{ "title": "Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "1999", "authors": "Chapon F, Latour P, Diraison 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/uniprot/P25189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "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, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "1", "chr_pos": "161306785", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T124", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110200", "recommended_name": { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110200", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110200", "name": "CMTDID", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110200", "name": "DI-CMTD", "description": "" }, { "id": "DOID:0110200", "resource": "Disease Ontology", "url": "http://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": "Charcot-Marie-Tooth neuropathy dominant intermediate 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": "Charcot-Marie-Tooth neuropathy, dominant Intermediate 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-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" } ] }, { "disease_id": "DOID:0110152", "recommended_name": { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110152", "name": "CMT1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110152", "name": "Charcot-Marie-Tooth neuropathy type 1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110152", "name": "HMSN IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110152", "name": "HMSN1B", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110152", "name": "hereditary motor and sensory neuropathy IB", "description": "" }, { "id": "DOID:0110152", "resource": "Disease Ontology", "url": "http://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 slow nerve conduction type linked to Duffy", "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": "Charcot-Marie-Tooth neuropathy 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": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "hereditary motor and sensory neuropathy IB", "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, autosomal dominant, with focally folded myelin sheaths, 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": "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "Charcot-Marie-Tooth neuropathy, 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": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "hereditary motor and sensory neuropathy 1", "description": "" }, { "id": "MONDO:0007307", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007307", "name": "hereditary motor and sensory neuropathy 1B", "description": "" }, { "id": "MIM:118200", "resource": "MIM", "url": "https://www.omim.org/entry/118200", "name": "Charcot-Marie-Tooth disease, demyelinating, 1B", "description": "Charcot-Marie-Tooth disease, demyelinating, 1B" } ] }, { "disease_id": "DOID:0110158", "recommended_name": { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110158", "name": "CMT2I", "description": "" }, { "id": "DOID:0110158", "resource": "Disease Ontology", "url": "http://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": "Charcot-Marie-Tooth neuropathy 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": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "Charcot-Marie-Tooth neuropathy, type 2I", "description": "" }, { "id": "MONDO:0011889", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011889", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2I", "description": "" }, { "id": "MIM:607677", "resource": "MIM", "url": "https://www.omim.org/entry/607677", "name": "Charcot-Marie-Tooth disease, axonal, 2I", "description": "Charcot-Marie-Tooth disease, axonal, 2I" } ] }, { "disease_id": "DOID:0110157", "recommended_name": { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110157", "name": "CMT2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110157", "name": "Charcot-Marie-Tooth neuropathy type 2J", "description": "" }, { "id": "DOID:0110157", "resource": "Disease Ontology", "url": "http://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 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": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "Charcot-Marie-Tooth neuropathy 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": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "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 neuropathy, type 2J", "description": "" }, { "id": "MONDO:0011903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011903", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2J", "description": "" }, { "id": "MIM:607736", "resource": "MIM", "url": "https://www.omim.org/entry/607736", "name": "Charcot-Marie-Tooth disease, axonal, 2J", "description": "Charcot-Marie-Tooth disease, axonal, 2J" } ] }, { "disease_id": "DOID:0110195", "recommended_name": { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth disease type 4E", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23." }, "synonyms": [ { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110195", "name": "CMT4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110195", "name": "Charcot-Marie-Tooth neuropathy type 4E", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110195", "name": "Neuropathy, congenital hypomyelinating, 1", "description": "" }, { "id": "DOID:0110195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110195", "name": "autosomal recessive congenital hypomyelinating or amyelinating 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": "Charcot-Marie-Tooth neuropathy 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": "autosomal recessive congenital hypomyelinating or amyelinating 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": "neuropathy, congenital hypomyelinating, 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": "Charcot-Marie-Tooth disease, type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "Charcot-Marie-Tooth neuropathy, type 4E", "description": "" }, { "id": "MONDO:0011527", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011527", "name": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE", "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": 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