spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

Term ID

DOID:0112287

Synonyms

• Fantasy Island syndrome
• SED-BDS
• SED-brachydactyly and distinctive speech
• spondyloepiphyseal dysplasia, Cantu type
• Tattoo dysplasia

Definition

A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. https://pubmed.ncbi.nlm.nih.gov/17515304/

References

• GARD:10629
• MESH:C567128
• OMIM:611717
• ORDO:163654
• SNOMEDCT_US_2023_03_01:718765003
• UMLS_CUI:C2673649

Ontology

Human Disease   ( DOID:0112287 )