Aicardi-Goutieres syndrome
cv_term_accession
KW-0948
canonical
uniprot_keyword
KW-0948
canonical
name
Aicardi-Goutieres syndrome
uniprot
synonym
AGS
uniprot
synonym
Cree encephalitis
uniprot
synonym
Pseudo-torch syndrome
uniprot
synonym
Pseudotoxoplasmosis syndrome
uniprot
definition
Protein which, if defective, causes Aicardi-Goutieres syndrome, a genetic disorder that is phenotypically similar to in utero viral infection. The disease is characterized by severe neurological dysfunction in infancy, leading to progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation and often death in early childhood.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords