{
  "id": 29369,
  "label": "NR5A1-related sex development disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060211",
  "properties": {
    "synonyms": [
      "NR5A1-related sex development disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6772,
      "label": "reproductive system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:15",
          "EFO:0000512",
          "MEDGEN:61253",
          "NCIT:C4875",
          "SCTID:362968007",
          "UMLS:C0178829",
          "Wikipedia:Reproductive_system_disease"
        ],
        "synonyms": [
          "disease of reproductive system",
          "disease or disorder of reproductive system",
          "disorder of reproductive system",
          "genital disorders",
          "reproductive disease",
          "reproductive system disease",
          "reproductive system disease or disorder",
          "reproductive system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A disease involving the reproductive system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0005039"
    }
  ],
  "children": [
    {
      "id": 14103,
      "label": "premature ovarian failure 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19578,
        29369
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080864",
          "GARD:0024899",
          "MEDGEN:414115",
          "MESH:C567838",
          "OMIM:612964",
          "UMLS:C2751825"
        ],
        "synonyms": [
          "adrenocortical insufficiency",
          "NR5A1 primary ovarian failure",
          "premature ovarian failure 7",
          "premature ovarian failure type 7",
          "primary ovarian failure caused by mutation in NR5A1",
          "Pof7",
          "adrenal insufficiency, Nr5A1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013065"
    },
    {
      "id": 14104,
      "label": "46,XY sex reversal 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141,
        29369
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111772",
          "GARD:0015598",
          "MEDGEN:483746",
          "NANDO:1200405",
          "OMIM:612965",
          "UMLS:C3489793"
        ],
        "synonyms": [
          "46,XY Sex reversal type 3",
          "46,XY sex reversal 3",
          "46XY sex reversal 3",
          "46,XY SEX reversal 3",
          "46,XY Sex reversal, partial or complete, Nr5A1-related",
          "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure",
          "SRXY3",
          "Sex reversal, XY, with or without adrenal failure",
          "disorder of Sex development, 46,XY, Nr5A1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013066"
    },
    {
      "id": 14534,
      "label": "spermatogenic failure 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6724,
        29369
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070169",
          "GARD:0015734",
          "MEDGEN:462756",
          "OMIM:613957",
          "UMLS:C3151406"
        ],
        "synonyms": [
          "NR5A1 azoospermia",
          "azoospermia caused by mutation in NR5A1",
          "spermatogenic failure 8",
          "spermatogenic failure type 8",
          "SPGF8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013504"
    },
    {
      "id": 23681,
      "label": "46,XX sex reversal 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23987,
        29369
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111764",
          "GARD:0025995",
          "MEDGEN:1373282",
          "OMIM:617480",
          "UMLS:C4479552"
        ],
        "synonyms": [
          "46, XX sex reversal 4",
          "46,XX SEX reversal 4",
          "46,XX Sex reversal, Sry-Negative",
          "SRXX4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060489"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6772,
      "label": "reproductive system disorder"
    }
  ]
}