{
    "disease_id": "DOID:0110201",
    "recommended_name": {
        "id": "DOID:0110201",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110201",
        "name": "Charcot-Marie-Tooth disease recessive intermediate A",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110201",
            "name": "CMTRIA",
            "description": ""
        },
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110201",
            "name": "RI-CMTA",
            "description": ""
        },
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110201",
            "name": "Charcot-Marie-Tooth neuropathy recessive intermediate A",
            "description": ""
        },
        {
            "id": "DOID:0110201",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110201",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease recessive intermediate a",
            "description": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease caused by mutation in GDAP1",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "CMTRIA",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Ri-Cmta",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "RI-CMTA",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "RI-CMT type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth neuropathy, recessive Intermediate a",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease recessive intermediate type A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth neuropathy recessive intermediate A",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate A; CMTRIA",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "GDAP1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive Intermediate type a",
            "description": ""
        },
        {
            "id": "MONDO:0012014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012014",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate, A",
            "description": ""
        },
        {
            "id": "MIM:608340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608340",
            "name": "Charcot-Marie-Tooth disease, recessive, intermediate type, A",
            "description": "Charcot-Marie-Tooth disease, recessive, intermediate type, A"
        }
    ]
}