{
  "id": 18361,
  "label": "otopalatodigital syndrome spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018233",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19470,
      "label": "filamin-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019190",
          "MEDGEN:1842239",
          "Orphanet:93425",
          "UMLS:C5680280"
        ],
        "synonyms": [
          "bone filaminopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019690"
    }
  ],
  "children": [
    {
      "id": 11796,
      "label": "Melnick-Needles syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111788",
          "GARD:0007011",
          "ICD9:756.59",
          "MEDGEN:6292",
          "MedDRA:10060908",
          "NORD:1430",
          "OMIM:309350",
          "Orphanet:2484",
          "SCTID:13449007",
          "UMLS:C0025237"
        ],
        "synonyms": [
          "Melnick Needles Syndrome",
          "Melnick-Needles osteodysplasty",
          "Melnick-Needles syndrome",
          "Melnick-Needles syndrome, X-linked dominant",
          "MELNICK-NEEDLES syndrome",
          "MNS",
          "osteodysplasty of Melnick and Needles"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010650"
    },
    {
      "id": 16621,
      "label": "frontometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111785",
          "GARD:0000826",
          "ICD9:759.89",
          "MEDGEN:82703",
          "MESH:C538064",
          "OMIMPS:305620",
          "Orphanet:1826",
          "SCTID:62803002",
          "UMLS:C0265293",
          "icd11.foundation:1767187670"
        ],
        "synonyms": [
          "frontometaphyseal dysplasia",
          "FMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015942"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19470,
      "label": "filamin-related bone disorder"
    }
  ]
}