{
  "id": 11126,
  "label": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009923",
  "properties": {
    "xrefs": [
      "GARD:0005680",
      "MEDGEN:75667",
      "MESH:C535830",
      "MedDRA:10000029",
      "NANDO:2200389",
      "NCIT:C98699",
      "OMIM:264600",
      "Orphanet:753",
      "SCTID:57514000",
      "UMLS:C0268297",
      "icd11.foundation:1028755501"
    ],
    "synonyms": [
      "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency",
      "46,XY DSD due to 5-alpha-reductase 2 deficiency",
      "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",
      "5 Alpha steroid reductase 2 deficiency",
      "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency",
      "pseudovaginal perineoscrotal hypospadias",
      "steroid 5-alpha-reductase deficiency",
      "5-alpha reductase deficiency",
      "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency",
      "PPSH",
      "familial incomplete Male pseudohermaphroditism, type 2",
      "micropenis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3146",
          "GARD:0021314",
          "ICD9:272.8",
          "ICD9:272.9",
          "MEDGEN:57587",
          "MedDRA:10061227",
          "NCIT:C97092",
          "Orphanet:309005",
          "SCTID:267431006",
          "SCTID:402788005",
          "UMLS:C0154251"
        ],
        "synonyms": [
          "disorder of lipid metabolism",
          "dyslipidaemia",
          "dyslipidemia",
          "lipid metabolism disorder",
          "fatty acid metabolism disorder"
        ],
        "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."
      },
      "child_count": 29,
      "reference_id": "MONDO:0002525"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "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": 4594,
      "label": "inherited lipid metabolism disorder"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}