{
  "id": 3145,
  "label": "anencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000819",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10062,
      "label": "anencephaly 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3145,
        16087
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008791"
    },
    {
      "id": 16882,
      "label": "hydranencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3145,
        17479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4626",
          "GARD:0006681",
          "HP:0002324",
          "MEDGEN:6937",
          "MESH:D006832",
          "NCIT:C98949",
          "NORD:1258",
          "Orphanet:2177",
          "SCTID:30023002",
          "UMLS:C0020225",
          "icd11.foundation:1963574608"
        ],
        "synonyms": [
          "hydranencephaly",
          "hydranencephaly (disease)",
          "Hydroanencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016344"
    },
    {
      "id": 21893,
      "label": "anencephaly 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3145
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027927",
          "MEDGEN:1794155",
          "OMIM:619452",
          "UMLS:C5561945"
        ],
        "synonyms": [
          "ANPH2",
          "anencephaly 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030338"
    },
    {
      "id": 22833,
      "label": "isolated anencephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3145
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022254",
          "Orphanet:563609",
          "icd11.foundation:452325024"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035401"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}