{
  "id": 10062,
  "label": "anencephaly 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008791",
  "properties": {
    "xrefs": [
      "GARD:0005808",
      "ICD9:740.0",
      "MEDGEN:1794138",
      "OMIM:206500",
      "Orphanet:1048",
      "SCTID:89369001",
      "UMLS:C5561928"
    ],
    "synonyms": [
      "ANPH",
      "anencephaly",
      "anencephaly 1",
      "isolated anencephaly/exencephaly",
      "absence of a large part of the brain and the skull"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3145,
      "label": "anencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060668",
          "GARD:0027563",
          "ICD10CM:Q00.0",
          "MEDGEN:8068",
          "MESH:D000757",
          "NCIT:C84560",
          "OMIMPS:206500",
          "UMLS:C0002902",
          "icd11.foundation:1292761836"
        ],
        "synonyms": [
          "anencephalus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000819"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3145,
      "label": "anencephaly"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}