{
  "id": 14606,
  "label": "DYRK1A-related intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013578",
  "properties": {
    "xrefs": [
      "DOID:0070037",
      "GARD:0013527",
      "MEDGEN:1799566",
      "OMIM:614104",
      "Orphanet:464306",
      "UMLS:C5568143"
    ],
    "synonyms": [
      "MRD7",
      "autosomal dominant intellectual disability 7",
      "intellectual disability, autosomal dominant type 7",
      "mental retardation, autosomal dominant type 7",
      "autosomal dominant non-syndromic intellectual disability 7",
      "intellectual disability, autosomal dominant 7",
      "mental retardation, autosomal dominant 7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    }
  ],
  "children": [
    {
      "id": 17438,
      "label": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14606,
        17337
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020947",
          "MEDGEN:1673021",
          "Orphanet:268261",
          "UMLS:C5191008"
        ],
        "synonyms": [
          "21q22.13-q22.2 microdeletion syndrome",
          "21q22.13q22.2 microdeletion syndrome",
          "Del(21)(q22.13q22.2)",
          "monosomy 21q22.13-q22.2",
          "monosomy 21q22.13q22.2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017056"
    },
    {
      "id": 18703,
      "label": "intellectual disability syndrome due to a DYRK1A point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14606
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021926",
          "MEDGEN:1826160",
          "Orphanet:464311",
          "UMLS:C5679991"
        ],
        "synonyms": [
          "DYRK1A-related intellectual disability syndrome due to a point mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018733"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability"
    }
  ]
}