{
  "id": 7153,
  "label": "bone development disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005497",
  "properties": {
    "xrefs": [
      "DOID:0080006",
      "EFO:0005541",
      "MEDGEN:2309",
      "SCTID:371521007",
      "UMLS:C0005941"
    ],
    "synonyms": [
      "bone development disease",
      "bone development disease or disorder",
      "disease of bone development",
      "disease or disorder of bone development",
      "disorder of bone development"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A disease involving the bone development."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 7061,
      "label": "bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080001",
          "EFO:0004260",
          "ICD10CM:M80-M85",
          "ICD9:731.8",
          "ICD9:733.99",
          "MEDGEN:14182",
          "MESH:D001847",
          "NANDO:2100291",
          "NANDO:2100293",
          "SCTID:76069003",
          "UMLS:C0005940"
        ],
        "synonyms": [
          "bone element disease",
          "bone element disease or disorder",
          "disease of bone element",
          "disease or disorder of bone element",
          "disorder of bone element",
          "rare bone disease related to a common gene or pathway defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diseases of bones."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005381"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 2749,
      "label": "developmental dysplasia of the hip",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060930",
          "EFO:1000648",
          "ICD9:755.63",
          "MEDGEN:1640560",
          "MESH:D000082602",
          "OMIMPS:142700",
          "SCTID:52781008",
          "UMLS:C4551649"
        ],
        "synonyms": [
          "congenital hip dysplasia",
          "congenital acetabular dysplasia",
          "congenital dysplasia of the hip",
          "dysplasia of acetabulum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000158"
    },
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 9811,
      "label": "brachydactyly-elbow wrist dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000966",
          "MEDGEN:396103",
          "MESH:C566090",
          "OMIM:186550",
          "Orphanet:1275",
          "SCTID:764437006",
          "UMLS:C1861313"
        ],
        "synonyms": [
          "Liebenberg syndrome",
          "brachydactyly-joint dysplasia syndrome",
          "LBNBG",
          "LIEBENBERG syndrome",
          "brachydactyly elbow wrist dysplasia",
          "brachydactyly with Joint dysplasia",
          "brachydactyly with joint dysplasia",
          "carpal synostosis with dysplastic elbow joints and brachydactyly",
          "synostosis, carpal, with dysplastic elbow joints and brachydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008520"
    },
    {
      "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": 14368,
      "label": "odontoid hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024914",
          "MEDGEN:339524",
          "NCIT:C86969",
          "OMIM:613628",
          "UMLS:C1846439"
        ],
        "synonyms": [
          "odontoid hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013333"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18942,
      "label": "segmental odontomaxillary dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018872",
          "ICD9:524.89",
          "MEDGEN:785795",
          "NANDO:1200561",
          "Orphanet:67039",
          "SCTID:699756005",
          "UMLS:C3698531",
          "icd11.foundation:1309035766"
        ],
        "synonyms": [
          "SOD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019029"
    },
    {
      "id": 19033,
      "label": "angioosteohypotrophic syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018927",
          "MEDGEN:1641209",
          "Orphanet:75508",
          "SCTID:765750001",
          "UMLS:C4707561"
        ],
        "synonyms": [
          "Phlebectatic osteohypoplastic angiodysplasia",
          "Servelle-Martorell syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019156"
    },
    {
      "id": 19236,
      "label": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        7153,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111673",
          "GARD:0016736",
          "MEDGEN:1375647",
          "OMIM:618150",
          "Orphanet:85172",
          "UMLS:C4509877",
          "icd11.foundation:738688839"
        ],
        "synonyms": [
          "SWILS",
          "Saul-Wilson syndrome",
          "microcephalic osteodysplastic dysplasia",
          "microcephalic osteodysplastic dysplasia, Saul-Wilson type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019407"
    }
  ],
  "roots": [
    {
      "id": 7061,
      "label": "bone disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}