{
  "id": 19475,
  "label": "bent bone dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019698",
  "properties": {
    "xrefs": [
      "GARD:0019196",
      "ICD9:756.59",
      "MEDGEN:609415",
      "Orphanet:93439",
      "SCTID:254095002",
      "UMLS:C0432238"
    ],
    "synonyms": [
      "campomelic dysplasia and related disorders"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "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": 8614,
      "label": "Weismann-Netter syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005232",
          "MEDGEN:350610",
          "MESH:C537082",
          "NORD:1843",
          "OMIM:112350",
          "Orphanet:3344",
          "SCTID:715532007",
          "UMLS:C1862172",
          "icd11.foundation:180927608"
        ],
        "synonyms": [
          "WEISMANN-NETTER syndrome",
          "WNS",
          "Weismann Netter Stuhl Syndrome",
          "Weismann Netter syndrome",
          "Weismann-Netter syndrome",
          "Weismann-Netter-Stuhl syndrome",
          "anterior bowing of legs with dwarfism",
          "Toxopachyosteose Diaphysaire Tibio-Peroniere",
          "bowing of legs, anterior with dwarfism",
          "bowing of legs, anterior, with dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007209"
    },
    {
      "id": 8656,
      "label": "campomelic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6875,
        7171,
        16088,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050463",
          "GARD:0010027",
          "ICD9:733.29",
          "MEDGEN:354620",
          "MESH:D055036",
          "NCIT:C84609",
          "NORD:884",
          "OMIM:114290",
          "Orphanet:140",
          "SCTID:74928006",
          "UMLS:C1861922",
          "icd11.foundation:913761638"
        ],
        "synonyms": [
          "CMD",
          "Campomelic Syndrome",
          "campomelic dwarfism",
          "campomelic dysplasia",
          "acampomelic campomelic dysplasia",
          "CMPD1",
          "Cmd1",
          "Cmpd",
          "Cmpd1/Sra1",
          "acampomelic campomelic dysplasia with autosomal Sex reversal",
          "campomelic dysplasia with autosomal Sex reversal",
          "camptomelic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007251"
    },
    {
      "id": 9505,
      "label": "parastremmatic dwarfism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18364,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111539",
          "GARD:0004222",
          "MEDGEN:358366",
          "MESH:C537172",
          "OMIM:168400",
          "Orphanet:2646",
          "SCTID:722210007",
          "UMLS:C1868616",
          "icd11.foundation:431936114"
        ],
        "synonyms": [
          "parastremmatic dwarfism",
          "Parastremmatic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008196"
    },
    {
      "id": 10146,
      "label": "kyphomelic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061155",
          "GARD:0010149",
          "ICD9:733.29",
          "MEDGEN:140930",
          "MESH:C538128",
          "OMIM:211350",
          "Orphanet:1801",
          "SCTID:254096001",
          "UMLS:C0432239",
          "icd11.foundation:268821879"
        ],
        "synonyms": [
          "kyphomelic dysplasia",
          "bowing, congenital, with short bones",
          "congenital bowing with short bones"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008881"
    },
    {
      "id": 10147,
      "label": "congenital bowing of long bones",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17728,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000953",
          "MEDGEN:395251",
          "MedDRA:10054064",
          "OMIM:211355",
          "Orphanet:2292",
          "SCTID:716098006",
          "UMLS:C1859394",
          "icd11.foundation:1261565213"
        ],
        "synonyms": [
          "bowing of long bones congenital",
          "bowing of long bones, asymmetric and symmetric"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008882"
    },
    {
      "id": 10161,
      "label": "campomelia, Cumming type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16088,
        19154,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001061",
          "MEDGEN:347864",
          "MESH:C537966",
          "OMIM:211890",
          "Orphanet:1318",
          "SCTID:720599002",
          "UMLS:C1859371",
          "icd11.foundation:152223075"
        ],
        "synonyms": [
          "campomelia, Cumming type",
          "Cumming syndrome",
          "campomelia Cumming type",
          "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys",
          "cervical lymphocele with bowed long bones"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008896"
    },
    {
      "id": 17536,
      "label": "Blount disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14798",
          "GARD:0000916",
          "ICD9:736.89",
          "MEDGEN:104499",
          "MESH:C536237",
          "MedDRA:10072255",
          "NCIT:C118460",
          "Orphanet:2768",
          "SCTID:79353000",
          "UMLS:C0175756",
          "icd11.foundation:138830223"
        ],
        "synonyms": [
          "Blount disease",
          "Blount's disease",
          "Osteochondrosis deformans tibiae",
          "infantile tibia vara",
          "tibia vara Blount",
          "Blount-Barber syndrome",
          "Erlacher-Blount syndrome",
          "Osteochondrosis deformans tibiae, familial infantile type",
          "tibia vara"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017194"
    },
    {
      "id": 18127,
      "label": "severe lateral tibial bowing with short stature",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021436",
          "MEDGEN:1634340",
          "Orphanet:324307",
          "SCTID:766819001",
          "UMLS:C4707850"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017927"
    },
    {
      "id": 22250,
      "label": "familial bent bone dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025701",
          "OMIMPS:614592"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0031615"
    },
    {
      "id": 24797,
      "label": "Stüve-Wiedemann syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10930,
        19475,
        22232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005045",
          "MEDGEN:1803541",
          "MESH:C537502",
          "OMIM:601559",
          "Orphanet:3206",
          "SCTID:254097005",
          "UMLS:C5676888"
        ],
        "synonyms": [
          "STUVE-Wiedemann syndrome",
          "SWS",
          "Stuve-Wiedemann syndrome",
          "Stws",
          "Stüve-Wiedemann syndrome",
          "SJS2",
          "STWS",
          "Schwartz-Jampel syndrome neonatal",
          "Schwartz-Jampel syndrome type 2",
          "Schwartz-Jampel syndrome, neonatal",
          "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome",
          "Stüve-Wiedemann dysplasia",
          "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome",
          "neonatal Schwartz-Jampel syndrome",
          "Schwartz-Jampel syndrome, type 2",
          "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome",
          "neonatal Schwartz-Jampel syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800043"
    },
    {
      "id": 25826,
      "label": "autosomal recessive combined immunodeficiency due to complete IL6ST deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16075,
        18207,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026935",
          "MEDGEN:1864006",
          "Orphanet:656283",
          "UMLS:C5925103"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958115"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}