Search Ontology:
Human Disease
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
- MIM:611717
- ORDO:163654
- SNOMEDCT_US_2023_03_01:718765003
- UMLS_CUI:C2673649
- Ontology
- Human Disease ( DOID:0112287 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models