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"title": "UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia.", "journal": "Leukemia", "date": "2023-04-21", "authors": "Duployez Nicolas, Vasseur Lo\u00efc, Kim Rathana, Largeaud La\u00ebtitia, Passet Marie, L'Haridon Ana\u00efs, Lemaire Pierre, Fenwarth Laur\u00e8ne, Geffroy Sandrine, Helevaut Nathalie, Celli-Lebras Karine, Ad\u00e8s Lionel, Lebon Delphine, Berthon C\u00e9line, Marceau-Renaut Alice, Cheok Meyling, Lambert Juliette, R\u00e9cher Christian, Raffoux Emmanuel, Micol Jean-Baptiste, Pigneux Arnaud, Gardin Claude, Delabesse Eric, Soulier Jean, Hunault Mathilde, Dombret Herv\u00e9, Itzykson Raphael, Clappier Emmanuelle, Preudhomme Claude", "reference": { "type": "PubMed", "id": "37085611", "url": "https://pubmed.ncbi.nlm.nih.gov/37085611" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P17480-1", "protein_name": "Nucleolar transcription factor 1", "gene_name": "UBTF", "tax_name": "Human" } ], "species": 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[] } ] }, { "title": "Sequence and structure of the human OXA1L gene and its upstream elements.", "journal": "Biochim. Biophys. Acta", "date": "1997", "authors": "Rotig A, Parfait B, Heidet L, Dujardin G, Rustin P, Munnich A", "reference": { "type": "PubMed", "id": "9247084", "url": "https://pubmed.ncbi.nlm.nih.gov/9247084" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15070-1", "protein_name": "Mitochondrial inner membrane protein OXA1L", "gene_name": "OXA1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15070", "url": "https://www.uniprot.org/uniprotkb/Q15070" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9247084", "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" ] }, { 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot Marie Tooth disease type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "Charcot-Marie-Tooth disease, axonal, type 2I" } ], "unlinked_id_list": [], "evidence": [ { "id": "607677", "database": "MIM", "url": "https://www.omim.org/entry/607677" }, { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2J", "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "CMT2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth neuropathy type 2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease type 2J", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot Marie Tooth disease type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "" }, { "id": "MIM:607736", "resource": "MIM", "url": "https://www.omim.org/entry/607736", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "Charcot-Marie-Tooth disease, axonal, type 2J" } ], "unlinked_id_list": [], "evidence": [ { "id": "607736", "database": "MIM", "url": "https://www.omim.org/entry/607736" }, { "id": "0110157", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110157" } ] }, { "disease_id": "DOID:0110195", "recommended_name": { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "congenital hypomyelinating neuropathy 1", "description": "A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21." }, "synonyms": [ { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CMT4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth neuropathy type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Neuropathy, congenital hypomyelinating, 1", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or 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no evidence of demyelination." }, "synonyms": [ { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "CHN", "description": "" }, { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot 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P, Schaeffer S, Vandenberghe A", "reference": { "type": "PubMed", "id": "10329755", "url": "https://pubmed.ncbi.nlm.nih.gov/10329755" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P25189", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P25189" }, { "id": "rs121913595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913595" }, { "id": "rs121913595", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913595" }, { "id": "10071056", "database": "PubMed", "url": 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"minor_allelic_frequency": "", "site_lbl": "T124", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot Marie Tooth disease type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "Charcot-Marie-Tooth disease, axonal, type 2I" } ], "unlinked_id_list": [], "evidence": [ { "id": "607677", "database": "MIM", "url": "https://www.omim.org/entry/607677" }, { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": 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hereditary motor and sensory neuropathy.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "1999", "authors": "Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG", "reference": { "type": "PubMed", "id": "10406984", "url": "https://pubmed.ncbi.nlm.nih.gov/10406984" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10406984", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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"referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10545037", "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": 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"Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schroder JM", "reference": { "type": "PubMed", "id": "10764043", "url": "https://pubmed.ncbi.nlm.nih.gov/10764043" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P25189", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P25189" }, { "id": "rs121913595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913595" }, { "id": "rs121913595", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913595" }, { "id": "10071056", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10071056" }, { "id": "10329755", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10329755" }, { "id": "10764043", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10764043" }, { "id": "11080237", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11080237" }, { "id": "15159512", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15159512" }, { "id": "16775239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16775239" }, { "id": "9452091", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9452091" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "1", "chr_pos": "161306785", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T124", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot Marie Tooth disease type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "Charcot-Marie-Tooth disease, axonal, type 2I" } ], "unlinked_id_list": [], "evidence": [ { "id": "607677", "database": "MIM", "url": "https://www.omim.org/entry/607677" }, { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2J", "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "CMT2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth neuropathy type 2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease type 2J", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot Marie Tooth disease type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "" }, { "id": "MIM:607736", "resource": "MIM", "url": "https://www.omim.org/entry/607736", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "Charcot-Marie-Tooth disease, axonal, type 2J" } ], "unlinked_id_list": [], "evidence": [ { "id": "607736", "database": "MIM", "url": "https://www.omim.org/entry/607736" }, { "id": "0110157", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110157" } ] }, { "disease_id": "DOID:0110195", "recommended_name": { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "congenital hypomyelinating neuropathy 1", "description": "A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21." }, "synonyms": [ { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CMT4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth neuropathy type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Neuropathy, congenital hypomyelinating, 1", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive", "description": "" }, { "id": "MIM:605253", "resource": "MIM", "url": "https://www.omim.org/entry/605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "605253", "database": "MIM", "url": "https://www.omim.org/entry/605253" }, { "id": "0110195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110195" } ] }, { "disease_id": "DOID:0070678", "recommended_name": { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelinating neuropathy", "description": "A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination." }, "synonyms": [ { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "CHN", "description": "" }, { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive", "description": "" }, { "id": "MIM:605253", "resource": "MIM", "url": "https://www.omim.org/entry/605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "605253", "database": "MIM", "url": "https://www.omim.org/entry/605253" } ] }, { "disease_id": "DOID:0050540", "recommended_name": { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050540", "name": "Charcot-Marie-Tooth disease type 3", "description": "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination." }, "synonyms": [ { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050540", "name": "DEJERINE-SOTTAS NEUROPATHY", "description": "" }, { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050540", "name": "DEJERINE-SOTTAS SYNDROME", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Charcot-Marie-Tooth disease type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "CMT3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Charcot-Marie-Tooth disease type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Charcot-Marie-Tooth disease, type 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Dejerine-Sottas Syndrome", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Dejerine-Sottas neuropathy", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "Dejerine-Sottas syndrome", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "HMSN 3", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007790", "name": "HMSN III", "description": "" }, { "id": "MONDO:0007790", "resource": "MONDO", "url": 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"ebi", "germline" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.11.000.011", "uniprot_canonical_ac": "P25189-1" } ], "record_id": "pubmed.10764043", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.", "journal": "Acta neuropathologica", "date": "2000", "authors": "Fabrizi GM, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N", "reference": { "type": "PubMed", "id": "10965800", "url": "https://pubmed.ncbi.nlm.nih.gov/10965800" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10965800", "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": "An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "2000", "authors": "Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G", "reference": { "type": "PubMed", "id": "11080237", "url": "https://pubmed.ncbi.nlm.nih.gov/11080237" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P25189", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P25189" }, { "id": "rs121913595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913595" }, { "id": "rs121913595", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913595" }, { "id": "10071056", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10071056" }, { "id": "10329755", "database": "PubMed", "url": 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"id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot Marie Tooth disease type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "Charcot-Marie-Tooth disease, axonal, type 2I" } ], "unlinked_id_list": [], "evidence": [ { "id": "607677", "database": "MIM", "url": "https://www.omim.org/entry/607677" }, { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2J", "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "CMT2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth neuropathy type 2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease type 2J", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot Marie Tooth disease type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "" }, { "id": "MIM:607736", "resource": "MIM", "url": "https://www.omim.org/entry/607736", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "Charcot-Marie-Tooth disease, axonal, type 2J" } ], "unlinked_id_list": [], "evidence": [ { "id": "607736", "database": "MIM", "url": "https://www.omim.org/entry/607736" }, { "id": "0110157", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110157" } ] }, { "disease_id": "DOID:0110195", "recommended_name": { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "congenital hypomyelinating neuropathy 1", "description": "A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21." }, "synonyms": [ { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CMT4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth neuropathy type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Neuropathy, congenital hypomyelinating, 1", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive", "description": "" }, { "id": "MIM:605253", "resource": "MIM", "url": "https://www.omim.org/entry/605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "605253", "database": "MIM", "url": "https://www.omim.org/entry/605253" }, { "id": "0110195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110195" } ] }, { "disease_id": "DOID:0070678", "recommended_name": { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelinating neuropathy", "description": "A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination." }, "synonyms": [ { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "CHN", "description": "" }, { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive", "description": "" }, { "id": "MIM:605253", "resource": "MIM", "url": "https://www.omim.org/entry/605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "605253", "database": "MIM", "url": "https://www.omim.org/entry/605253" } ] }, { "disease_id": "DOID:0050540", "recommended_name": { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050540", "name": "Charcot-Marie-Tooth disease type 3", "description": "A Charcot-Marie-Tooth disease that is characterized by motor 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Baloh RW", "reference": { "type": "PubMed", "id": "15159512", "url": "https://pubmed.ncbi.nlm.nih.gov/15159512" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P25189", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P25189" }, { "id": "rs121913595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913595" }, { "id": "rs121913595", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913595" }, { "id": "10071056", "database": "PubMed", "url": 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"minor_allelic_frequency": "", "site_lbl": "T124", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot Marie Tooth disease type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "Charcot-Marie-Tooth disease, axonal, type 2I" } ], "unlinked_id_list": [], "evidence": [ { "id": "607677", "database": "MIM", "url": "https://www.omim.org/entry/607677" }, { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2J", "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "CMT2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth neuropathy type 2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease type 2J", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.", "journal": "Human molecular genetics", "date": "1993", "authors": "Hayasaka K, Takada G, Ionasescu VV", "reference": { "type": "PubMed", "id": "7694726", "url": "https://pubmed.ncbi.nlm.nih.gov/7694726" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7694726", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"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": "Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.", "journal": "Human