brachydactyly type E2
Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
MONDO:0019677
brachydactyly type E
is_a
BDE2
exact
PTHLH brachydactyly type E
exact
brachydactyly type E caused by mutation in PTHLH
exact
brachydactyly type E2
exact
brachydactyly, type E2
related