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Metadata
ID DOID:0110964
Name brachydactyly type A1
Definition A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
https://www.ncbi.nlm.nih.gov/pubmed/12525541, https://www.ncbi.nlm.nih.gov/pubmed/14043746
Xrefs

GARD:978

MESH:C537088

OMIM:112500

ORDO:93388

Subsets

DO_rare_slim

Synonyms

BDA1 [EXACT]

Farabee type brachydactyly [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a brachydactyly

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