{
  "id": 17289,
  "label": "Okihiro syndrome due to a point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016864",
  "properties": {
    "xrefs": [
      "GARD:0020788",
      "MEDGEN:1842838",
      "Orphanet:261647",
      "UMLS:C5679683"
    ],
    "synonyms": [
      "Duane-radial ray syndrome due to a point mutation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12893,
      "label": "Duane-radial ray syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        18362,
        18956,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060747",
          "GARD:0009182",
          "ICD9:759.89",
          "MEDGEN:301647",
          "OMIM:607323",
          "Orphanet:93293",
          "Orphanet:959",
          "SCTID:699867001",
          "SCTID:720415006",
          "UMLS:C1623209"
        ],
        "synonyms": [
          "DR syndrome",
          "DRRS",
          "Duane anomaly with radial ray abnormalities and deafness",
          "Duane-radial ray syndrome",
          "Okihiro syndrome",
          "acro-renal-ocular syndrome",
          "Duane anomaly with radial abnormalities and deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant."
      },
      "child_count": 10,
      "reference_id": "MONDO:0011812"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12893,
      "label": "Duane-radial ray syndrome"
    }
  ]
}