{
  "id": 11728,
  "label": "syndromic X-linked intellectual disability 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010574",
  "properties": {
    "xrefs": [
      "DOID:0060800",
      "GARD:0008520",
      "MEDGEN:162924",
      "NCIT:C124839",
      "OMIM:304340",
      "Orphanet:1568",
      "Orphanet:85329",
      "SCTID:719139003",
      "UMLS:C0796254"
    ],
    "synonyms": [
      "MRX59",
      "MRXS21",
      "Pettigrew syndrome",
      "Pettigrew syndrome, X-linked recessive",
      "X-linked intellectual disability 59",
      "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome",
      "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome",
      "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome",
      "intellectual disability, X-linked syndromic 5",
      "syndromic X-linked intellectual disability 21",
      "syndromic X-linked intellectual disability fried type",
      "syndromic X-linked intellectual disability type 5",
      "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures",
      "MRXS5",
      "PETTIGREW syndrome",
      "PGS",
      "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures",
      "fried syndrome",
      "intellectual disability X-linked syndromic 5",
      "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures",
      "intellectual disability, X-linked 59",
      "intellectual disability, X-linked, syndromic 21",
      "intellectual disability, X-linked, syndromic 5",
      "intellectual disability, X-linked, syndromic, fried type",
      "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures",
      "mental retardation X-linked syndromic 5",
      "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures",
      "mental retardation, X-linked 59",
      "mental retardation, X-linked, syndromic 21",
      "mental retardation, X-linked, syndromic 5",
      "mental retardation, X-linked, syndromic, fried type",
      "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": 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": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}