{
  "id": 24320,
  "label": "autosomal recessive syndromic intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100598",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive form of syndromic intellectual disability."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "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": 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"
    }
  ],
  "children": [
    {
      "id": 10254,
      "label": "Cohen syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16076,
        16087,
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111590",
          "GARD:0006126",
          "ICD9:759.89",
          "MEDGEN:78539",
          "MESH:C536438",
          "MedDRA:10049066",
          "NANDO:2200750",
          "NORD:986",
          "OMIM:216550",
          "Orphanet:193",
          "SCTID:56604005",
          "UMLS:C0265223",
          "icd11.foundation:1188737383"
        ],
        "synonyms": [
          "Cohen syndrome",
          "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness",
          "COH1",
          "Chs1",
          "Chs1, formerly",
          "Coh",
          "hypotonia, obesity, and prominent incisors",
          "pepper syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008999"
    },
    {
      "id": 15216,
      "label": "intellectual disability-hypotonia-spasticity-sleep disorder syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081202",
          "GARD:0017541",
          "MEDGEN:816002",
          "OMIM:615493",
          "Orphanet:356996",
          "UMLS:C3809672"
        ],
        "synonyms": [
          "intellectual disability, autosomal recessive type 37",
          "mental retardation, autosomal recessive type 37",
          "mental retardation, autosomal recessive, 37",
          "MRT37",
          "intellectual disability, autosomal recessive 37",
          "mental retardation, autosomal recessive 37"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014210"
    },
    {
      "id": 15817,
      "label": "intellectual disability, autosomal recessive 53",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16607,
        17977,
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017897",
          "MEDGEN:934761",
          "OMIM:616917",
          "Orphanet:488635",
          "UMLS:C4310794"
        ],
        "synonyms": [
          "GPIBD13",
          "MRT53",
          "PIGG-CDG",
          "congenital disorder of glycosylation due to PIGG deficiency",
          "early-onset epilepsy-intellectual disability-brain anomalies syndrome",
          "glycosylphosphatidylinositol biosynthesis defect 13",
          "intellectual developmental disorder, autosomal recessive 53",
          "intellectual disability, autosomal recessive 53",
          "intellectual disability, autosomal recessive type 53",
          "mental retardation, autosomal recessive 53",
          "mental retardation, autosomal recessive type 53"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014832"
    },
    {
      "id": 15923,
      "label": "short stature-brachydactyly-obesity-global developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        19473,
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017817",
          "MEDGEN:934656",
          "OMIM:617157",
          "Orphanet:464288",
          "UMLS:C4310689"
        ],
        "synonyms": [
          "SBIDDS",
          "short stature, brachydactyly, intellectual developmental disability, and seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014944"
    },
    {
      "id": 23322,
      "label": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        16437,
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017942",
          "MEDGEN:1375601",
          "OMIM:617452",
          "Orphanet:505237",
          "UMLS:C4479520"
        ],
        "synonyms": [
          "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies",
          "IDDFSDA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044319"
    },
    {
      "id": 23325,
      "label": "intellectual developmental disorder with neuropsychiatric features",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1379216",
          "OMIM:617532",
          "UMLS:C4479636"
        ],
        "synonyms": [
          "intellectual developmental disorder with neuropsychiatric features",
          "IDDNPF"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044322"
    },
    {
      "id": 23327,
      "label": "Al Kaissi syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025894",
          "MEDGEN:1611968",
          "OMIM:617694",
          "UMLS:C4540156"
        ],
        "synonyms": [
          "AL KAISSI syndrome",
          "ALKAS",
          "Growth retardation, spine malformation, dysmorphic facies, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044324"
    }
  ],
  "roots": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability"
    },
    {
      "id": 24319,
      "label": "intellectual disability, autosomal recessive"
    }
  ]
}