Chediak-Higashi syndrome
MONDO:0008963ChC)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.
Also known as: CHS, ChC)diak-Higashi disease, ChC)diak-Higashi-Steinbrink syndrome, Chediak Higashi Syndrome, Chediak Higashi syndrome, Chediak-Higashi syndrome, Chédiak-Higashi disease, Chédiak-Higashi syndrome
56 clinical trials for this condition and its sub-types, 9 tagged with Chediak-Higashi syndrome itself.
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↑ Inherited neurodegenerative disorder
(807)
↑ Hereditary peripheral neuropathy
(478)
↑ Congenital nervous system disorder
(284)
↑ Constitutional neutropenia
(28)
↑ Disorder of lysosomal-related organelles
(17)
↑ Hereditary hemophagocytic lymphohistiocytosis
(16)
↑ Syndromic oculocutaneous albinism
(12)