{
  "id": 10804,
  "label": "blepharophimosis - intellectual disability syndrome, Ohdo type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009583",
  "properties": {
    "xrefs": [
      "GARD:0003348",
      "ICD9:374.89",
      "ICD9:525.8",
      "MEDGEN:162905",
      "OMIM:249620",
      "Orphanet:2728",
      "SCTID:412787009",
      "UMLS:C0796094"
    ],
    "synonyms": [
      "BMRS, Ohdo type",
      "Ohdo syndrome",
      "Ohdo-Madokoro-Sonoda syndrome",
      "blepharophimosis syndrome, Ohdo type",
      "Ohdo blepharophimosis syndrome",
      "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth",
      "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth"
    ],
    "definition": "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3111,
      "label": "Ohdo syndrome and variants",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060289",
          "GARD:0022821"
        ],
        "synonyms": [
          "Ohdo blepharophimosis syndrome",
          "Ohdo syndrome"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000734"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3111,
      "label": "Ohdo syndrome and variants"
    }
  ]
}