FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term McLeod syndrome ID (Ontology) DOID:0112107 (Human Disease)
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.
Also Known As "McLeod neuroacanthocytosis syndrome" ; "McLeod syndrome with or without chronic granulomatous disease" ; "McLeod type neuroacanthocytosis" (for all, see Synonyms field below)
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DO.org
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Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
neurodegenerative disease       |
 |__neuroacanthocytosis_________|
                                McLeod syndrome
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Is a X-linked monogenic disease
neuroacanthocytosis
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Synonyms
  • "McLeod neuroacanthocytosis syndrome" EXACT
    "McLeod syndrome with or without chronic granulomatous disease" EXACT
    "McLeod type neuroacanthocytosis" EXACT
    "MLS" EXACT OMO:0003012
    "X-linked McLeod syndrome" EXACT
Secondary IDs
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GARD:10731
MESH:C564038
MIM:300842
ORDO:59306
SNOMEDCT_US_2023_03_01:234411007
UMLS_CUI:C0398568