", "chr_pos": "8811153", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0070339", "recommended_name": { "id": "DOID:0070339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "synonyms": [ { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "isolated cerebellar hypoplasia/agenesis", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. 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"description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0070339", "recommended_name": { "id": "DOID:0070339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." }, "synonyms": [ { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "isolated cerebellar hypoplasia/agenesis", "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Cerebellar Agenesis", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari 4 malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "Chiari IV malformation", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "congenital cerebellar Hypoplasia", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "near total absence of cerebellum", "description": "" }, { "id": "MONDO:0008939", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008939", "name": "subtotal absence of cerebellum", "description": "" }, { "id": "MIM:213000", "resource": "MIM", "url": "https://www.omim.org/entry/213000", "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" }, { "id": "0070339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070339" } ] }, { "disease_id": "DOID:0050570", "recommended_name": { "id": "DOID:0050570", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." }, "synonyms": [ { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ] }, { "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. 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[] } ] }, { "title": "APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin.", "journal": "Cell reports", "date": "2020", "authors": "Uzureau S, Lecordier L, Uzureau P, Hennig D, Graversen JH, Homble F, Mfutu PE, Oliveira Arcolino F, Ramos AR, La Rovere RM, Luyten T, Vermeersch M, Tebabi P, Dieu M, Cuypers B, Deborggraeve S, Rabant M, Legendre C, Moestrup SK, Levtchenko E, Bultynck G, Erneux C, Perez-Morga D, Pays E", "reference": { "type": "PubMed", "id": "32187552", "url": "https://pubmed.ncbi.nlm.nih.gov/32187552" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95236-1", "protein_name": "Apolipoprotein L3", "gene_name": "APOL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95236", "url": "https://www.uniprot.org/uniprotkb/O95236" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens 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