spondylometaphyseal dysplasia

Term ID

DOID:0112295

Synonyms

Definition

An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. https://pubmed.ncbi.nlm.nih.gov/16752352/

References

ORDO:254

Ontology

Human Disease ( DOID:0112295 )

Relationships

is a type of: osteochondrodysplasia

osteochondrodysplasia Show first 5 Terms
has subtype: axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia Algerian type spondylometaphyseal dysplasia corner fracture type spondylometaphyseal dysplasia East African type spondylometaphyseal dysplasia Kozlowski type ... Show All 11 Terms

axial spondylometaphyseal dysplasia spondylometaphyseal dysplasia Algerian type spondylometaphyseal dysplasia corner fracture type spondylometaphyseal dysplasia East African type spondylometaphyseal dysplasia Kozlowski type spondylometaphyseal dysplasia Megarbane-Dagher-Melike type spondylometaphyseal dysplasia Sedaghatian type spondylometaphyseal dysplasia type A4 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism spondylometaphyseal dysplasia with cone-rod dystrophy spondylometaphyseal dysplasia with corneal dystrophy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations