{
  "id": 16079,
  "label": "classic lissencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015146",
  "properties": {
    "xrefs": [
      "GARD:0005049",
      "MEDGEN:98463",
      "NANDO:1201068",
      "NANDO:1201069",
      "Orphanet:102009",
      "UMLS:C0431375",
      "icd11.foundation:570001324"
    ],
    "synonyms": [
      "lissencephaly type 1",
      "ILS",
      "lissencephaly classic",
      "lissencephaly sequence isolated"
    ],
    "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": 10755,
      "label": "Miller-Dieker lissencephaly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16079,
        20965
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:21",
          "DOID:0060469",
          "GARD:0003669",
          "ICD9:758.33",
          "MEDGEN:78538",
          "MedDRA:10068361",
          "NANDO:1201083",
          "NCIT:C124852",
          "OMIM:247200",
          "Orphanet:531",
          "SCTID:253148005",
          "UMLS:C0265219"
        ],
        "synonyms": [
          "Miller-Dieker lissencephaly syndrome",
          "Miller-Dieker syndrome",
          "lissencephaly due to 17p13.3 deletion",
          "monosomy 17p13.3",
          "telomeric deletion 17p",
          "MDLS",
          "Miller-Dieker syndrome chromosome region",
          "chromosome 17P13.3 deletion syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009532"
    },
    {
      "id": 11416,
      "label": "lissencephaly type 1 due to doublecortin gene mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16079,
        19945
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112239",
          "GARD:0006914",
          "MEDGEN:1644310",
          "OMIM:300067",
          "Orphanet:2148",
          "SCTID:715780008",
          "UMLS:C4551968",
          "icd11.foundation:891064255"
        ],
        "synonyms": [
          "X-linked lissencephaly type 1",
          "lissencephaly type 1 due to doublecortin gene mutation",
          "lissencephaly, X-linked",
          "lissencephaly, X-linked, type 1",
          "subcortical laminal heterotopia, X-linked",
          "Dc syndrome",
          "Double cortex syndrome",
          "LISX",
          "LISX1",
          "X-linked lissencephaly",
          "XLIS",
          "Xlis",
          "lissencephaly X-linked",
          "lissencephaly and agenesis of corpus callosum",
          "lissencephaly, X-linked, 1",
          "subcortical band heterotopia, X-linked",
          "subcortical laminar heterotopia, X-linked",
          "subcortical laminar heterotopia, X-linked,"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010239"
    },
    {
      "id": 12911,
      "label": "lissencephaly due to LIS1 mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16079
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112237",
          "GARD:0016838",
          "MEDGEN:1657090",
          "OMIM:607432",
          "Orphanet:95232",
          "UMLS:C4749301"
        ],
        "synonyms": [
          "PAFAH1B1-related lissencephaly",
          "LIS1",
          "lissencephaly 1",
          "lissencephaly sequence, isolated",
          "lissencephaly, classic",
          "subcortical band heterotopia",
          "subcortical laminar heterotopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011830"
    },
    {
      "id": 16116,
      "label": "isolated lissencephaly type 1 without known genetic defects",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16079
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018715",
          "MEDGEN:895946",
          "Orphanet:1084",
          "SCTID:715406003",
          "UMLS:C4275151",
          "icd11.foundation:80358651"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015205"
    }
  ],
  "roots": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}