About: nodeID://b50938847

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007646
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	lysinuric protein intolerance
annotatedTarget	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.
database_cross_reference	url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance url:http://www.ncbi.nlm.nih.gov/books/NBK1361/ url:https://www.ncbi.nlm.nih.gov/pubmed/1155480 url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance
is topic of	Human Disease Ontology

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