{
    "disease_id": "DOID:0061017",
    "recommended_name": {
        "id": "DOID:0061017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061017",
        "name": "combined pituitary hormone deficiency 4",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0061017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061017",
            "name": "short stature-pituitary and cerebellar defects-small sella turcica syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "short stature-pituitary and cerebellar defects-small sella turcica syndrome",
            "description": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)."
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "CPHD4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined 4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined with or without cerebellar defects",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined, 4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "short stature, pituitary and cerebellar defects and small sella turcica",
            "description": ""
        },
        {
            "id": "MIM:262700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262700",
            "name": "Pituitary hormone deficiency, combined, 4",
            "description": "Pituitary hormone deficiency, combined, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061017"
    ],
    "unlinked_id_list": []
}