FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term osteochondrodysplasia ID (Ontology) DOID:2256 (Human Disease)
Definition A bone development disease that results_in defective development of cartilage or bone.
Also Known As "Cartilage Development disorder" ; "chondrodystrophy" ; "Congenital anomaly of cartilage" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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bone disease
 |__bone development disease__
connective tissue disease     |
 |__cartilage disease_________|
                              osteochondrodysplasia  159 rec.
                               |__acheiropody 1 rec.
                               |__achondrogenesis 2 rec.
                               |   |__achondrogenesis type IA 1 rec.
                               |   |__achondrogenesis type IB 1 rec.
                               |   |__achondrogenesis type II
                               |__achondroplasia 1 rec.
                               |__acrocapitofemoral dysplasia 1 rec.
                               |__acromesomelic dysplasia 8 rec.
                               |   |__acromesomelic dysplasia 3 1 rec.
                               |   |__acromesomelic dysplasia 4 2 rec.
                               |   |__acromesomelic dysplasia, Grebe type
                               |   |__acromesomelic dysplasia, Hunter-Thompson type
                               |   |__acromesomelic dysplasia, Maroteaux type 5 rec.
                               |   |__fibular hypoplasia and complex brachydactyly
                               |__acromicric dysplasia 2 rec.
                               |__atelosteogenesis 4 rec.
                               |__Beukes hip dysplasia 1 rec.
                               |__Blount's disease
                               |__Boomerang dysplasia 3 rec.
                               |__brachyolmia 1 rec.
                               |__calvarial doughnut lesions with bone fragility 1 rec.
                               |__campomelic dysplasia 1 rec.
                               |__chondrodysplasia Blomstrand type 1 rec.
                               |__chondrodysplasia with joint dislocations gPAPP type 1 rec.
                               |__cleidocranial dysplasia 3 rec.
                               |__Desbuquois dysplasia 2 rec.
                               |__diaphyseal medullary stenosis with malignant fibrous histiocytoma 2 rec.
                               |__diastrophic dysplasia 1 rec.
                               |__fibrochondrogenesis 1 rec.
                               |   |__fibrochondrogenesis 1 1 rec.
                               |   |__fibrochondrogenesis 2
                               |__gnathodiaphyseal dysplasia 2 rec.
                               |__hypertrichotic osteochondrodysplasia Cantu type 11 rec.
                               |__hypochondrogenesis
                               |__hypochondroplasia 1 rec.
                               |__Kenny-Caffey syndrome 1 rec.
                               |   |__Kenny-Caffey syndrome type 1 1 rec.
                               |   |__Kenny-Caffey syndrome type 2
                               |__Kniest dysplasia
                               |__Leri-Weill dyschondrosteosis
                               |__metachondromatosis 1 rec.
                               |__metaphyseal dysplasia 2 rec.
                               |   |__Jansen's metaphyseal chondrodysplasia 1 rec.
                               |   |__osteosclerotic metaphyseal dysplasia 1 rec.
                               |   |__Schmid metaphyseal chondrodysplasia
                               |__metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 3 rec.
                               |__microcephalic osteodysplastic primordial dwarfism type I
                               |__microcephalic osteodysplastic primordial dwarfism type II 1 rec.
                               |__microcephaly, short stature, and limb abnormalities 2 rec.
                               |__midface dysplasia
                               |__multiple epiphyseal dysplasia 3 rec.
                               |   |__multiple epiphyseal dysplasia 1 1 rec.
                               |   |__multiple epiphyseal dysplasia 4 1 rec.
                               |   |__multiple epiphyseal dysplasia 5
                               |   |__multiple epiphyseal dysplasia 7 1 rec.
                               |   |__multiple epiphyseal dysplasia due to collagen 9 anomaly(+)
                               |__omodysplasia 2 rec.
                               |   |__omodysplasia 1 1 rec.
                               |   |__omodysplasia 2 1 rec.
                               |__osteogenesis imperfecta 23 rec.
                               |   |__Cole-Carpenter syndrome 2 rec.
                               |   |__osteogenesis imperfecta type 1
                               |   |__osteogenesis imperfecta type 2
                               |   |__osteogenesis imperfecta type 3
                               |   |__osteogenesis imperfecta type 4
                               |   |__osteogenesis imperfecta type 5
                               |   |__osteogenesis imperfecta type 6 1 rec.
                               |   |__osteogenesis imperfecta type 7
                               |   |__osteogenesis imperfecta type 8
                               |   |__osteogenesis imperfecta type 9 2 rec.
                               |   |__osteogenesis imperfecta type 10 3 rec.
                               |   |__osteogenesis imperfecta type 11 3 rec.
                               |   |__osteogenesis imperfecta type 12 1 rec.
                               |   |__osteogenesis imperfecta type 13 2 rec.
