{
  "id": 23914,
  "label": "intellectual disability, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100172",
  "properties": {
    "xrefs": [
      "OMIMPS:156200"
    ],
    "synonyms": [
      "mental retardation, autosomal dominant",
      "autosomal dominant intellectual disability"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 29,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 3324,
      "label": "intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001071"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 9302,
      "label": "intellectual disability, autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070031",
          "GARD:0018623",
          "MEDGEN:409857",
          "MESH:C566947",
          "NCIT:C141424",
          "OMIM:156200",
          "UMLS:C1969562"
        ],
        "synonyms": [
          "MBD5 autosomal dominant non-syndromic intellectual disability",
          "MRD1",
          "autosomal dominant intellectual disability 1",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5",
          "intellectual disability, autosomal dominant 1",
          "intellectual disability, autosomal dominant type 1",
          "mental retardation, autosomal dominant type 1",
          "autosomal dominant non-syndromic intellectual disability 1",
          "chromosome 2Q23.1 deletion syndrome",
          "mental retardation, autosomal dominant 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007974"
    },
    {
      "id": 13986,
      "label": "intellectual disability, autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070033",
          "GARD:0016454",
          "MEDGEN:436447",
          "MESH:C567241",
          "OMIM:612580",
          "UMLS:C2675488"
        ],
        "synonyms": [
          "CDH15 autosomal dominant non-syndromic intellectual disability",
          "MRD3",
          "autosomal dominant intellectual disability 3",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15",
          "intellectual disability, autosomal dominant 3",
          "intellectual disability, autosomal dominant type 3",
          "mental retardation, autosomal dominant type 3",
          "autosomal dominant non-syndromic intellectual disability 3",
          "mental retardation, autosomal dominant 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012946"
    },
    {
      "id": 13987,
      "label": "intellectual disability, autosomal dominant 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070034",
          "GARD:0016455",
          "MEDGEN:393397",
          "MESH:C567240",
          "OMIM:612581",
          "UMLS:C2675487"
        ],
        "synonyms": [
          "KIRREL3 autosomal dominant non-syndromic intellectual disability",
          "MRD4",
          "autosomal dominant intellectual disability 4",
          "intellectual disability, autosomal dominant 4",
          "intellectual disability, autosomal dominant type 4",
          "mental retardation, autosomal dominant type 4",
          "autosomal dominant non-syndromic intellectual disability 4",
          "mental retardation, autosomal dominant 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012947"
    },
    {
      "id": 14000,
      "label": "intellectual disability, autosomal dominant 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724,
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070035",
          "GARD:0012558",
          "MEDGEN:382611",
          "MESH:C567234",
          "OMIM:612621",
          "Orphanet:544254",
          "UMLS:C2675473"
        ],
        "synonyms": [
          "MRD5",
          "SYNGAP1 autosomal dominant non-syndromic intellectual disability",
          "SYNGAP1-related developmental and epileptic encephalopathy",
          "autosomal dominant intellectual disability 5",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1",
          "epilepsy due to SYNGAP mutations",
          "intellectual disability, autosomal dominant 5",
          "intellectual disability, autosomal dominant type 5",
          "mental retardation, autosomal dominant type 5",
          "SYNGAP1 gene mutation linked to intellectual disability, schizophrenia and autism",
          "SYNGAP1 syndrome",
          "SYNGAP1-related NSID",
          "SYNGAP1-related non-syndromic intellectual disability",
          "autosomal dominant non-syndromic intellectual disability 5",
          "mental retardation, autosomal dominant 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012960"
    },
    {
      "id": 14539,
      "label": "intellectual disability, autosomal dominant 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        24724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070036",
          "GARD:0012851",
          "MEDGEN:462761",
          "OMIM:613970",
          "Orphanet:589547",
          "UMLS:C3151411"
        ],
        "synonyms": [
          "GRIN2B encephalopathy",
          "GRIN2B-related neurodevelopmental disorder",
          "GRIN2B autosomal dominant non-syndromic intellectual disability",
          "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",
          "MRD6",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B",
          "intellectual developmental disorder, autosomal dominant 6, with or without seizures",
          "intellectual disability, autosomal dominant 6",
          "intellectual disability, autosomal dominant type 6",
          "mental retardation, autosomal dominant type 6",
