{
  "id": 18727,
  "label": "non-acquired combined pituitary hormone deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018762",
  "properties": {
    "xrefs": [
      "GARD:0002252",
      "MEDGEN:1842250",
      "NANDO:2200312",
      "Orphanet:467",
      "UMLS:C5680091"
    ],
    "synonyms": [
      "congenital combined pituitary hormone deficiency",
      "congenital hypopituitarism"
    ],
    "categories": [
      {
        "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 9147,
      "label": "Pallister-Hall syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16088,
        18727,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9248",
          "GARD:0007305",
          "ICD9:759.89",
          "MEDGEN:120514",
          "MESH:D054975",
          "NCIT:C84987",
          "NORD:1545",
          "OMIM:146510",
          "Orphanet:672",
          "SCTID:56677004",
          "UMLS:C0265220",
          "icd11.foundation:1845613381"
        ],
        "synonyms": [
          "PHS",
          "Pallister Hall syndrome",
          "Pallister-Hall syndrome",
          "ano-cerebro-digital syndrome",
          "hypothalamic hamartoblastoma syndrome",
          "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007804"
    },
    {
      "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": 13834,
      "label": "ANE syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4198,
        4370,
        16526,
        18727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112244",
          "GARD:0016987",
          "MEDGEN:394313",
          "MESH:C567425",
          "OMIM:612079",
          "Orphanet:157954",
          "UMLS:C2677535"
        ],
        "synonyms": [
          "ANE syndrome",
          "alopecia-progressive neurological defect-endocrinopathy syndrome",
          "alopecia, neurologic defects, and endocrinopathy syndrome",
          "anes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012794"
    },
    {
      "id": 15371,
      "label": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        18362,
        18727,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080328",
          "GARD:0013349",
          "MEDGEN:862916",
          "OMIM:615849",
          "Orphanet:420584",
          "UMLS:C4014479"
        ],
        "synonyms": [
          "CJS",
          "Culler-Jones syndrome",
          "Pallister-Hall syndrome 2",
          "Pallister-Hall syndrome 2, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014369"
    },
    {
      "id": 16852,
      "label": "holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        16087,
        18727,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4621",
          "GARD:0006665",
          "ICD10CM:Q04.2",
          "MEDGEN:38214",
          "MESH:D016142",
          "MedDRA:10056304",
          "NANDO:2200819",
          "NCIT:C74988",
          "NORD:1247",
          "OMIMPS:236100",
          "Orphanet:2162",
          "SCTID:30915001",
          "UMLS:C0079541",
          "icd11.foundation:1712699129"
        ],
        "synonyms": [
          "HPE",
          "holoprosencephaly sequence"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."
      },
      "child_count": 85,
      "reference_id": "MONDO:0016296"
    },
    {
      "id": 17714,
      "label": "deficiency in anterior pituitary function - variable immunodeficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15265,
        18727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017353",
          "MEDGEN:1666981",
          "Orphanet:293978",
          "UMLS:C4751122"
        ],
        "synonyms": [
          "David syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017407"
    }
  ],
  "roots": [
    {
      "id": 19562,
      "label": "non-acquired pituitary hormone deficiency"
    }
  ]
}