{
  "id": 16330,
  "label": "hereditary endocrine growth disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015514",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    }
  ],
  "children": [
    {
      "id": 15455,
      "label": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16330,
        16918,
        17206,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017727",
          "MEDGEN:863379",
          "OMIM:616007",
          "Orphanet:436174",
          "UMLS:C4014942"
        ],
        "synonyms": [
          "CAGSSS",
          "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014455"
    },
    {
      "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"
    },
    {
      "id": 16926,
      "label": "permanent congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16330,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020560",
          "MEDGEN:1843186",
          "Orphanet:226292",
          "UMLS:C5680893",
          "icd11.foundation:801729371"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016408"
    },
    {
      "id": 18518,
      "label": "congenital adrenal hyperplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7177,
        16074,
        16330,
        16604
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050811",
          "GARD:0001467",
          "ICD9:255.2",
          "MEDGEN:7900",
          "MESH:D000312",
          "MedDRA:10010323",
          "NANDO:1200396",
          "NANDO:1200397",
          "NANDO:2100134",
          "NANDO:2200370",
          "NCIT:C34360",
          "NORD:992",
          "Orphanet:418",
          "SCTID:237751000",
          "UMLS:C0001627",
          "icd11.foundation:172733763"
        ],
        "synonyms": [
          "adrenal hyperplasia",
          "adrenogenital disorder",
          "adrenogenital syndrome",
          "CAH",
          "adrenal hyperplasia, congenital",
          "congenital adrenal gland hyperplasia",
          "congenital lipoid adrenal hyperplasia",
          "lipoid CAH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease."
      },
      "child_count": 32,
      "reference_id": "MONDO:0018479"
    },
    {
      "id": 19562,
      "label": "non-acquired pituitary hormone deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16072,
        16330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019272",
          "MEDGEN:1842784",
          "Orphanet:95488",
          "UMLS:C5681572"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0019824"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    },
    {
      "id": 23111,
      "label": "Zerres Rietschel Majewski syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000338",
          "MEDGEN:419769",
          "MESH:C536724",
          "UMLS:C2931301"
        ],
        "synonyms": [
          "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability",
          "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043069"
    },
    {
      "id": 23141,
      "label": "microdontia hypodontia short stature",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10068,
        16330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003638",
          "MEDGEN:419435",
          "MESH:C537553",
          "UMLS:C2931532"
        ],
        "synonyms": [
          "microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043141"
    }
  ],
  "roots": [
    {
      "id": 6875,
      "label": "endocrine system disorder"
    }
  ]
}