| 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/8004674/, https://pubmed.ncbi.nlm.nih.gov/17683354/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:234411007 |
| Subsets |
DO_rare_slim |
| 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 X-linked monogenic disease is_a neuroacanthocytosis |
| Subclass Logical Relationships |
has material basis in some X-linked inheritance |