{
  "id": 14137,
  "label": "combined pituitary hormone deficiencies, genetic form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013099",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 6876,
      "label": "hypopituitarism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9406",
          "EFO:0001380",
          "ICD10CM:E23.0",
          "MEDGEN:9386",
          "MESH:D007018",
          "NANDO:1200387",
          "NANDO:2100110",
          "NCIT:C62591",
          "SCTID:74728003",
          "UMLS:C0020635",
          "icd11.foundation:768216194"
        ],
        "synonyms": [
          "pituitary insufficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005152"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 2711,
      "label": "isolated congenital growth hormone deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        14137
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0000050"
    },
    {
      "id": 9723,
      "label": "septooptic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905,
        4370,
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060857",
          "GARD:0007627",
          "MEDGEN:90926",
          "MESH:D025962",
          "MedDRA:10067159",
          "NANDO:1200560",
          "NANDO:1200561",
          "NANDO:2200820",
          "NCIT:C85063",
          "OMIM:182230",
          "Orphanet:3157",
          "SCTID:7611002",
          "UMLS:C0338503"
        ],
        "synonyms": [
          "De Morsier syndrome",
          "SOD",
          "septo-optic dysplasia",
          "septo-optic dysplasia sequence",
          "septooptic dysplasia",
          "Growth hormone deficiency with pituitary anomalies",
          "hypopituitarism and septooptic 'dysplasia'",
          "pituitary hormone deficiency, combined, 5",
          "septo-optic dysplasia spectrum",
          "septo-optic dysplasia with growth hormone deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008428"
    },
    {
      "id": 9993,
      "label": "congenital isolated adrenocorticotropic hormone deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14137,
        17048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080150",
          "EFO:1001979",
          "GARD:0005727",
          "HP:0011748",
          "ICD9:255.41",
          "MEDGEN:137968",
          "MESH:C535668",
          "OMIM:201400",
          "Orphanet:199296",
          "SCTID:237692001",
          "UMLS:C0342388"
        ],
        "synonyms": [
          "adrenocorticotropic hormone deficiency",
          "congenital isolated adrenocorticotropic hormone deficiency (disease)",
          "ACTH deficiency, isolated",
          "IAD",
          "congenital isolated ACTH deficiency",
          "isolated ACTH deficiency",
          "isolated adrenocorticotropic hormone deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008720"
    },
    {
      "id": 10339,
      "label": "non-acquired combined pituitary hormone deficiency with spine abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14137,
        18727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061021",
          "GARD:0010603",
          "MEDGEN:483740",
          "MESH:C536710",
          "OMIM:221750",
          "Orphanet:231720",
          "UMLS:C3489787"
        ],
        "synonyms": [
          "non-acquired combined pituitary hormone deficiency with spine abnormalities",
          "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome",
          "pituitary hormone deficiency, combined, type 3",
          "CPHD3",
          "Deafness, sensorineural with pituitary dwarfism",
          "Pituitary hormone deficiency, combined with rigid cervical spine",
          "Winkelmann-Bethge-Pfeiffer syndrome",
          "deafness, sensorineural, with pituitary dwarfism",
          "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome",
          "pituitary hormone deficiency, combined, 3",
          "pituitary hormone deficiency, combined, with rigid cervical spine"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009091"
    },
    {
      "id": 11083,
      "label": "short stature-pituitary and cerebellar defects-small sella turcica syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14137,
        18727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061017",
          "GARD:0010604",
          "MEDGEN:394816",
          "MESH:C567492",
          "OMIM:262700",
          "Orphanet:85442",
          "UMLS:C2678408"
        ],
        "synonyms": [
          "pituitary hormone deficiency, combined, type 4",
          "CPHD4",
          "pituitary hormone deficiency, combined 4",
          "pituitary hormone deficiency, combined with or without cerebellar defects",
          "pituitary hormone deficiency, combined, 4",
          "pituitary hormone deficiency, combined, with or without cerebellar defects",
          "short stature, pituitary and cerebellar defects and small sella turcica",
          "short stature, pituitary and cerebellar defects, and small sella turcica"
        ],
        "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-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009880"
    },
    {
      "id": 14548,
      "label": "pituitary hormone deficiency, combined, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061022",
          "GARD:0016520",
          "MEDGEN:462790",
          "OMIM:613986",
          "UMLS:C3151440"
        ],
        "synonyms": [
          "OTX2 combined pituitary hormone deficiencies, genetic form",
          "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2",
          "pituitary hormone deficiency, combined, 6",
          "pituitary hormone deficiency, combined, type 6",
          "CPHD6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013518"
    },
    {
      "id": 19394,
      "label": "panhypopituitarism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9410",
          "GARD:0015020",
          "ICD9:253.2",
          "MEDGEN:69171",
          "MedDRA:10033662",
          "NCIT:C110940",
          "Orphanet:90695",
          "SCTID:32390006",
          "UMLS:C0242343",
          "icd11.foundation:1576287890"
        ],
        "synonyms": [
          "complete hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Insufficient production of all the anterior pituitary hormones."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019591"
    },
    {
      "id": 21420,
      "label": "pituitary hormone deficiency, combined, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061019",
          "GARD:0010601",
          "MEDGEN:414421",
          "MESH:C567803",
          "OMIM:613038",
          "UMLS:C2751608"
        ],
        "synonyms": [
          "CPHD1",
          "POU1F1 combined pituitary hormone deficiencies, genetic form",
          "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1",
          "pituitary hormone deficiency, combined or isolated, 1",
          "pituitary hormone deficiency, combined, 1",
          "pituitary hormone deficiency, combined 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024464"
    },
    {
      "id": 25605,
      "label": "pituitary hormone deficiency, combined or isolated, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061018",
          "GARD:0026788",
          "MEDGEN:1841011",
          "OMIM:620303",
          "UMLS:C5830375"
        ],
        "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:0957208"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 6876,
      "label": "hypopituitarism"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}