{
  "id": 8748,
  "label": "uveal coloboma-cleft lip and palate-intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007355",
  "properties": {
    "xrefs": [
      "DOID:0111249",
      "GARD:0001440",
      "MEDGEN:811762",
      "MESH:C535971",
      "OMIM:120433",
      "Orphanet:1473",
      "UMLS:C3805432"
    ],
    "synonyms": [
      "uveal coloboma-cleft lip and palate-intellectual disability",
      "COB1",
      "coloboma, cleft lip/palate and intellectual disability syndrome",
      "coloboma, cleft lip/palate and mental retardation syndrome",
      "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability",
      "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation",
      "coloboma-microphthalmos syndrome",
      "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate",
      "uveal coloboma-cleft lip/palate-intellectual disability syndrome",
      "uveal coloboma-cleft lip/palate-mental retardation syndrome"
    ],
    "definition": "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}