Acrodysostosis 1 with or without hormone resistance
An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.
MONDO:0019797
acrodysostosis
is_a
ACRDYS1
related
ADOHR
exact
Acrodysostosis 1
exact
Acrodysostosis 1 with or without hormone resistance
exact
Acrodysostosis 1, with or without hormone resistance
exact