Kw 0586
cv_term_accession
KW-0586
canonical
uniprot_keyword
KW-0586
canonical
name
Phenylketonuria
uniprot
definition
Protein which, if defective, causes phenylketonuria, an autosomal recessive disorder in which the body is unable to break down the amino acid phenylalanine. The resulting buildup of phenylalanine in the body causes intellectual disability, mental disturbances, eczema and skin pigmentation.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords