Visualize Submit Comment
Metadata
ID DOID:0112107
Name 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.
https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/, https://pubmed.ncbi.nlm.nih.gov/17683354/, https://pubmed.ncbi.nlm.nih.gov/8004674/
Xrefs

GARD:10731

MESH:C564038

OMIM:300842

ORDO:59306

SNOMEDCT_US_2020_09_01:234411007

UMLS_CUI:C0398568

Synonyms

McLeod neuroacanthocytosis syndrome [EXACT]

McLeod syndrome with or without chronic granulomatous disease [EXACT]

McLeod type neuroacanthocytosis [EXACT]

MLS [EXACT]

X-linked McLeod syndrome [EXACT]

Parent Relationships

is_a neuroacanthocytosis

is_a X-linked monogenic disease

Add an item to the term tracker