{
  "id": 16295,
  "label": "Coffin-Siris syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015452",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [
    {
      "id": 8983,
      "label": "Coffin-Siris syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16295,
        24515
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007617"
    },
    {
      "id": 14833,
      "label": "intellectual disability, autosomal dominant 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16295,
        24515
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013819"
    },
    {
      "id": 14834,
      "label": "intellectual disability, autosomal dominant 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16295,
        24515
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070045",
          "GARD:0015821",
          "MEDGEN:766162",
          "OMIM:614608",
          "UMLS:C3553248"
        ],
        "synonyms": [
          "COFFIN-SIRIS syndrome 3",
          "CSS3",
          "Coffin-Siris syndrome caused by mutation in SMARCB1",
          "MRD15",
          "SMARCB1 Coffin-Siris syndrome",
          "SMARCB1-related BAFopathy",
          "autosomal dominant intellectual disability 15",
          "intellectual disability, autosomal dominant 15",
          "intellectual disability, autosomal dominant type 15",
          "mental retardation, autosomal dominant type 15",
          "mental retardation, autosomal dominant 15"
        ],
        "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 SMARCB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013820"
    },
    {
      "id": 14835,
      "label": "intellectual disability, autosomal dominant 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16295,
        24515
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070046",
          "GARD:0015822",
          "MEDGEN:766163",
          "OMIM:614609",
          "UMLS:C3553249"
        ],
        "synonyms": [
          "COFFIN-SIRIS syndrome 4",
          "CSS4",
          "Coffin-Siris syndrome caused by mutation in SMARCA4",
          "MRD16",
          "SMARCA4 Coffin-Siris syndrome",
          "SMARCA4-related BAFopathy",
          "autosomal dominant intellectual disability 16",
          "intellectual disability, autosomal dominant 16",
          "intellectual disability, autosomal dominant type 16",
          "mental retardation, autosomal dominant type 16",
          "mental retardation, autosomal dominant 16"
        ],
        "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 SMARCA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013821"
    },
    {
      "id": 15378,
      "label": "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070057",
          "GARD:0016023",
          "MEDGEN:862965",
          "OMIM:615866",
          "UMLS:C4014528"
        ],
        "synonyms": [
          "CSS9",
          "Coffin-Siris syndrome 9",
          "MRD27",
          "autosomal dominant intellectual disability 27",
          "intellectual disability, autosomal dominant 27",
          "intellectual disability, autosomal dominant type 27",
          "mental retardation, autosomal dominant type 27",
          "autosomal dominant non-syndromic intellectual disability 27",
          "mental retardation, autosomal dominant 27"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014376"
    },
    {
      "id": 15822,
      "label": "Coffin-Siris syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16295,
        24515
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014838"
    },
    {
      "id": 21717,
      "label": "Coffin-Siris syndrome 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112370",
          "GARD:0016443",
          "MEDGEN:1782096",
          "OMIM:619325",
          "UMLS:C5444111"
        ],
        "synonyms": [
          "CSS12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0025699"
    },
    {
      "id": 22374,
      "label": "Coffin-Siris syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16295,
        24515
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112367",
          "GARD:0016347",
          "MEDGEN:1679527",
          "OMIM:618362",
          "UMLS:C5193054"
        ],
        "synonyms": [
          "SMARCC2-related BAFopathy",
          "COFFIN-SIRIS SYNDROME 8",
          "CSS8"
        ],
        "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 SMARCC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0032702"
    },
    {
      "id": 22448,
      "label": "Coffin-Siris syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112371",
          "GARD:0016358",
          "MEDGEN:1683634",
          "OMIM:618506",
          "UMLS:C4760583"
        ],
        "synonyms": [
          "COFFIN-SIRIS SYNDROME 10",
          "CSS10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032791"
    },
    {
      "id": 22564,
      "label": "Coffin-Siris syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112372",
          "GARD:0016379",
          "MEDGEN:1717402",
          "OMIM:618779",
          "UMLS:C5241442"
        ],
        "synonyms": [
          "COFFIN-SIRIS SYNDROME 11",
          "CSS11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032912"
    },
    {
      "id": 23635,
      "label": "Coffin-Siris syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112369",
          "GARD:0016287",
          "MEDGEN:1648281",
          "OMIM:618027",
          "UMLS:C4747954"
        ],
        "synonyms": [
          "COFFIN-SIRIS syndrome 7",
          "CSS7"
        ],
        "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 DPF2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0054831"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}