{
  "id": 19276,
  "label": "lissencephaly with cerebellar hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019450",
  "properties": {
    "xrefs": [
      "GARD:0019068",
      "MEDGEN:905529",
      "Orphanet:86823",
      "SCTID:715817007",
      "UMLS:C4274995",
      "icd11.foundation:649858830"
    ],
    "synonyms": [
      "LCH"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": 16010,
      "label": "lissencephaly with cerebellar hypoplasia type A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019731",
          "MEDGEN:1679234",
          "Orphanet:100011",
          "UMLS:C5191423",
          "icd11.foundation:853428618"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015034"
    },
    {
      "id": 16011,
      "label": "lissencephaly with cerebellar hypoplasia type B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019732",
          "MEDGEN:906879",
          "Orphanet:100012",
          "SCTID:715819005",
          "UMLS:C4274993",
          "icd11.foundation:1056934902"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015035"
    },
    {
      "id": 16012,
      "label": "lissencephaly with cerebellar hypoplasia type C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019733",
          "MEDGEN:900624",
          "Orphanet:100013",
          "SCTID:715820004",
          "UMLS:C4274992",
          "icd11.foundation:1837040262"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015036"
    },
    {
      "id": 16013,
      "label": "lissencephaly with cerebellar hypoplasia type D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019734",
          "MEDGEN:895252",
          "Orphanet:100014",
          "SCTID:715821000",
          "UMLS:C4274991",
          "icd11.foundation:1633599738"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015037"
    },
    {
      "id": 16014,
      "label": "lissencephaly with cerebellar hypoplasia type E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019735",
          "MEDGEN:1676990",
          "Orphanet:100015",
          "UMLS:C5191422",
          "icd11.foundation:252327835"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015038"
    },
    {
      "id": 16015,
      "label": "lissencephaly with cerebellar hypoplasia type F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019736",
          "MEDGEN:902647",
          "Orphanet:100016",
          "SCTID:715822007",
          "UMLS:C4274989",
          "icd11.foundation:468664200"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015039"
    }
  ],
  "roots": [
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}