{
  "id": 8983,
  "label": "Coffin-Siris syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007617",
  "properties": {
    "xrefs": [
      "DOID:0070042",
      "GARD:0015072",
      "MEDGEN:482831",
      "MESH:C538391",
      "OMIM:135900",
      "OMIM:609943",
      "OMIM:614562",
      "UMLS:C3281201"
    ],
    "synonyms": [
      "fifth digit syndrome",
      "ARID1B-related BAFopathy",
      "COFFIN-SIRIS syndrome 1",
      "CSS1",
      "Coffin-Siris syndrome 1",
      "MRD12",
      "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features",
      "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features",
      "intellectual disability, autosomal dominant 12",
      "mental retardation, autosomal dominant type 12",
      "COFFIN-SIRIS syndrome",
      "CSS",
      "mental retardation, autosomal dominant 12"
    ],
    "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 ARID1B 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"
    }
  ]
}