{
    "disease_id": "DOID:0110210",
    "recommended_name": {
        "id": "DOID:0110210",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110210",
        "name": "Charcot-Marie-Tooth disease X-linked recessive 5",
        "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."
    },
    "synonyms": [
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110210",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110210",
            "name": "CMT5X",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110210",
            "name": "CMTX5",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110210",
            "name": "Rosenberg-Chutorian syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110210",
            "name": "X-linked Charcot-Marie-Tooth disease type 5",
            "description": ""
        },
        {
            "id": "DOID:0110210",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110210",
            "name": "optic atrophy, polyneuropathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease X-linked recessive 5",
            "description": "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype."
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "optic atrophy, sensorineural hearing loss and polyneuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "CMT5X",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "optic atrophy, polyneuropathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth neuropathy X type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "CMTX5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease X-linked recessive type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "familial opticoacoustic nerve degeneration and polyneuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "X-linked Charcot-Marie-Tooth disease type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0010699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010699",
            "name": "Rosenberg-Chutorian syndrome",
            "description": ""
        },
        {
            "id": "MIM:311070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311070",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5",
            "description": "Charcot-Marie-Tooth disease, X-linked recessive, 5"
        }
    ]
}