          "mental retardation, autosomal dominant 6",
          "mental retardation, autosomal dominant 6, with or without seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013509"
    },
    {
      "id": 14609,
      "label": "intellectual disability, autosomal dominant 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070032",
          "GARD:0016458",
          "MEDGEN:481472",
          "OMIM:614113",
          "UMLS:C3279842"
        ],
        "synonyms": [
          "DOCK8 autosomal dominant non-syndromic intellectual disability",
          "MRD2",
          "autosomal dominant intellectual disability 2",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8",
          "intellectual disability, autosomal dominant 2",
          "intellectual disability, autosomal dominant type 2",
          "mental retardation, autosomal dominant type 2",
          "autosomal dominant non-syndromic intellectual disability 2",
          "mental retardation, autosomal dominant 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013581"
    },
    {
      "id": 14679,
      "label": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        29306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070038",
          "GARD:0013686",
          "MEDGEN:481912",
          "OMIM:614254",
          "UMLS:C3280282"
        ],
        "synonyms": [
          "GRIN1 autosomal dominant non-syndromic intellectual disability",
          "MRD8",
          "NDHMSD",
          "autosomal dominant intellectual disability 8",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1",
          "intellectual disability, autosomal dominant 8",
          "intellectual disability, autosomal dominant type 8",
          "mental retardation, autosomal dominant 8",
          "mental retardation, autosomal dominant 8, formerly",
          "mental retardation, autosomal dominant type 8",
          "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",
          "autosomal dominant non-syndromic intellectual disability 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013655"
    },
    {
      "id": 14680,
      "label": "intellectual disability, autosomal dominant 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        24451
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070039",
          "GARD:0016459",
          "MEDGEN:1714250",
          "NCIT:C133742",
          "OMIM:614255",
          "Orphanet:662367",
          "UMLS:C5393830"
        ],
        "synonyms": [
          "KIF1A autosomal dominant non-syndromic intellectual disability",
          "MRD9",
          "NESCAV syndrome",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A",
          "intellectual disability, autosomal dominant 9",
          "intellectual disability, autosomal dominant type 9",
          "mental retardation, autosomal dominant type 9",
          "autosomal dominant non-syndromic intellectual disability 9",
          "mental retardation, autosomal dominant 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013656"
    },
    {
      "id": 14681,
      "label": "intellectual disability, autosomal dominant 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070040",
          "GARD:0016460",
          "MEDGEN:481914",
          "OMIM:614256",
          "UMLS:C3280284"
        ],
        "synonyms": [
          "CACNG2 autosomal dominant non-syndromic intellectual disability",
          "MRD10",
          "autosomal dominant intellectual disability 10",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2",
          "intellectual disability, autosomal dominant 10",
          "intellectual disability, autosomal dominant type 10",
          "mental retardation, autosomal dominant type 10",
          "autosomal dominant non-syndromic intellectual disability 10",
          "mental retardation, autosomal dominant 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013657"
    },
    {
      "id": 14682,
      "label": "intellectual disability, autosomal dominant 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070041",
          "GARD:0016461",
          "MEDGEN:481915",
          "OMIM:614257",
          "UMLS:C3280285"
        ],
        "synonyms": [
          "EPB41L1 autosomal dominant non-syndromic intellectual disability",
          "MRD11",
          "autosomal dominant intellectual disability 11",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1",
          "intellectual developmental disorder, autosomal dominant 11",
          "intellectual disability, autosomal dominant 11",
          "intellectual disability, autosomal dominant type 11",
          "mental retardation, autosomal dominant type 11",
          "autosomal dominant non-syndromic intellectual disability 11",
          "mental retardation, autosomal dominant 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013658"
    },
    {
      "id": 15359,
      "label": "intellectual disability, autosomal dominant 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        25031
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070054",
          "GARD:0016467",
          "MEDGEN:862851",
          "OMIM:615828",
          "UMLS:C4014414"
        ],
        "synonyms": [
          "DEAF1 autosomal dominant non-syndromic intellectual disability",
          "MRD24",
          "autosomal dominant intellectual disability 24",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1",
