{
    "disease_id": "DOID:0050631",
    "recommended_name": {
        "id": "DOID:0050631",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050631",
        "name": "Allan-Herndon-Dudley syndrome",
        "description": "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13."
    },
    "synonyms": [
        {
            "id": "DOID:0050631",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050631",
            "name": "AHDS",
            "description": ""
        },
        {
            "id": "DOID:0050631",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050631",
            "name": "ALLAN-HERNDON SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "Allan-Herndon-Dudley syndrome",
            "description": "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency."
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "AHDS",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "ALLAN-Herndon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "Allan-Herndon-Dudley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "MCT8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "MCT8-specific thyroid hormone cell Membrane transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "X-linked intellectual disability-hypotonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "monocarboxylate transporter 8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "ALLAN-Herndon-DUDLEY syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "Allan-Herndon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "T3 resisitence",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "T3 resistance",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "X-linked intellectual disability with hypotonia",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "intellectual disability and muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "intellectual disability, X-linked, with hypotonia",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "mental retardation and muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "mental retardation, X-linked, with hypotonia",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "monocarboxylate transporter-8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010354",
            "name": "triiodothyronine resistance",
            "description": ""
        },
        {
            "id": "MIM:300523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300523",
            "name": "Monocarboxylate transporter 8 deficiency",
            "description": "Monocarboxylate transporter 8 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050631"
    ],
    "unlinked_id_list": []
}