{
  "id": 15422,
  "label": "short stature due to primary acid-labile subunit deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014420",
  "properties": {
    "xrefs": [
      "GARD:0016964",
      "MEDGEN:859716",
      "OMIM:615961",
      "Orphanet:140941",
      "SCTID:721074002",
      "UMLS:C3900122",
      "icd11.foundation:29735645"
    ],
    "synonyms": [
      "acid-labile subunit, deficiency of",
      "ACLSD",
      "acid-labile SUBUNIT deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16603,
      "label": "growth hormone insensitivity syndrome"
    }
  ]
}