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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 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease

abbreviation
MLS [ Orphanet:59306 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C3151853

http://linkedlifedata.com/resource/umls/id/C0398568

definition

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.

exactMatch

http://www.orpha.net/ORDO/Orphanet_59306

http://identifiers.org/snomedct/234411007

http://identifiers.org/mesh/C564038

http://identifiers.org/omim/300842

has exact synonym

X-linked McLeod syndrome

McLeod syndrome

MLS

has related synonym

McLeod phenotype

McLeod syndrome with chronic granulomatous disease

MCLDS

neuroacanthocytosis, McLeod type

id

MONDO:0018945

seeAlso

https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome