{
  "id": 11781,
  "label": "hypogonadotropic hypogonadism 1 with or without anosmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010635",
  "properties": {
    "xrefs": [
      "DOID:0090094",
      "GARD:0003071",
      "MEDGEN:295872",
      "NCIT:C75480",
      "OMIM:308700",
      "UMLS:C1563719"
    ],
    "synonyms": [
      "ANOS1 hypogonadotropic hypogonadism",
      "hypogonadotropic hypogonadism 1 with or without anosmia",
      "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive",
      "hypogonadotropic hypogonadism caused by mutation in ANOS1",
      "HH1",
      "KAL1",
      "KMS",
      "Kallmann syndrome 1",
      "Kallmann syndrome, X-linked",
      "Kallmann syndrome, type 1, X-linked",
      "anosmic hypogonadism",
      "dysplasia Olfactogenitalis of De Morsier",
      "hypogonadotropic hypogonadism and anosmia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3."
  },
  "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"
    }
  ]
}