{
    "disease_id": "DOID:0110186",
    "recommended_name": {
        "id": "DOID:0110186",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110186",
        "name": "Charcot-Marie-Tooth disease type 4D",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "CMT4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "Charcot-Marie-Tooth neuropathy type 4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "HMSN Lom type",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "HMSN-Lom",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "HMSN4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "HMSNL",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "hereditary motor abd sensory neuropathy LOM type",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110186",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease type 4D",
            "description": "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported."
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "hereditary motor ABD sensory neuropathy Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "NDRG1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "neuropathy, hereditary motor and sensory, Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth neuropathy type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth neuropathy, type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "hereditary motor and sensory neuropathy, Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease, type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Hmsn4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "CMT4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN, Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSNL",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN-Lom",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "NMSL",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease, type 4D; CMT4D",
            "description": ""
        },
        {
            "id": "MIM:601455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601455",
            "name": "Charcot-Marie-Tooth disease 4D",
            "description": "Charcot-Marie-Tooth disease 4D"
        }
    ]
}