{
  "id": 11578,
  "label": "syndromic X-linked intellectual disability Najm type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010417",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 29351,
      "label": "CASK-related intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:1060192"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 29351,
      "label": "CASK-related intellectual disability"
    }
  ]
}