{
    "disease_id": "DOID:0060794",
    "recommended_name": {
        "id": "DOID:0060794",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060794",
        "name": "hypomyelinating leukodystrophy 7",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "HLD7",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "TACH syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "dentoleukoencephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "leukodystrophy with oligodontia",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "tremor-ataxia-central hypomyelination syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060794",
            "name": "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "4H syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "HLD7",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0011897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011897",
            "name": "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition",
            "description": ""
        },
        {
            "id": "MIM:607694",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607694",
            "name": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
            "description": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060794"
    ],
    "unlinked_id_list": []
}