ROSAH syndrome is a genetic disease of innate immune activation. ROSAH stands for Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis and Headache and the name emphasizes some, but not all, of the features that can be associated with the syndrome. The disease is inherited in an autosomal dominant manner and caused by heterozygous missense mutations in the ALPK1 gene, an innate immune sensor for bacterial sugars.
Attributes | Values |
---|
rdf:type
| |
rdfs:label
| |
rdfs:comment
| - ROSAH syndrome is a genetic disease of innate immune activation. ROSAH stands for Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis and Headache and the name emphasizes some, but not all, of the features that can be associated with the syndrome. The disease is inherited in an autosomal dominant manner and caused by heterozygous missense mutations in the ALPK1 gene, an innate immune sensor for bacterial sugars. (en)
|
foaf:name
| |
name
| |
foaf:depiction
| |
dcterms:subject
| |
Wikipage page ID
| |
Wikipage revision ID
| |
Link from a Wikipage to another Wikipage
| |
Link from a Wikipage to an external page
| |
sameAs
| |
dbp:wikiPageUsesTemplate
| |
thumbnail
| |
OMIM
| |
caption
| - ROSAH syndrome is inherited via an autosomal dominant manner (en)
|
causes
| - Mutation in ALPK1 gene (en)
|
has abstract
| - ROSAH syndrome is a genetic disease of innate immune activation. ROSAH stands for Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis and Headache and the name emphasizes some, but not all, of the features that can be associated with the syndrome. The disease is inherited in an autosomal dominant manner and caused by heterozygous missense mutations in the ALPK1 gene, an innate immune sensor for bacterial sugars. (en)
|
medical cause
| |
prov:wasDerivedFrom
| |
page length (characters) of wiki page
| |
OMIM id
| |
foaf:isPrimaryTopicOf
| |
is Link from a Wikipage to another Wikipage
of | |
is foaf:primaryTopic
of | |