{
  "id": 9147,
  "label": "Pallister-Hall syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007804",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19562
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 7,
      "reference_id": "MONDO:0018762"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        20258,
        20259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026428"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two."
      },
      "child_count": 84,
      "reference_id": "MONDO:0800066"
    }
  ],
  "children": [
    {
      "id": 10665,
      "label": "congenital hypothalamic hamartoma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002934",
          "ICD9:759.6",
          "MEDGEN:1724922",
          "MESH:C537158",
          "NCIT:C4385",
          "OMIM:241800",
          "Orphanet:2113",
          "SCTID:237714006",
          "UMLS:C5435677",
          "icd11.foundation:2057991470"
        ],
        "synonyms": [
          "Pallister-Hall-like syndrome",
          "congenital hypothalamic hamartoma syndrome",
          "hamartoma of hypothalamus",
          "hypothalamic hamartoma",
          "hypothalamic hamartomas",
          "hamartoma of the hypothalamus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009436"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    }
  ]
}