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acrodysostosis

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Disease Ontology Description A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
Mondo Term and Equivalent IDs
MONDO:0019797:  acrodysostosis
GARD:0005724: 
MESH:C538179: 
OMIMPS:101800: 
Orphanet:950: 
SCTID:66758006: 
UMLS:C0220659: