{
  "id": 23951,
  "label": "growth hormone insensitivity syndrome with immune dysregulation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100210",
  "properties": {
    "xrefs": [
      "GARD:0026083",
      "OMIMPS:245590"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16603,
      "label": "growth hormone insensitivity syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003924",
          "MEDGEN:1384226",
          "NANDO:2100114",
          "NANDO:2200321",
          "NCIT:C129867",
          "Orphanet:181393",
          "UMLS:C4318479"
        ],
        "synonyms": [
          "GHIS",
          "Growth hormone insensitivity syndromes",
          "short stature due to a defect in growth hormone receptor or post-receptor pathway"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015892"
    }
  ],
  "children": [
    {
      "id": 23952,
      "label": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        7611,
        23951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080836",
          "GARD:0018311",
          "MEDGEN:1734133",
          "MESH:C537871",
          "NANDO:2200737",
          "OMIM:245590",
          "Orphanet:220465",
          "SCTID:724179008",
          "UMLS:C5435698"
        ],
        "synonyms": [
          "Laron syndrome due to postreceptor defect",
          "Laron syndrome with immunodeficiency",
          "Laron-like syndrome",
          "growth hormone insensitivity due to postreceptor defect",
          "short stature due to STAT5b deficiency",
          "growth hormone insensitivity with immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100211"
    },
    {
      "id": 23960,
      "label": "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080837",
          "GARD:0018312",
          "MEDGEN:1723138",
          "OMIM:618985",
          "UMLS:C5436546"
        ],
        "synonyms": [
          "GHISID2",
          "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT",
          "growth hormone insensitivity with immune dysregulation 2, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100219"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16603,
      "label": "growth hormone insensitivity syndrome"
    }
  ]
}