{
  "id": 15112,
  "label": "hypogonadotropic hypogonadism 18 with or without anosmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014103",
  "properties": {
    "xrefs": [
      "DOID:0090076",
      "GARD:0015929",
      "MEDGEN:815305",
      "OMIM:615267",
      "UMLS:C3808975"
    ],
    "synonyms": [
      "IL17RD hypogonadotropic hypogonadism",
      "hypogonadotropic hypogonadism 18 with or without anosmia",
      "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant",
      "hypogonadotropic hypogonadism caused by mutation in IL17RD",
      "HH18"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18747,
      "label": "Kallmann syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3614",
          "GARD:0010771",
          "ICD9:253.4",
          "MEDGEN:102469",
          "MESH:D017436",
          "MedDRA:10053142",
          "NANDO:2200381",
          "NCIT:C75479",
          "NORD:1319",
          "Orphanet:478",
          "SCTID:93559003",
          "UMLS:C0162809"
        ],
        "synonyms": [
          "Olfacto-genital pathological sequence",
          "congenital hypogonadotropic hypogonadism with anosmia",
          "hypogonadotropic hypogonadism with anosmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)."
      },
      "child_count": 36,
      "reference_id": "MONDO:0018800"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18747,
      "label": "Kallmann syndrome"
    }
  ]
}