{
  "id": 2711,
  "label": "isolated congenital growth hormone deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000050",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6876,
        16526,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010602",
          "MEDGEN:906592",
          "OMIMPS:613038",
          "Orphanet:95494",
          "SCTID:718182008",
          "UMLS:C4273747"
        ],
        "synonyms": [
          "familial congenital hypopituitarism",
          "genetic hypopituitarism",
          "multiple pituitary hormone deficiencies, genetic forms",
          "pituitary hormone deficiency, combined",
          "combined pituitary hormone deficiencies, genetic forms",
          "familial hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."
      },
      "child_count": 36,
      "reference_id": "MONDO:0013099"
    }
  ],
  "children": [
    {
      "id": 9557,
      "label": "isolated growth hormone deficiency type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060872",
          "GARD:0001696",
          "MEDGEN:124405",
          "MESH:C562704",
          "OMIM:173100",
          "Orphanet:231679",
          "SCTID:237687003",
          "UMLS:C0271567"
        ],
        "synonyms": [
          "congenital IGHD type II",
          "congenital isolated GH deficiency type II",
          "congenital isolated growth hormone deficiency type II",
          "growth hormone deficiency, isolated, type II",
          "Growth hormone deficiency, isolated autosomal dominant",
          "Growth hormone deficiency, isolated, autosomal dominant",
          "IGHD 2",
          "IGHD2",
          "isolated Growth hormone deficiency, type 2",
          "isolated growth hormone deficiency type 2",
          "isolated growth hormone deficiency, type II",
          "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant",
          "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008250"
    },
    {
      "id": 11079,
      "label": "isolated growth hormone deficiency type IA",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009876"
    },
    {
      "id": 11082,
      "label": "short stature due to growth hormone qualitative anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000408",
          "MEDGEN:340412",
          "MESH:C537505",
          "OMIM:262650",
          "Orphanet:629",
          "UMLS:C1849779",
          "icd11.foundation:1665498704"
        ],
        "synonyms": [
          "Kowarski syndrome",
          "Biodefective Growth hormone",
          "KOWARSKI syndrome",
          "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009879"
    },
    {
      "id": 11763,
      "label": "isolated growth hormone deficiency type III",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060875",
          "GARD:0003921",
          "MEDGEN:141630",
          "MESH:C537149",
          "OMIM:307200",
          "Orphanet:231692",
          "SCTID:234533006",
          "UMLS:C0472813"
        ],
        "synonyms": [
          "Fleisher syndrome",
          "X-linked IGHD",
          "X-linked isolated growth hormone deficiency",
          "congenital IGHD type III",
          "congenital isolated GH deficiency type III",
          "congenital isolated growth hormone deficiency type III",
          "isolated growth hormone deficiency type III",
          "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive",
          "Growth hormone deficiency with hypogammaglobulinemia",
          "IGHD 3",
          "IGHD3",
          "agammaglobulinemia and isolated Growth hormone deficiency, X-linked",
          "hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked",
          "isolated growth hormone deficiency type 3",
          "isolated growth hormone deficiency, type 3",
          "isolated growth hormone deficiency, type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0010615"
    },
    {
      "id": 14045,
      "label": "isolated growth hormone deficiency type IB",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060874",
          "GARD:0003919",
          "MEDGEN:411242",
          "MESH:C567564",
          "OMIM:612781",
          "Orphanet:231671",
          "UMLS:C2748571"
        ],
        "synonyms": [
          "congenital IGHD type IB",
          "congenital isolated GH deficiency type IB",
          "congenital isolated growth hormone deficiency type IB",
          "dwarfism of Sindh",
          "growth hormone deficiency, isolated, type IB",
          "IGHD 1B",
          "IGHD1B",
          "isolated Growth hormone deficiency, type 1B",
          "isolated growth hormone deficiency type 1B",
          "isolated growth hormone deficiency, type IB"
        ],
        "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 low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013006"
    },
    {
      "id": 22258,
      "label": "isolated growth hormone deficiency, type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025703",
          "MEDGEN:1648300",
          "OMIM:618157",
          "Orphanet:684247",
          "UMLS:C4722273"
        ],
        "synonyms": [
          "growth hormone deficiency, isolated, type IV",
          "Dwarfism of Sindh",
          "IGHD4",
          "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV",
          "Isolated Growth Hormone Deficiency, Type Ib",
          "Isolated Growth Hormone Deficiency, Type Ib, Formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032567"
    },
    {
      "id": 22260,
      "label": "isolated growth hormone deficiency, type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061016",
          "GARD:0025704",
          "MEDGEN:1648500",
          "OMIM:618160",
          "UMLS:C4748435"
        ],
        "synonyms": [
          "pituitary hormone deficiency, combined or isolated, 7",
          "IGHD5",
          "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032569"
    }
  ],
  "roots": [
    {
      "id": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form"
    }
  ]
}