{ "disease_id": "DOID:0050539", "recommended_name": { "id": "DOID:0050539", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050539", "name": "Charcot-Marie-Tooth disease type 2", "description": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." }, "synonyms": [ { "id": "DOID:0050539", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050539", "name": "hereditary motor and sensory neuropathy type 2", "description": "" }, { "id": "DOID:0050539", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050539", "name": "hereditary motor and sensory neuropathy Okinawa type", "description": "" }, { "id": "DOID:0050539", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050539", "name": "hereditary motor and sensory neuropathy Guadalajara neuronal type", "description": "" }, { "id": "MONDO:0007310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007310", "name": "Charcot-Marie-Tooth disease, Guadalajara neuronal type", "description": "" }, { "id": "MONDO:0007310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007310", "name": "Charcot-Marie-Tooth disease, Guadalajara neuronal type", "description": "" }, { "id": "MONDO:0011468", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011468", "name": "hereditary motor and sensory neuropathy, Okinawa type", "description": "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." }, { "id": "MONDO:0011468", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011468", "name": "HMSNP", "description": "" }, { "id": "MONDO:0011468", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011468", "name": "hereditary motor and sensory neuropathy, proximal type", "description": "" }, { "id": "MONDO:0011468", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011468", "name": "HMSNO", "description": "" }, { "id": "MONDO:0011468", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011468", "name": "neuropathy, hereditary motor and sensory, Okinawa type", "description": "" }, { "id": "MIM:604484", "resource": "MIM", "url": "https://www.omim.org/entry/604484", "name": "Neuropathy, hereditary motor and sensory, Okinawa type", "description": "Neuropathy, hereditary motor and sensory, Okinawa type" } ], "children": [ { "id": "DOID:0051043", "label": "Charcot-Marie-Tooth disease axonal type 2JJ", "link_status": true, "children": [] }, { "id": "DOID:0061251", "label": "Charcot-Marie-Tooth disease type 2KK", "link_status": true, "children": [] }, { "id": "DOID:0110154", "label": "Charcot-Marie-Tooth disease type 2A1", "link_status": true, "children": [] }, { "id": "DOID:0110155", "label": "Charcot-Marie-Tooth disease type 2A2A", "link_status": true, "children": [] }, { "id": "DOID:0110156", "label": "Charcot-Marie-Tooth disease type 2B1", "link_status": true, "children": [] }, { "id": "DOID:0110157", "label": "Charcot-Marie-Tooth disease type 2J", "link_status": true, "children": [] }, { "id": "DOID:0110158", "label": "Charcot-Marie-Tooth disease type 2I", "link_status": true, "children": [] }, { "id": "DOID:0110159", "label": "Charcot-Marie-Tooth disease type 2B", "link_status": true, "children": [] }, { "id": "DOID:0110160", "label": "Charcot-Marie-Tooth disease axonal type 2T", "link_status": true, "children": [] }, { "id": "DOID:0110161", "label": "Charcot-Marie-Tooth disease type 2R", "link_status": true, "children": [] }, { "id": "DOID:0110162", "label": "Charcot-Marie-Tooth disease, axonal type 2W", "link_status": true, "children": [] }, { "id": "DOID:0110163", "label": "Charcot-Marie-Tooth disease axonal type 2F", "link_status": true, "children": [] }, { "id": "DOID:0110164", "label": "Charcot-Marie-Tooth disease type 2D", "link_status": true, "children": [] }, { "id": "DOID:0110165", "label": "Charcot-Marie-Tooth disease type 2E", "link_status": true, "children": [] }, { "id": "DOID:0110167", "label": "Charcot-Marie-Tooth disease axonal type 2K", "link_status": true, "children": [] }, { "id": "DOID:0110168", "label": "Charcot-Marie-Tooth disease type 2Y", "link_status": true, "children": [] }, { "id": "DOID:0110169", "label": "Charcot-Marie-Tooth disease axonal type 2P", "link_status": true, "children": [] }, { "id": "DOID:0110170", "label": "Charcot-Marie-Tooth disease axonal type 2Q", "link_status": true, "children": [] }, { "id": "DOID:0110171", "label": "Charcot-Marie-Tooth disease axonal type 2S", "link_status": true, "children": [] }, { "id": "DOID:0110173", "label": "Charcot-Marie-Tooth disease axonal type 2U", "link_status": true, "children": [] }, { "id": "DOID:0110174", "label": "Charcot-Marie-Tooth disease axonal type 2L", "link_status": true, "children": [] }, { "id": "DOID:0110175", "label": "Charcot-Marie-Tooth disease axonal type 2O", "link_status": true, "children": [] }, { "id": "DOID:0110176", "label": "Charcot-Marie-Tooth disease axonal type 2X", "link_status": true, "children": [] }, { "id": "DOID:0110177", "label": "Charcot-Marie-Tooth disease axonal type 2N", "link_status": true, "children": [] }, { "id": "DOID:0110178", "label": "Charcot-Marie-Tooth