{
  "id": 29351,
  "label": "CASK-related intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060192",
  "properties": {
    "synonyms": [
      "CASK-related disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [
    {
      "id": 11488,
      "label": "FG syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4165,
        29351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:336965",
          "OMIM:300422",
          "UMLS:C1845546"
        ],
        "synonyms": [
          "CASK FG syndrome",
          "CASK-related FG syndrome",
          "FG syndrome 4",
          "FG syndrome caused by mutation in cask",
          "FG syndrome type 4",
          "FGS4",
          "cask FG syndrome",
          "mental retardation, X-linked, with or without Nystagmus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010318"
    },
    {
      "id": 11578,
      "label": "syndromic X-linked intellectual disability Najm type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19709,
        29351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060807",
          "GARD:0012669",
          "MEDGEN:437070",
          "MESH:C567466",
          "OMIM:300749",
          "Orphanet:163937",
          "UMLS:C2677903"
        ],
        "synonyms": [
          "MICPCH",
          "MICPCH syndrome",
          "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome",
          "intellectual disability and microcephaly with pontine and cerebellar hypoplasia",
          "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia",
          "mental retardation and microcephaly with pontine and cerebellar hypoplasia",
          "mental retardation, X-linked, syndromic, Najm type",
          "syndromic X-linked intellectual disability Najm type",
          "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia",
          "microcephaly with pontine and cerebellar hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010417"
    },
    {
      "id": 29352,
      "label": "X-linked intellectual disability with or without nystagmus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        29351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:476987",
          "UMLS:C3275356"
        ],
        "synonyms": [
          "XLID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An X-linked intelelctual disability in which the cause of the disease is hypomorphic CASK pathogenic variants. Affected individuals present with intellectual disability with or without congenital nystagmus. Additional features often include epilepsy, speech impairment, motor delay, and variable brain malformations. Phenotypic severity ranges from mild cognitive impairment to severe developmental disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060193"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}