OBO ID: DOID:0060462
Term Name: Desbuquois dysplasia Search Ontology:
Synonyms:
  • Desbuquois syndrome
  • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Definition: An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (2)
References:
Ontology: Human Disease   ( DOID:0060462 )
Relationships
is a type of:
OTHER Desbuquois dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CANT1 Desbuquois dysplasia 1 251450
XYLT1 Desbuquois dysplasia 2 615777
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
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.