{
    "disease_id": "DOID:0110204",
    "recommended_name": {
        "id": "DOID:0110204",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110204",
        "name": "Charcot-Marie-Tooth disease recessive intermediate B",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110204",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type B",
            "description": ""
        },
        {
            "id": "DOID:0110204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110204",
            "name": "CMTRIB",
            "description": ""
        },
        {
            "id": "DOID:0110204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110204",
            "name": "RI-CMTB",
            "description": ""
        },
        {
            "id": "DOID:0110204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110204",
            "name": "Charcot-Marie-Tooth neuropathy recessive intermediate B",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "Charcot-Marie-Tooth disease recessive intermediate B",
            "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology."
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "CMTRIB",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "Charcot-Marie-Tooth disease caused by mutation in KARS",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "Charcot-Marie-Tooth disease recessive intermediate type B",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "Charcot-Marie-Tooth disease, recessive Intermediate type B",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "KARS Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "RI-CMT type B",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "RI-CMTB",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type B",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate B",
            "description": ""
        },
        {
            "id": "MONDO:0013338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013338",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate, B",
            "description": ""
        },
        {
            "id": "MIM:613641",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613641",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate B",
            "description": "Charcot-Marie-Tooth disease, recessive intermediate B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110204"
    ],
    "unlinked_id_list": []
}