                               |   |__osteogenesis imperfecta type 14 2 rec.
                               |   |__osteogenesis imperfecta type 15 1 rec.
                               |   |__osteogenesis imperfecta type 16 1 rec.
                               |   |__osteogenesis imperfecta type 17 1 rec.
                               |   |__osteogenesis imperfecta type 18 1 rec.
                               |   |__osteogenesis imperfecta type 19 1 rec.
                               |   |__osteogenesis imperfecta type 20 1 rec.
                               |   |__osteogenesis imperfecta type 21 1 rec.
                               |   |__osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
                               |__osteoglophonic dysplasia 1 rec.
                               |__otospondylomegaepiphyseal dysplasia, autosomal dominant
                               |__otospondylomegaepiphyseal dysplasia, autosomal recessive
                               |__parastremmatic dwarfism 1 rec.
                               |__progressive pseudorheumatoid arthropathy of childhood 1 rec.
                               |__pseudoachondroplasia 1 rec.
                               |__pycnodysostosis 4 rec.
                               |__schneckenbecken dysplasia 1 rec.
                               |__Silverman-Handmaker type dyssegmental dysplasia 1 rec.
                               |__spondyloepimetaphyseal dysplasia 66 rec.
                               |   |__anauxetic dysplasia(+) 2 rec.
                               |   |__Dyggve-Melchior-Clausen disease(+) 3 rec.
                               |   |__metatropic dysplasia 1 rec.
                               |   |__Schimke immuno-osseous dysplasia 49 rec.
                               |   |__spondyloepimetaphyseal dysplasia with joint laxity(+) 4 rec.
                               |   |__spondyloepimetaphyseal dysplasia, Genevieve-type 1 rec.
                               |   |__spondyloepimetaphyseal dysplasia, Li-Shao-Li type 1 rec.
                               |   |__spondyloepimetaphyseal dysplasia, Missouri type 1 rec.
                               |   |__spondyloepimetaphyseal dysplasia, Pakistani type 1 rec.
                               |   |__spondyloepimetaphyseal dysplasia, Sponastrime type 1 rec.
                               |   |__spondyloepimetaphyseal dysplasia, Strudwick type
                               |   |__spondylometaepiphyseal dysplasia, short limb-hand type 2 rec.
                               |   |__X-linked spondyloepimetaphyseal dysplasia
                               |__spondyloepiphyseal dysplasia 5 rec.
                               |   |__spondyloepiphyseal dysplasia congenita
                               |   |__spondyloepiphyseal dysplasia Kimberley type
                               |   |__spondyloepiphyseal dysplasia Kondo-Fu type 1 rec.
                               |   |__spondyloepiphyseal dysplasia Maroteaux type 1 rec.
                               |   |__spondyloepiphyseal dysplasia Nishimura type
                               |   |__spondyloepiphyseal dysplasia Stanescu type
                               |   |__spondyloepiphyseal dysplasia tarda(+) 1 rec.
                               |   |__spondyloepiphyseal dysplasia with congenital joint dislocations 2 rec.
                               |   |__spondyloepiphyseal dysplasia with punctate corneal dystrophy
                               |   |__spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
                               |__spondylometaphyseal dysplasia 10 rec.
                               |   |__axial spondylometaphyseal dysplasia 2 rec.
                               |   |__spondylometaphyseal dysplasia Algerian type
                               |   |__spondylometaphyseal dysplasia corner fracture type
                               |   |__spondylometaphyseal dysplasia East African type
                               |   |__spondylometaphyseal dysplasia Kozlowski type 1 rec.
                               |   |__spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 2 rec.
                               |   |__spondylometaphyseal dysplasia Sedaghatian type 2 rec.
                               |   |__spondylometaphyseal dysplasia type A4
                               |   |__spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
                               |   |__spondylometaphyseal dysplasia with cone-rod dystrophy 2 rec.
                               |   |__spondylometaphyseal dysplasia with corneal dystrophy 1 rec.
                               |__spondyloperipheral dysplasia
                               |__thanatophoric dysplasia 1 rec.
                               |__Torrance type platyspondylic dysplasia
                               |__Weissenbacher-Zweymuller syndrome
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Is a bone development disease
cartilage disease
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Synonyms
  • "Cartilage Development disorder" EXACT
    "chondrodystrophy" EXACT
    "Congenital anomaly of cartilage" EXACT
    "Osteochondrodysplasia syndrome" EXACT
    "skeletal dysplasia" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:Q78.9
ICD9CM:756.4
MESH:D010009
NCI:C34466
NCI:C84978
SNOMEDCT_US_2023_03_01:205510001
SNOMEDCT_US_2023_03_01:67988000
UMLS_CUI:C0008449
UMLS_CUI:C0029422