{
  "id": 10650,
  "label": "Woodhouse-Sakati syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009419",
  "properties": {
    "xrefs": [
      "DOID:0112264",
      "GARD:0005592",
      "ICD9:759.89",
      "MEDGEN:83337",
      "MESH:C536742",
      "OMIM:241080",
      "Orphanet:3464",
      "SCTID:237616002",
      "UMLS:C0342286",
      "icd11.foundation:1893572805"
    ],
    "synonyms": [
      "Woodhouse-Sakati syndrome",
      "diabetes-hypogonadism-deafness-intellectual disability syndrome",
      "woodhouse-Sakati syndrome",
      "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia",
      "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia",
      "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome",
      "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome",
      "hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities",
      "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities",
      "woodhouse Sakati syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4393,
        4397,
        7073,
        16360,
        18954,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110734",
          "GARD:0011899",
          "MEDGEN:444156",
          "MESH:C538421",
          "NANDO:2100241",
          "OMIMPS:234200",
          "Orphanet:385",
          "UMLS:C2931845",
          "icd11.foundation:440483530"
        ],
        "synonyms": [
          "NBIA",
          "neurodegeneration with brain iron accumulation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."
      },
      "child_count": 84,
      "reference_id": "MONDO:0018307"
    },
    {
      "id": 23452,
      "label": "inherited dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5367,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021630",
          "MEDGEN:1842468",
          "NANDO:1200511",
          "NCIT:C35527",
          "OMIMPS:128100",
          "Orphanet:391799",
          "UMLS:C5680022"
        ],
        "synonyms": [
          "familial dystonia",
          "hereditary dystonic disorder",
          "rare genetic dystonia",
          "rare genetic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 48,
      "reference_id": "MONDO:0044807"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation"
    },
    {
      "id": 23452,
      "label": "inherited dystonia"
    }
  ]
}