{
  "id": 16080,
  "label": "lissencephaly type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015148",
  "properties": {
    "xrefs": [
      "DOID:0112232",
      "GARD:0019821",
      "MEDGEN:369910",
      "Orphanet:102011",
      "UMLS:C1969029",
      "icd11.foundation:1533765623"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 2759,
      "label": "Neu-Laxova syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198,
        4370,
        16080,
        16087,
        16198,
        18528
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000102",
          "ICD9:759.89",
          "MEDGEN:78537",
          "MESH:C536405",
          "OMIMPS:256520",
          "Orphanet:2671",
          "SCTID:77817004",
          "UMLS:C0265218",
          "icd11.foundation:893358230"
        ],
        "synonyms": [
          "NLS",
          "Neu Laxova syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism."
      },
      "child_count": 18,
      "reference_id": "MONDO:0000179"
    },
    {
      "id": 12130,
      "label": "lissencephaly type 3-metacarpal bone dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16080
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016763",
          "MEDGEN:371379",
          "MESH:C563383",
          "OMIM:601160",
          "Orphanet:86822",
          "SCTID:718720007",
          "UMLS:C1832678"
        ],
        "synonyms": [
          "lissencephaly type 3 and bone dysplasia",
          "lissencephaly type III and bone dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011004"
    },
    {
      "id": 13743,
      "label": "lissencephaly due to TUBA1A mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16080
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017066",
          "MEDGEN:930822",
          "MESH:C566908",
          "NCIT:C148461",
          "OMIM:611603",
          "Orphanet:171680",
          "UMLS:C4305153"
        ],
        "synonyms": [
          "LIS3",
          "lissencephaly 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012703"
    },
    {
      "id": 19275,
      "label": "lissencephaly type 3-familial fetal akinesia sequence syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16080
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019067",
          "MEDGEN:930924",
          "Orphanet:86821",
          "SCTID:718719001",
          "UMLS:C4305255"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019449"
    }
  ],
  "roots": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}