Chediak-Higashi syndrome
ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015134
constitutional neutropenia
is_a
MONDO:0015541
hereditary hemophagocytic lymphohistiocytosis
is_a
MONDO:0017305
syndromic oculocutaneous albinism
is_a
MONDO:0017739
disorder of lysosomal-related organelles
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
CHS
exact
ChC)diak-Higashi disease
exact
ChC)diak-Higashi-Steinbrink syndrome
exact
Chediak Higashi Syndrome
exact
Chediak Higashi syndrome
exact
Chediak-Higashi syndrome
exact
Chédiak-Higashi disease
exact
Chédiak-Higashi syndrome
exact
Chédiak-Higashi-Steinbrink syndrome
exact
SPBC28E12.06c