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| 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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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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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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External Crossreferences & Linkouts
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GARD:10731 MESH:C564038 MIM:300842 ORDO:59306 SNOMEDCT_US_2023_03_01:234411007 UMLS_CUI:C0398568 |
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