{
  "id": 10189,
  "label": "COFS syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008926",
  "properties": {
    "xrefs": [
      "DOID:0080910",
      "GARD:0006027",
      "MEDGEN:1762238",
      "NCIT:C3817",
      "NORD:913",
      "OMIMPS:214150",
      "Orphanet:1466",
      "UMLS:C5399761"
    ],
    "synonyms": [
      "COFS",
      "Cerebro Oculo Facio Skeletal Syndrome",
      "Pena-Shokeir syndrome type 2",
      "cerebro-oculo-facio-skeletal syndrome",
      "cerebrooculofacioskeletal syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    },
    {
      "id": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    }
  ],
  "children": [
    {
      "id": 10214,
      "label": "cerebrooculofacioskeletal syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080911",
          "GARD:0015150",
          "MEDGEN:66320",
          "NCIT:C173085",
          "OMIM:214150",
          "UMLS:C0220722"
        ],
        "synonyms": [
          "COFS syndrome",
          "COFS syndrome caused by mutation in ERCC6",
          "COFS1",
          "ERCC6 COFS syndrome",
          "cerebrooculofacioskeletal syndrome 1",
          "cerebrooculofacioskeletal syndrome type 1",
          "Pena-Shokeir syndrome, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008955"
    },
    {
      "id": 11394,
      "label": "xeroderma pigmentosum group G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10189,
        16889,
        19395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110849",
          "GARD:0005629",
          "MEDGEN:75657",
          "MESH:C562593",
          "NCIT:C3969",
          "OMIM:278780",
          "Orphanet:276267",
          "SCTID:36454001",
          "UMLS:C0268141"
        ],
        "synonyms": [
          "ERCC5 xeroderma pigmentosum",
          "XP-G",
          "XP7",
          "XPG",
          "xeroderma pigmentosum caused by mutation in ERCC5",
          "xeroderma pigmentosum group G",
          "xeroderma pigmentosum group type G",
          "xeroderma pigmentosum, complementation group type G",
          "xeroderma pigmentosum, group G",
          "xeroderma pigmentosum, group G/Cockayne syndrome",
          "XP, Group G",
          "xeroderma pigmentosum 7",
          "xeroderma pigmentosum complementation group G",
          "xeroderma pigmentosum type 7",
          "xeroderma pigmentosum, complementation group G",
          "xeroderma pigmentosum, type G/Cockayne syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010216"
    },
    {
      "id": 13601,
      "label": "cerebrooculofacioskeletal syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080912",
          "GARD:0015497",
          "MEDGEN:342799",
          "MESH:C565185",
          "OMIM:610756",
          "UMLS:C1853102"
        ],
        "synonyms": [
          "COFS syndrome caused by mutation in ERCC2",
          "COFS2",
          "ERCC2 COFS syndrome",
          "cerebrooculofacioskeletal syndrome 2",
          "cerebrooculofacioskeletal syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012553"
    },
    {
      "id": 13602,
      "label": "cerebrooculofacioskeletal syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080914",
          "GARD:0015498",
          "MEDGEN:342798",
          "MESH:C565184",
          "NCIT:C173104",
          "OMIM:610758",
          "UMLS:C1853100"
        ],
        "synonyms": [
          "COFS syndrome caused by mutation in ERCC1",
          "COFS4",
          "ERCC1 COFS syndrome",
          "cerebrooculofacioskeletal syndrome 4",
          "cerebrooculofacioskeletal syndrome type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012554"
    },
    {
      "id": 15690,
      "label": "cerebrooculofacioskeletal syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080913",
          "GARD:0016140",
          "MEDGEN:342008",
          "MESH:C565035",
          "OMIM:616570",
          "UMLS:C1851443"
        ],
        "synonyms": [
          "COFS3",
          "cerebrooculofacioskeletal syndrome 3",
          "cerebrooculofacioskeletal syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014696"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    }
  ]
}