{
  "id": 9959,
  "label": "Wolf-Hirschhorn syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008684",
  "properties": {
    "xrefs": [
      "DECIPHER:1",
      "DOID:0050460",
      "GARD:0007896",
      "MEDGEN:408255",
      "MESH:D054877",
      "MedDRA:10050361",
      "NANDO:1200683",
      "NANDO:2200962",
      "NCIT:C35528",
      "NORD:1859",
      "OMIM:194190",
      "Orphanet:280",
      "SCTID:718226002",
      "UMLS:C1956097",
      "icd11.foundation:1337401724"
    ],
    "synonyms": [
      "4p deletion syndrome",
      "4p- syndrome",
      "Pitt syndrome",
      "Pitt-Rogers-Danks syndrome",
      "Wittwer syndrome",
      "Wolf-Hirschhorn syndrome",
      "Wolf-Hirschhorn syndrome, Isolated cases",
      "chromosome 4p16.3 deletion syndrome",
      "distal deletion 4p",
      "distal monosomy 4p",
      "telomeric deletion 4p",
      "4p syndrome",
      "WHS",
      "Wolf syndrome",
      "chromosome 4P16.3 deletion syndrome",
      "chromosome 4p syndrome",
      "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 20973,
      "label": "chromosome 4 short arm deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020808",
          "ICD10CM:Q93.3",
          "MEDGEN:419441",
          "MESH:C537637",
          "Orphanet:261884",
          "UMLS:C2931557",
          "icd11.foundation:1460916074"
        ],
        "synonyms": [
          "4p deletion",
          "4p monosomy",
          "chromosome 4p deletion",
          "deletion 4p",
          "monosomy 4p",
          "partial deletion of chromosome 4p",
          "partial deletion of the short arm of chromosome 4",
          "partial deletion of the short arm of chromosome type 4",
          "partial monosomy 4p",
          "partial monosomy of chromosome 4p",
          "partial monosomy of the short arm of chromosome 4"
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0022762"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 20973,
      "label": "chromosome 4 short arm deletion"
    }
  ]
}