disease axonal type 2V", "link_status": true, "children": [] }, { "id": "DOID:0110179", "label": "Charcot-Marie-Tooth disease type 2B2", "link_status": true, "children": [] }, { "id": "DOID:0110180", "label": "Charcot-Marie-Tooth disease axonal type 2CC", "link_status": true, "children": [] }, { "id": "DOID:0110181", "label": "Charcot-Marie-Tooth disease axonal type 2Z", "link_status": true, "children": [] }, { "id": "DOID:0110182", "label": "Charcot-Marie-Tooth disease axonal type 2C", "link_status": true, "children": [] }, { "id": "DOID:0111557", "label": "Charcot-Marie-Tooth disease type 2A2B", "link_status": true, "children": [] }, { "id": "DOID:0111558", "label": "Charcot-Marie-Tooth disease type 2DD", "link_status": true, "children": [] }, { "id": "DOID:0111559", "label": "Charcot-Marie-Tooth disease type 2EE", "link_status": true, "children": [] } ], "id_list": [ "DOID:0061251", "DOID:0110158", "DOID:0111558", "DOID:0110182", "DOID:0110164", "DOID:0110175", "DOID:0110157", "DOID:0110174", "DOID:0050539", "DOID:0110181", "DOID:0110178", "DOID:0110160", "DOID:0110180", "DOID:0110170", 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"reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein inscuteable homolog", "type": "recommended" }, { "name": "Minsc", "type": "synonym" }, { "name": "minsc", "type": "synonym" }, { "name": "protein inscuteable homolog isoform 2", "type": "synonym" }, { "name": "protein inscuteable homolog", "type": "synonym" } ], "gene_names": [ { "name": "Insc", "type": "recommended" }, { "name": "3830422K02Rik", "type": "synonym" }, { "name": "C730020D23", "type": "synonym" }, { "name": "Insc", "type": "synonym" } ], "record_id": "Q3HNM7-1", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ] }, { "uniprot_canonical_ac": "Q80U63-1", "uniprot_ac": "Q80U63", "uniprot_id": "MFN2_MOUSE", "refseq_ac": "NP_001272849", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitofusin-2", "type": "recommended" }, { "name": "3.6.5.-", "type": "synonym" }, { "name": "HSG protein", "type": "synonym" }, { "name": "Hypertension-related protein 1", "type": "synonym" }, { "name": "Mitochondrial assembly regulatory factor", "type": "synonym" }, { "name": "Transmembrane GTPase MFN2", "type": "synonym" }, { "name": "hypertension related protein 1", "type": "synonym" }, { "name": "mitochondrial assembly regulatory factor", "type": "synonym" }, { "name": "mitofusin-2", "type": "synonym" }, { "name": "transmembrane GTPase MFN2", "type": "synonym" } ], "gene_names": [ { "name": "Mfn2", "type": "recommended" }, { "name": "D630023P19Rik", "type": "synonym" }, { "name": "Fzo", "type": "synonym" }, { "name": "Kiaa0214", "type": "synonym" }, { "name": "Marf", "type": "synonym" }, { "name": "Mfn2", "type": "synonym" } ], "record_id": "Q80U63-1", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ] }, { 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"https://www.alliancegenome.org/disease/DOID:0050539" } ] }, { "uniprot_canonical_ac": "Q92734-1", "uniprot_ac": "Q92734", "uniprot_id": "TFG_HUMAN", "refseq_ac": "NP_001007566", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein TFG", "type": "recommended" }, { "name": "TRK-fused gene protein", "type": "synonym" }, { "name": "TRKT3 oncogene", "type": "synonym" }, { "name": "protein TFG isoform 1", "type": "synonym" }, { "name": "protein TFG", "type": "synonym" } ], "gene_names": [ { "name": "TFG", "type": "recommended" }, { "name": "HMSNP", "type": "synonym" }, { "name": "SPG57", "type": "synonym" }, { "name": "TF6", "type": "synonym" }, { "name": "TFG", "type": "synonym" }, { "name": "TRKT3", "type": "synonym" } ], "record_id": "Q92734-1", "evidence": [ { "id": "604484", "database": "MIM", "url": 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"name": "KIAA0214", "type": "synonym" }, { "name": "MARF", "type": "synonym" }, { "name": "MFN2", "type": "synonym" }, { "name": "MSL", "type": "synonym" } ], "record_id": "O95140-1", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ] }, { "uniprot_canonical_ac": "Q8IWA4-1", "uniprot_ac": "Q8IWA4", "uniprot_id": "MFN1_HUMAN", "refseq_ac": "NP_284941", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mitofusin-1", "type": "recommended" }, { "name": "3.6.5.-", "type": "synonym" }, { "name": "Fzo homolog", "type": "synonym" }, { "name": "Transmembrane GTPase MFN1", "type": "synonym" }, { "name": "fzo homolog", "type": "synonym" }, { "name": "mitochondrial transmembrane GTPase FZO-2", "type": "synonym" }, { "name": "mitochondrial transmembrane GTPase Fzo-1", "type": "synonym" }, { "name": "mitofusin-1", "type": "synonym" }, { "name": "putative transmembrane GTPase", "type": "synonym" }, { "name": "transmembrane GTPase MFN1", "type": "synonym" } ], "gene_names": [ { "name": "MFN1", "type": "recommended" }, { "name": "MFN1", "type": "synonym" }, { "name": "hfzo1", "type": "synonym" }, { "name": "hfzo2", "type": "synonym" } ], "record_id": "Q8IWA4-1", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050539" }