{
    "disease_id": "DOID:0111140", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "hypothyroidism Central and testicular enlargement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "CHTE"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "hypothyroidism, central, and testicular enlargement; CHTE"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "hypothyroidism, central, and testicular enlargement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "central hypothyroidism and testicular enlargement"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010475", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010475", 
            "name": "Immunoglobulin superfamily member 1 deficiency syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111140", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111140", 
            "name": "CHTE"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111140", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111140", 
            "name": "central hypothyroidism and testicular enlargement"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111140", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111140", 
            "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111140", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111140", 
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111140", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111140", 
        "name": "IGSF1 deficiency syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111140#disease-associations", 
            "id": "0111140", 
            "database": "Alliance of Genome Resources"
        }
    ]
}