{
    "disease_id": "DOID:0111140",
    "recommended_name": {
        "id": "DOID:0111140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111140",
        "name": "IGSF1 deficiency syndrome",
        "description": "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "CHTE",
            "description": ""
        },
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "central hypothyroidism and testicular enlargement",
            "description": ""
        },
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism",
            "description": ""
        },
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
            "description": "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency."
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "CHTE",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "IGSF1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "Immunoglobulin superfamily member 1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "hypothyroidism Central and testicular enlargement",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "hypothyroidism, central, and testicular enlargement, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "hypothyroidism, central, and testicular enlargement",
            "description": ""
        },
        {
            "id": "MIM:300888",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300888",
            "name": "Hypothyroidism, central, and testicular enlargement",
            "description": "Hypothyroidism, central, and testicular enlargement"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111140"
    ],
    "unlinked_id_list": []
}