mutation", "date": "1996", "authors": "Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR", "reference": { "type": "PubMed", "id": "8664899", "url": "https://pubmed.ncbi.nlm.nih.gov/8664899" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8664899", "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": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.", "journal": "Neuron", "date": "1996", "authors": "Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR", "reference": { "type": "PubMed", "id": "8816708", "url": "https://pubmed.ncbi.nlm.nih.gov/8816708" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", 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"field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.", "journal": "Human mutation", "date": "1997", "authors": "Warner LE, Shohat M, Shorer Z, Lupski JR", "reference": { "type": "PubMed", "id": "9222756", "url": "https://pubmed.ncbi.nlm.nih.gov/9222756" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9222756", "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": "De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.", "journal": "Human mutation", "date": "1998", "authors": "Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K", "reference": { "type": "PubMed", "id": "9452055", "url": "https://pubmed.ncbi.nlm.nih.gov/9452055" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9452055", "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": "Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.", "journal": "Human mutation", "date": "1998", "authors": "Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML", "reference": { "type": "PubMed", "id": "9452091", "url": "https://pubmed.ncbi.nlm.nih.gov/9452091" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P25189", "url": "https://www.uniprot.org/uniprotkb/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P25189", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P25189" }, { "id": "rs121913595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913595" }, { "id": "rs121913595", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121913595" }, { "id": "10071056", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10071056" }, { "id": "10329755", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10329755" }, { "id": "10764043", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10764043" }, { "id": "11080237", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11080237" }, { "id": "15159512", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15159512" }, { "id": "16775239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16775239" }, { "id": "9452091", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9452091" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "1", "chr_pos": "161306785", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T124", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110200", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate D", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "CMTDID", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease dominant intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "DI-CMTD", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot Marie Tooth disease dominant intermediate 3", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "" }, { "id": "MONDO:0011909", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011909", "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MIM:607791", "resource": "MIM", "url": "https://www.omim.org/entry/607791", "name": "Charcot-Marie-Tooth disease, dominant intermediate D", "description": "Charcot-Marie-Tooth disease, dominant intermediate D" } ], "unlinked_id_list": [], "evidence": [ { "id": "607791", "database": "MIM", "url": "https://www.omim.org/entry/607791" }, { "id": "0110200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110200" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)." }, "synonyms": [ { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110152", "name": "peroneal muscular atrophy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1B", "description": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN IB", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "MPZ Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "CMT 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot Marie Tooth disease type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "HMSN1", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "118200", "database": "MIM", "url": "https://www.omim.org/entry/118200" }, { "id": "0110152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110152" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth disease type 2I", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110158", "name": "Charcot-Marie-Tooth neuropathy type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease type 2I", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "CMT 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot Marie Tooth disease type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, type 2I", "description": "Charcot-Marie-Tooth disease, axonal, type 2I" } ], "unlinked_id_list": [], "evidence": [ { "id": "607677", "database": "MIM", "url": "https://www.omim.org/entry/607677" }, { "id": "0110158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110158" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2J", "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "CMT2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth neuropathy type 2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease type 2J", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "CMT 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot Marie Tooth disease type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "" }, { "id": "MIM:607736", "resource": "MIM", "url": "https://www.omim.org/entry/607736", "name": "Charcot-Marie-Tooth disease, axonal, type 2J", "description": "Charcot-Marie-Tooth disease, axonal, type 2J" } ], "unlinked_id_list": [], "evidence": [ { "id": "607736", "database": "MIM", "url": "https://www.omim.org/entry/607736" }, { "id": "0110157", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110157" } ] }, { "disease_id": "DOID:0110195", "recommended_name": { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "congenital hypomyelinating neuropathy 1", "description": "A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21." }, "synonyms": [ { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CMT4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth neuropathy type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Neuropathy, congenital hypomyelinating, 1", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110195", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive", "description": "" }, { "id": "MIM:605253", "resource": "MIM", "url": "https://www.omim.org/entry/605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "605253", "database": "MIM", "url": "https://www.omim.org/entry/605253" }, { "id": "0110195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110195" } ] }, { "disease_id": "DOID:0070678", "recommended_name": { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelinating neuropathy", "description": "A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination." }, "synonyms": [ { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "CHN", "description": "" }, { "id": "DOID:0070678", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070678", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CHN1", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "CMT 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "congenital hypomyelination neuropathy", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive", "description": "" }, { "id": "MIM:605253", "resource": "MIM", "url": "https://www.omim.org/entry/605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive", "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "unlinked_id_list": [], "evidence": [ { "id": "605253", "database": "MIM", "url": "https://www.omim.org/entry/605253" } ] }, { "disease_id": "DOID:0050540", "recommended_name": { "id": "DOID:0050540", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050540", "name": "Charcot-Marie-Tooth disease type 3", "description": "A Charcot-Marie-Tooth disease that is characterized by motor 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