{
  "id": 15822,
  "label": "Coffin-Siris syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014838",
  "properties": {
    "xrefs": [
      "DOID:0112368",
      "GARD:0016170",
      "MEDGEN:934755",
      "OMIM:616938",
      "UMLS:C4310788"
    ],
    "synonyms": [
      "Coffin-Siris syndrome 5",
      "Coffin-Siris syndrome caused by mutation in SMARCE1",
      "Coffin-Siris syndrome type 5",
      "SMARCE1 Coffin-Siris syndrome",
      "COFFIN-SIRIS syndrome 5",
      "CSS5"
    ],
    "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 SMARCE1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 16295,
      "label": "Coffin-Siris syndrome"
    },
    {
      "id": 24515,
      "label": "BAFopathy"
    }
  ]
}