{
  "id": 11847,
  "label": "otopalatodigital syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010704",
  "properties": {
    "xrefs": [
      "DOID:0111783",
      "GARD:0005121",
      "ICD9:759.89",
      "MEDGEN:78542",
      "NCIT:C118845",
      "OMIM:311300",
      "Orphanet:90650",
      "SCTID:54036001",
      "UMLS:C0265251",
      "icd11.foundation:1442049882"
    ],
    "synonyms": [
      "OPD 1 syndrome",
      "OPD I syndrome",
      "OPD syndrome 1",
      "OPD1",
      "Taybi syndrome",
      "oto-palato-digital syndrome type 1",
      "otopalatodigital syndrome, type 1",
      "otopalatodigital syndrome, type I",
      "otopalatodigital syndrome, type I, X-linked dominant",
      "OPD syndrome",
      "frontootopalatodigital osteodysplasia",
      "otopalatodigital spectrum disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18940,
      "label": "otopalatodigital syndrome"
    }
  ]
}