          "intellectual disability, autosomal dominant 24",
          "intellectual disability, autosomal dominant type 24",
          "mental retardation, autosomal dominant type 24",
          "autosomal dominant non-syndromic intellectual disability 24",
          "mental retardation, autosomal dominant 24"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014357"
    },
    {
      "id": 15613,
      "label": "intellectual disability, autosomal dominant 38",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070068",
          "GARD:0016469",
          "MEDGEN:895359",
          "OMIM:616393",
          "UMLS:C4225343"
        ],
        "synonyms": [
          "EEF1A2 autosomal dominant non-syndromic intellectual disability",
          "MRD38",
          "PRELDS",
          "autosomal dominant intellectual disability 38",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2",
          "intellectual disability, autosomal dominant 38",
          "intellectual disability, autosomal dominant type 38",
          "mental retardation, autosomal dominant type 38",
          "psychomotor retardation, epilepsy, and language disability syndrome",
          "autosomal dominant non-syndromic intellectual disability 38",
          "mental retardation, autosomal dominant 38"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014617"
    },
    {
      "id": 15673,
      "label": "intellectual disability, autosomal dominant 39",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070069",
          "GARD:0027861",
          "MEDGEN:909304",
          "OMIM:616521",
          "UMLS:C4225296"
        ],
        "synonyms": [
          "MRD39",
          "MYT1L autosomal dominant non-syndromic intellectual disability",
          "autosomal dominant intellectual disability 39",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L",
          "intellectual developmental disorder, autosomal dominant 39",
          "intellectual disability, autosomal dominant 39",
          "intellectual disability, autosomal dominant type 39",
          "mental retardation, autosomal dominant type 39",
          "mental retardation, autosomal dominant 39"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014678"
    },
    {
      "id": 15693,
      "label": "intellectual disability, autosomal dominant 40",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070070",
          "GARD:0013539",
          "MEDGEN:1810363",
          "OMIM:616579",
          "Orphanet:692193",
          "UMLS:C5676894"
        ],
        "synonyms": [
          "CHAMP1 autosomal dominant non-syndromic intellectual disability",
          "MRD40",
          "autosomal dominant intellectual disability 40",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1",
          "intellectual disability, autosomal dominant 40",
          "intellectual disability, autosomal dominant type 40",
          "mental retardation, autosomal dominant type 40",
          "autosomal dominant non-syndromic intellectual disability 40",
          "mental retardation, autosomal dominant 40"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014699"
    },
    {
      "id": 15837,
      "label": "intellectual disability, autosomal dominant 42",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070072",
          "GARD:0018501",
          "MEDGEN:934741",
          "OMIM:616973",
          "Orphanet:488613",
          "UMLS:C4310774"
        ],
        "synonyms": [
          "GNB1-related disorder",
          "GNB1-related neurodevelopmental disorder",
          "MRD42",
          "autosomal dominant intellectual disability 42",
          "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome",
          "intellectual developmental disorder, autosomal dominant 42",
          "intellectual disability, autosomal dominant 42",
          "intellectual disability, autosomal dominant type 42",
          "mental retardation, autosomal dominant 42",
          "mental retardation, autosomal dominant type 42",
          "GNB1 autosomal dominant non-syndromic intellectual disability",
          "autosomal dominant non-syndromic intellectual disability 42",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014855"
    },
    {
      "id": 16555,
      "label": "autosomal dominant non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060307",
          "GARD:0012107",
          "MEDGEN:1826082",
          "Orphanet:178469",
          "UMLS:C5680502"
        ],
        "synonyms": [
          "autosomal dominant mental retardation",
          "autosomal dominant non-syndromic intellectual disability",
          "non-syndromic intellectual disability, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of non-syndromic intellectual disability."
      },
      "child_count": 52,
      "reference_id": "MONDO:0015802"
    },
    {
      "id": 21258,
      "label": "intellectual developmental disorder, autosomal dominant 65",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061038",
          "GARD:0018547",
          "MEDGEN:1787923",
          "OMIM:619320",
          "UMLS:C5543371"
        ],
        "synonyms": [
          "MRD65",
          "mental retardation, autosomal dominant 65"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023657"
    },
    {
      "id": 21791,
      "label": "intellectual developmental disorder, autosomal dominant 69",
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}