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Human Disease

brachydactyly type A1B

Term ID
DOID:0110974
Synonyms
  • BDA1B
Definition
A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. https://www.ncbi.nlm.nih.gov/pubmed/11897820
References
Ontology
Human Disease   ( DOID:0110974 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models