{
  "id": 14833,
  "label": "intellectual disability, autosomal dominant 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013819",
  "properties": {
    "xrefs": [
      "DOID:0070044",
      "GARD:0015820",
      "MEDGEN:766161",
      "OMIM:614607",
      "UMLS:C3553247"
    ],
    "synonyms": [
      "ARID1A Coffin-Siris syndrome",
      "ARID1A-related BAFopathy",
      "CSS2",
      "Coffin-Siris syndrome caused by mutation in ARID1A",
      "MRD14",
      "autosomal dominant intellectual disability 14",
      "intellectual disability, autosomal dominant 14",
      "intellectual disability, autosomal dominant type 14",
      "mental retardation, autosomal dominant type 14",
      "COFFIN-SIRIS syndrome 2",
      "Coffin-Siris syndrome 2",
      "mental retardation, autosomal dominant 14"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16295,
      "label": "Coffin-Siris syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        6893,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1925",
          "GARD:0006124",
          "ICD9:759.89",
          "MEDGEN:75565",
          "MESH:C536436",
          "NANDO:1200670",
          "NANDO:2200977",
          "NCIT:C35321",
          "NORD:984",
          "OMIMPS:135900",
          "Orphanet:1465",
          "SCTID:10007009",
          "UMLS:C0265338",
          "icd11.foundation:734451870"
        ],
        "synonyms": [
          "CSS",
          "Coffin-Siris syndrome",
          "intellectual disability with absent fifth fingernail and terminal phalanx"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations."
      },
      "child_count": 44,
      "reference_id": "MONDO:0015452"
    },
    {
      "id": 24515,
      "label": "BAFopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Disorder caused by mutations in the various subunits composing the BAF complex."
      },
      "child_count": 15,
      "reference_id": "MONDO:0700120"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16295,
      "label": "Coffin-Siris syndrome"
    },
    {
      "id": 24515,
      "label": "BAFopathy"
    }
  ]
}