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Summary Literature (0)
DOID:0060439 - lysinuric protein intolerance

Disease Ontology Definition:An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11.

Synonyms: dibasic amino aciduria II, hyperdibasic aminoaciduria, LPI

Xenbase Genes : slc7a7

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009109 - lysinuric protein intolerance

MIM:
MIM:222700 - LYSINURIC PROTEIN INTOLERANCE; LPI

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), genetic disease (is_a)