spondylometaphyseal dysplasia East African type

Term ID

DOID:0112302

Synonyms

Definition

A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. https://pubmed.ncbi.nlm.nih.gov/12457408/

References

• GARD:4992
• OMIM:611702

Ontology

Human Disease   ( DOID:0112302 )