{
  "id": 19470,
  "label": "filamin-related bone disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019690",
  "properties": {
    "xrefs": [
      "GARD:0019190",
      "MEDGEN:1842239",
      "Orphanet:93425",
      "UMLS:C5680280"
    ],
    "synonyms": [
      "bone filaminopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 9331,
      "label": "cardiospondylocarpofacial syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002362",
          "MEDGEN:444060",
          "MESH:C563572",
          "NCIT:C188216",
          "OMIM:157800",
          "Orphanet:3238",
          "SCTID:720612000",
          "UMLS:C2931461"
        ],
        "synonyms": [
          "Forney syndrome",
          "Forney-Robinson-Pascoe syndrome",
          "cardiospondylocarpofacial syndrome",
          "mitral regurgitation-deafness-skeletal anomalies syndrome",
          "CSCF",
          "Forney Robinson Pascoe syndrome",
          "congenital heart disease, deafness, and skeletal malformations",
          "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008005"
    },
    {
      "id": 10800,
      "label": "Frank-Ter Haar syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111789",
          "GARD:0005138",
          "MEDGEN:383652",
          "MESH:C536577",
          "MESH:C537274",
          "OMIM:211170",
          "OMIM:249420",
          "Orphanet:137834",
          "SCTID:720958002",
          "UMLS:C1855305",
          "icd11.foundation:1643548765"
        ],
        "synonyms": [
          "Borrone Dermatocardioskeletal syndrome",
          "Borrone di Rocco Crovato syndrome",
          "Frank-Ter Haar syndrome",
          "Ter Haar syndrome",
          "Borrone dermatocardioskeletal syndrome",
          "FRANK-TER Haar syndrome",
          "FTHS",
          "Frank Ter Haar syndrome",
          "Melnick-Needles syndrome, autosomal recessive",
          "Melnick-Needles syndrome, autosomal recessive, formerly",
          "autosomal recessive Melnick-Needles syndrome (formerly)",
          "megalocornea, multiple skeletal anomalies, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009579"
    },
    {
      "id": 11281,
      "label": "spondylocarpotarsal synostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7153,
        19470,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090116",
          "GARD:0004974",
          "ICD9:758.89",
          "MEDGEN:341339",
          "MESH:C535780",
          "OMIM:272460",
          "Orphanet:3275",
          "SCTID:702351004",
          "UMLS:C1848934"
        ],
        "synonyms": [
          "SCT",
          "Synspondylism",
          "spondylocarpotarsal syndrome",
          "spondylocarpotarsal synostosis",
          "spondylocarpotarsal synostosis syndrome",
          "vertebral fusion with carpal coalition",
          "Synspondylism congenital",
          "Synspondylism, congenital",
          "scoliosis, congenital with unilateral unsegmented bar",
          "scoliosis, congenital, with unilateral unsegmented Bar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010094"
    },
    {
      "id": 11452,
      "label": "terminal osseous dysplasia-pigmentary defects syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19470,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112149",
          "GARD:0016769",
          "MEDGEN:335344",
          "MESH:C564554",
          "OMIM:300244",
          "Orphanet:88630",
          "UMLS:C1846129"
        ],
        "synonyms": [
          "terminal osseous dysplasia, X-linked dominant",
          "Odpd",
          "Odpf syndrome",
          "TOD",
          "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula",
          "terminal osseous dysplasia",
          "terminal osseous dysplasia and pigmentary defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010279"
    },
    {
      "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"
    },
    {
      "id": 29336,
      "label": "FLNB-associated autosomal dominant filamin related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028175"
        ],
        "synonyms": [
          "FLNB-associated autosomal dominant filamin related bone disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060173"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}