{
  "id": 3324,
  "label": "intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001071",
  "properties": {
    "xrefs": [
      "DOID:1059",
      "ICD10CM:F70-F79",
      "ICD9:319",
      "MEDGEN:811461",
      "MESH:D008607",
      "NCIT:C97250",
      "Orphanet:319658",
      "SCTID:91138005",
      "UMLS:C3714756",
      "icd11.foundation:605267007"
    ],
    "synonyms": [
      "intellectual disabilities",
      "intellectual disability"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 24488,
      "label": "neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0010642",
          "MEDGEN:453059",
          "MESH:D065886",
          "MedDRA:10064062",
          "NCIT:C89338",
          "SCTID:700364009",
          "UMLS:C1535926"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
      },
      "child_count": 18,
      "reference_id": "MONDO:0700092"
    }
  ],
  "children": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050888",
          "MEDGEN:1842178",
          "UMLS:C5680525"
        ],
        "synonyms": [
          "syndrome associated with intellectual disability",
          "syndromic intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A intellectual disability that is part of a larger syndrome."
      },
      "child_count": 34,
      "reference_id": "MONDO:0000508"
    },
    {
      "id": 2962,
      "label": "non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050889"
        ],
        "synonyms": [
          "isolated intellectual disability",
          "nonsyndromic intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An intellectual disability that is not part of a larger syndrome."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000509"
    },
    {
      "id": 22280,
      "label": "intellectual developmental disorder and retinitis pigmentosa; IDDRP",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016306",
          "MEDGEN:1648358",
          "OMIM:618195",
          "UMLS:C4748658"
        ],
        "synonyms": [
          "IDDRP",
          "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032594"
    },
    {
      "id": 23908,
      "label": "PPP2R1A-related intellectual disability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027993"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100166"
    },
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:156200"
        ],
        "synonyms": [
          "mental retardation, autosomal dominant",
          "autosomal dominant intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 87,
      "reference_id": "MONDO:0100172"
    },
    {
      "id": 24021,
      "label": "X-linked intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:211749",
          "UMLS:C1136249"
        ],
        "synonyms": [
          "X-linked intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100284"
    },
    {
      "id": 24319,
      "label": "intellectual disability, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        7611,
        24226
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses, caused by an autosomal recessive genetic disorder."
      },
      "child_count": 9,
      "reference_id": "MONDO:0100597"
    },
    {
      "id": 25059,
      "label": "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3324,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027073"
        ],
        "synonyms": [
          "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800475"
    },
    {
      "id": 25061,
      "label": "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800477"
    },
    {
      "id": 26180,
      "label": "intellectual developmental disorder with polymicrogyria and seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1875065",
          "OMIM:621021",
          "UMLS:C5975535"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976124"
    }
  ],
  "roots": [
    {
      "id": 24488,
      "label": "neurodevelopmental disorder"
    }
  ]
}