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ZIRC
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)
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