{
  "id": 11725,
  "label": "otopalatodigital syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010571",
  "properties": {
    "xrefs": [
      "DOID:0111784",
      "GARD:0005802",
      "ICD9:759.89",
      "MEDGEN:337064",
      "MESH:C538089",
      "NORD:1539",
      "OMIM:304120",
      "Orphanet:90652",
      "SCTID:42432003",
      "UMLS:C1844696",
      "icd11.foundation:1897308206"
    ],
    "synonyms": [
      "OPD 2 syndrome",
      "OPD II syndrome",
      "OPD syndrome 2",
      "Otopalatodigital Syndrome Type I and II",
      "otopalatodigital syndrome, type II, X-linked dominant",
      "Andre syndrome",
      "FPO",
      "OPD2",
      "cranio-oro-digital syndrome",
      "cranioorodigital syndrome",
      "faciopalatoosseous syndrome",
      "oto-palato-digital syndrome type 2",
      "otopalatodigital syndrome, type 2",
      "otopalatodigital syndrome, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18940,
      "label": "otopalatodigital syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007293",
          "MEDGEN:1843451",
          "Orphanet:669",
          "SCTID:767130007",
          "UMLS:C5779873",
          "icd11.foundation:1506946342"
        ],
        "synonyms": [
          "oto-palatal-digital syndrome",
          "oto-palato-digital syndrome",
          "type 2 (Andre syndrome)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019027"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18940,
      "label": "otopalatodigital syndrome"
    }
  ]
}