Disease association ontology term - MONDO:0008963 - Chediak-Higashi syndrome

Term summary

ID

MONDO:0008963

Name

Chediak-Higashi syndrome

Ontology or CV name

Disease association

Definition

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.

Parents

• is_a congenital nervous system disorder
• is_a constitutional neutropenia
• is_a hereditary hemophagocytic lymphohistiocytosis
• is_a syndromic oculocutaneous albinism
• is_a disorder of lysosomal-related organelles
• is_a hereditary peripheral neuropathy
• is_a inherited neurodegenerative disorder

Annotation