{
  "id": 11079,
  "label": "isolated growth hormone deficiency type IA",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009876",
  "properties": {
    "xrefs": [
      "DOID:0060873",
      "GARD:0007399",
      "ICD9:259.4",
      "MEDGEN:90986",
      "MESH:C537404",
      "OMIM:262400",
      "Orphanet:231662",
      "SCTID:237837007",
      "UMLS:C0342573"
    ],
    "synonyms": [
      "Illig-type growth hormone deficiency",
      "congenital IGHD type IA",
      "congenital isolated GH deficiency type IA",
      "congenital isolated growth hormone deficiency type IA",
      "growth hormone deficiency, isolated, type IA",
      "isolated growth hormone deficiency type IA",
      "primordial dwarfism",
      "sexual ateleiotic dwarfism",
      "Growth hormone deficiency, isolated autosomal recessive",
      "Growth hormone deficiency, isolated, autosomal recessive",
      "IGHD 1A",
      "IGHD1A",
      "ILLIG type growth hormone deficiency",
      "Illig-type Growth hormone deficiency",
      "congenital IGHD",
      "congenital isolated GH deficiency",
      "congenital isolated growth hormone deficiency",
      "isolated Growth hormone deficiency, type 1A",
      "isolated growth hormone deficiency type 1A",
      "isolated growth hormone deficiency, type IA",
      "non-acquired isolated growth hormone deficiency",
      "pituitary dwarfism 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2711,
      "label": "isolated congenital growth hormone deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060870",
          "GARD:0012556",
          "MEDGEN:1843308",
          "MedDRA:10035083",
          "NANDO:2200317",
          "OMIMPS:262400",
          "Orphanet:631",
          "SCTID:2109003",
          "UMLS:C5679572",
          "icd11.foundation:936501166"
        ],
        "synonyms": [
          "ICGHD",
          "congenital IGHD",
          "congenital isolated GH deficiency",
          "congenital isolated growth hormone deficiency",
          "isolated growth hormone deficiency",
          "non-acquired isolated growth hormone deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0000050"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2711,
      "label": "isolated congenital growth hormone deficiency"
    }
  ]
}