{
  "id": 10970,
  "label": "Norman-Roberts syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009760",
  "properties": {
    "xrefs": [
      "DOID:0060902",
      "GARD:0016780",
      "MEDGEN:163213",
      "OMIM:257320",
      "Orphanet:89844",
      "SCTID:717977003",
      "UMLS:C0796089",
      "icd11.foundation:164166454"
    ],
    "synonyms": [
      "Microlissencephaly type A",
      "Norman-Roberts syndrome",
      "lissencephaly 2",
      "lissencephaly 2 (Norman-Roberts type)",
      "lissencephaly syndrome, Norman-Roberts type",
      "LIS2",
      "Norman Roberts lissencephaly syndrome",
      "lissencephaly syndrome Norman-Roberts type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation."
  },
  "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": 16115,
      "label": "microlissencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112234",
          "GARD:0016555",
          "MEDGEN:365439",
          "Orphanet:1083",
          "UMLS:C1956147",
          "icd11.foundation:169315445"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015204"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        19049
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050580",
          "GARD:0013057",
          "ICD10CM:Q82.0",
          "ICD9:757.0",
          "MEDGEN:140763",
          "OMIMPS:153100",
          "SCTID:254199006",
          "UMLS:C0398368"
        ],
        "synonyms": [
          "hereditary lymphedema",
          "lymphedema, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation."
      },
      "child_count": 84,
      "reference_id": "MONDO:0019313"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:857738",
          "NCIT:C117007",
          "UMLS:C3898144"
        ],
        "synonyms": [
          "disease of nervous system vasculature",
          "nervous system disorder of vasculature",
          "neurovascular disorder",
          "vasculature nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the nervous system related to a vascular etiology."
      },
      "child_count": 58,
      "reference_id": "MONDO:0043218"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16115,
      "label": "microlissencephaly"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder"
    }
  ]
}