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Metadata
ID DOID:0110976
Name brachydactyly type E2
Definition A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
https://www.ncbi.nlm.nih.gov/pubmed/20015959, https://www.ncbi.nlm.nih.gov/pubmed/20170896
Xrefs

OMIM:613382

Synonyms

BDE2 [EXACT]

Parent Relationships

is_a brachydactyly

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