McLeod neuroacanthocytosis syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0018945
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. [ Orphanet:59306 ]
Term information
- SCTID:234411007 (MONDO:equivalentTo)
- MESH:C564038 (MONDO:equivalentTo)
- ICD10:G10 (Orphanet:59306)
- HGNC:12811 (GARD:0010731)
- GARD:0010731 (MONDO:equivalentTo)
- ICD9:289.89 (i2s)
- OMIM:300842 (Orphanet:59306)
- Orphanet:59306 (OMIM:300842)
gard_rare, ordo_disease
http://linkedlifedata.com/resource/umls/id/C3151853
http://linkedlifedata.com/resource/umls/id/C0398568
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
http://www.orpha.net/ORDO/Orphanet_59306
http://identifiers.org/snomedct/234411007
http://identifiers.org/mesh/C564038
http://identifiers.org/omim/300842
McLeod phenotype
McLeod syndrome with chronic granulomatous disease
MCLDS
neuroacanthocytosis, McLeod type