{
    "disease_id": "DOID:0061021",
    "recommended_name": {
        "id": "DOID:0061021",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061021",
        "name": "combined pituitary hormone deficiency 3",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0061021",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061021",
            "name": "CPHD3",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities",
            "description": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated."
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "pituitary hormone deficiency, combined, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "CPHD3",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "Deafness, sensorineural with pituitary dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "Pituitary hormone deficiency, combined with rigid cervical spine",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "Winkelmann-Bethge-Pfeiffer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "pituitary hormone deficiency, combined, 3",
            "description": ""
        },
        {
            "id": "MIM:221750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221750",
            "name": "Pituitary hormone deficiency, combined, 3",
            "description": "Pituitary hormone deficiency, combined, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061021"
    ],
    "unlinked_id_list": []
}