{
    "disease_id": "DOID:0111388",
    "recommended_name": {
        "id": "DOID:0111388",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111388",
        "name": "X-linked hypoparathyroidism",
        "description": "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3."
    },
    "synonyms": [
        {
            "id": "DOID:0111388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111388",
            "name": "HYPX",
            "description": ""
        },
        {
            "id": "DOID:0111388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111388",
            "name": "agenesis of parathyroid glands",
            "description": ""
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland",
            "description": "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)."
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "X-linked hypoparathyroidism",
            "description": ""
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "HYPX",
            "description": ""
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "hypoparathyroidism, X-linked",
            "description": ""
        },
        {
            "id": "MIM:307700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/307700",
            "name": "Hypoparathyroidism, X-linked",
            "description": "Hypoparathyroidism, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111388"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111388",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111388",
            "categories": []
        },
        {
            "id": "MONDO:0010618",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "categories": []
        },
        {
            "id": "MIM:307700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/307700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41225-1",
            "uniprot_ac": "P41225",
            "uniprot_id": "SOX3_HUMAN",
            "refseq_ac": "NP_005625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-3",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 3",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX3",
                    "type": "recommended"
                },
                {
                    "name": "GHDX",
                    "type": "synonym"
                },
                {
                    "name": "MRGH",
                    "type": "synonym"
                },
                {
                    "name": "PHPX",
                    "type": "synonym"
                },
                {
                    "name": "PHP",
                    "type": "synonym"
                },
                {
                    "name": "SOX3",
                    "type": "synonym"
                },
                {
                    "name": "SOXB",
                    "type": "synonym"
                }
            ],
            "record_id": "P41225-1",
            "evidence": [
                {
                    "id": "307700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/307700"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111388"
}