{
  "id": 16115,
  "label": "microlissencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015204",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        20383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050453",
          "GARD:0012291",
          "HP:0001339",
          "MEDGEN:78604",
          "MESH:D054082",
          "MedDRA:10048911",
          "NANDO:1200574",
          "NANDO:2200817",
          "NCIT:C103921",
          "NORD:1374",
          "OMIMPS:607432",
          "Orphanet:48471",
          "SCTID:204036008",
          "UMLS:C0266463"
        ],
        "synonyms": [
          "Lissencephaly",
          "lissencephaly",
          "lissencephaly (disease)",
          "lissencephaly spectrum disorders",
          "Broad gyri of cerebrum",
          "large gyri of cerebrum",
          "macrogyria",
          "pachygyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018838"
    }
  ],
  "children": [
    {
      "id": 10970,
      "label": "Norman-Roberts syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16115,
        19154,
        23165
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009760"
    },
    {
      "id": 14556,
      "label": "lissencephaly 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16115,
        24511
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112235",
          "GARD:0024934",
          "MEDGEN:462811",
          "OMIM:614019",
          "UMLS:C3151461"
        ],
        "synonyms": [
          "NDE1 lissencephaly (disease)",
          "lissencephaly (disease) caused by mutation in NDE1",
          "lissencephaly 4",
          "lissencephaly 4 (with microcephaly)",
          "lissencephaly type 4",
          "LIS4",
          "lissencephaly 4 with microcephaly",
          "lissencephaly 4, with microcephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013527"
    },
    {
      "id": 15533,
      "label": "lissencephaly 6 with microcephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16115
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112236",
          "GARD:0024999",
          "MEDGEN:863962",
          "OMIM:616212",
          "UMLS:C4015525"
        ],
        "synonyms": [
          "KATNB1 Microlissencephaly",
          "KATNB1 microlissencephaly",
          "Microlissencephaly caused by mutation in KATNB1",
          "lissencephaly 6 with microcephaly",
          "lissencephaly 6, with microcephaly",
          "microlissencephaly caused by mutation in KATNB1",
          "LIS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014534"
    }
  ],
  "roots": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}