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Metadata
ID DOID:0110968
PURL http://purl.obolibrary.org/obo/DOID_0110968 Copy
Name brachydactyly type A6
Definition A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.
https://www.ncbi.nlm.nih.gov/pubmed/4073129
Xrefs

GARD:983

MESH:C537092

MIM:112910

ORDO:93382

SNOMEDCT_US_2025_09_01:715722003

UMLS_CUI:C1862130

Subsets

DO_rare_slim

Synonyms

BDA6 [EXACT]

brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities [EXACT]

Osebold-Remondini syndrome [EXACT]

Parent Relationships

is_a brachydactyly

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