{
  "id": 11119,
  "label": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009916",
  "properties": {
    "xrefs": [
      "DOID:0112248",
      "GARD:0005659",
      "MEDGEN:120626",
      "MESH:C537805",
      "MESH:C564868",
      "NANDO:2200390",
      "NCIT:C120203",
      "OMIM:264300",
      "Orphanet:752",
      "SCTID:50658006",
      "UMLS:C0268296",
      "icd11.foundation:887793448"
    ],
    "synonyms": [
      "17 Beta HSD3 deficiency",
      "17 beta HSD3 deficiency",
      "17-beta-hydroxysteroid dehydrogenase 3 deficiency",
      "17-ketoreductase deficiency",
      "17-ketosteroidreductase deficiency",
      "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",
      "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",
      "17 alpha KSR deficiency",
      "17 alpha ketosteroid reductase deficiency of testis",
      "17 beta hydroxysteroid dehydrogenase III deficiency",
      "17-BETA hydroxysteroid dehydrogenase III deficiency",
      "17-Beta hydroxysteroid dehydrogenase 3 deficiency",
      "17-KSR deficiency",
      "17-beta hydroxysteroid dehydrogenase 3 deficiency",
      "17-ketosteroid reductase deficiency of testis",
      "Male pseudoherma-phroditism with gynecomastia",
      "neutral 17 beta hydroxysteroid oxidoreductase deficiency",
      "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency",
      "polycystic ovarian disease due to 17-ketosteroid reductase deficiency",
      "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency",
      "pseudohermaphroditism, Male, with gynecomastia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}