{
  "id": 18940,
  "label": "otopalatodigital syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019027",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18361,
      "label": "otopalatodigital syndrome spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111782",
          "GARD:0021570",
          "MEDGEN:411701",
          "Orphanet:364541",
          "UMLS:C2748918"
        ],
        "synonyms": [
          "OPD spectrum disorder",
          "OPSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018233"
    }
  ],
  "children": [
    {
      "id": 11725,
      "label": "otopalatodigital syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18940
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010571"
    },
    {
      "id": 11847,
      "label": "otopalatodigital syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18940
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010704"
    }
  ],
  "roots": [
    {
      "id": 18361,
      "label": "otopalatodigital syndrome spectrum disorder"
    }
  ]
}