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DO Term : McLeod syndrome [DOID:0112107] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
OMIM:300842,
300842,
McLeod type neuroacanthocytosis,
UMLS_CUI:C0398568,
ORDO:59306,
McLeod syndrome with or without chronic granulomatous disease,
GARD:10731,
SNOMEDCT_US_2023_03_01:234411007,
McLeod neuroacanthocytosis syndrome,
MLS,
MESH:C564038,
X-linked McLeod syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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