{
  "id": 12766,
  "label": "PHACE syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011676",
  "properties": {
    "xrefs": [
      "GARD:0008338",
      "MEDGEN:376231",
      "MedDRA:10068032",
      "NORD:1927",
      "OMIM:606519",
      "Orphanet:42775",
      "UMLS:C1847874",
      "icd11.foundation:1825849023"
    ],
    "synonyms": [
      "pascual-Castroviejo syndrome type 2",
      "P-CIIS",
      "PHACE association",
      "Phaces association",
      "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities",
      "aortic aneurysm, giant congenital",
      "pascual-Castroviejo type II syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 6967,
      "label": "heart disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:114",
          "EFO:0003777",
          "ICD9:429.89",
          "ICD9:429.9",
          "ICD9:V47.2",
          "MEDGEN:5458",
          "MESH:D006331",
          "NCIT:C3079",
          "SCTID:56265001",
          "UMLS:C0018799",
          "icd11.foundation:1512587470"
        ],
        "synonyms": [
          "cardiac disease",
          "disease of heart",
          "disease or disorder of heart",
          "disorder of heart",
          "disorder of heart/pericardium",
          "heart disease",
          "heart disease or disorder",
          "heart disorder",
          "heart trouble",
          "heart/pericardial disease",
          "heart/pericardial disease or disorder",
          "heart/pericardial disorder",
          "heart/pericardial trouble"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the heart and/or pericardium."
      },
      "child_count": 34,
      "reference_id": "MONDO:0005267"
    },
    {
      "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": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 6967,
      "label": "heart disorder"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    }
  ]
}