OBO ID: DOID:0112149 |
Term Name: | terminal osseous dysplasia | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/20598277/ | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0112149 ) |
OTHER terminal osseous dysplasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.