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Human Disease

Desbuquois dysplasia

Term ID
DOID:0060462
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
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Genes Involved
Zebrafish Models