{
    "disease_id": "DOID:0110196",
    "recommended_name": {
        "id": "DOID:0110196",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110196",
        "name": "Charcot-Marie-Tooth disease type 4G",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110196",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110196",
            "name": "autosomal recessive Charcot-Marie-Tooth disease type 4G",
            "description": ""
        },
        {
            "id": "DOID:0110196",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110196",
            "name": "CMT4G",
            "description": ""
        },
        {
            "id": "DOID:0110196",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110196",
            "name": "Charcot-Marie-Tooth neuropathy type 4G",
            "description": ""
        },
        {
            "id": "DOID:0110196",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110196",
            "name": "HMSNR",
            "description": ""
        },
        {
            "id": "DOID:0110196",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110196",
            "name": "hereditary motor and sensory neuropathy Russe type",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "Charcot-Marie-Tooth disease type 4G",
            "description": "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "neuropathy, hereditary motor and sensory, Russe type; HMSNR",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "Charcot-Marie-Tooth disease, type 4G",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "Charcot-Marie-Tooth disease, autosomal recessive, type 4G",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "Charcot-Marie-Tooth neuropathy type 4G",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "CMT4G",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "hereditary motor and sensory neuropathy Russe type",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "neuropathy, hereditary motor and sensory, Russe type",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "autosomal recessive Charcot-Marie-Tooth disease type 4G",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "Charcot-Marie-Tooth neuropathy, type 4G",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "HK1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "hereditary motor and sensory neuropathy, Russe type",
            "description": ""
        },
        {
            "id": "MONDO:0011534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011534",
            "name": "HMSNR",
            "description": ""
        },
        {
            "id": "MIM:605285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605285",
            "name": "Neuropathy, hereditary motor and sensory, Russe type",
            "description": "Neuropathy, hereditary motor and sensory, Russe type"
        }
    ]
}
