attenuated Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
attenuated Chediak-Higashi syndrome
exact
atypical Chediak-Higashi syndrome
exact
atypical Chédiak-Higashi syndrome
exact