{
  "id": 16603,
  "label": "growth hormone insensitivity syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015892",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020012",
          "MEDGEN:1842942",
          "MESH:D006130",
          "Orphanet:156643",
          "UMLS:C5680637"
        ],
        "synonyms": [
          "genetic endocrine growth disease",
          "growth disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015514"
    }
  ],
  "children": [
    {
      "id": 11080,
      "label": "Laron syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9521",
          "GARD:0006859",
          "MEDGEN:78776",
          "MESH:D046150",
          "NCIT:C130994",
          "NORD:1209",
          "OMIM:262500",
          "Orphanet:633",
          "SCTID:38196001",
          "UMLS:C0271568"
        ],
        "synonyms": [
          "GH receptor deficiency",
          "Growth Hormone Insensitivity",
          "Growth hormone receptor deficiency",
          "Laron syndrome",
          "Laron-type dwarfism",
          "complete growth hormone insensitivity",
          "primary GH insensitivity",
          "primary GH resistance",
          "primary growth hormone insensitivity",
          "primary growth hormone resistance",
          "short stature due to growth hormone resistance",
          "Laron dwarfism",
          "Laron type pituitary dwarfism I",
          "growth hormone insensitivity syndrome",
          "pituitary dwarfism 2",
          "pituitary dwarfism II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009877"
    },
    {
      "id": 11231,
      "label": "growth delay due to insulin-like growth factor I resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010609",
          "MEDGEN:338622",
          "MESH:C564816",
          "NANDO:2200320",
          "OMIM:270450",
          "Orphanet:73273",
          "SCTID:715625007",
          "UMLS:C1849157",
          "icd11.foundation:272435490"
        ],
        "synonyms": [
          "growth delay due to insulin-like growth factor I resistance",
          "resistance to IGF-1",
          "IGF-1 resistance",
          "IGF-I resistance",
          "IGF1RES",
          "Somatomedin end-organ insensitivity to",
          "Somatomedin, end-organ insensitivity to",
          "Somatomedin-C, resistance to",
          "Somatomedin-c resistance to",
          "insulin-like Growth Factor I, resistance to, due to increased binding Protein",
          "insulin-like growth factor 1 resistance to",
          "insulin-like growth factor I, resistance to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010038"
    },
    {
      "id": 12525,
      "label": "short stature due to partial GHR deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8345,
        16603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017435",
          "MEDGEN:346958",
          "MESH:C565805",
          "OMIM:604271",
          "Orphanet:314802",
          "UMLS:C1858656"
        ],
        "synonyms": [
          "short stature due to partial growth hormone receptor deficiency",
          "GHIP",
          "Growth hormone deficiency, isolated, partial",
          "Growth hormone, insensitivity to, partial",
          "growth hormone insensitivity, partial",
          "increased responsiveness to Growth hormone"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011420"
    },
    {
      "id": 13176,
      "label": "growth delay due to insulin-like growth factor type 1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010627",
          "MEDGEN:373337",
          "MESH:C563867",
          "OMIM:608747",
          "Orphanet:73272",
          "SCTID:724385009",
          "UMLS:C1837475"
        ],
        "synonyms": [
          "IGF-1 deficiency",
          "growth delay-deafness- intellectual disability syndrome",
          "growth retardation with deafness and mental retardation due to IGF1 deficiency",
          "primary insulin-like growth factor deficiency",
          "IGF1 deficiency",
          "growth retardation with sensorineural deafness and intellectual disability",
          "growth retardation with sensorineural deafness and mental retardation",
          "insulin-like growth Factor 1 deficiency",
          "insulin-like growth factor I deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012110"
    },
    {
      "id": 15422,
      "label": "short stature due to primary acid-labile subunit deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16603
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014420"
    },
    {
      "id": 23951,
      "label": "growth hormone insensitivity syndrome with immune dysregulation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026083",
          "OMIMPS:245590"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0100210"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease"
    }
  ]
}