McLeod syndrome

Term ID

DOID:0112107

Synonyms

• McLeod neuroacanthocytosis syndrome
• McLeod syndrome with or without chronic granulomatous disease
• McLeod type neuroacanthocytosis
• MLS
• X-linked McLeod syndrome

Definition

A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. (3)

References

• GARD:10731
• MESH:C564038
• MIM:300842
• ORDO:59306
• SNOMEDCT_US_2023_03_01:234411007
• UMLS_CUI:C0398568

Ontology

Human Disease   ( DOID:0112107 )