ONTOLOGY REPORT - ANNOTATIONS


Term:lysinuric protein intolerance
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Accession:DOID:0060439 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Dibasic Amino Aciduria II;   Hyperdibasic Aminoaciduria;   LPI;   LPI - Lysinuric Protein Intolerance
 primary_id: MESH:C562687;   RDO:0012291
 alt_id: OMIM:222700
 xref: GARD:3335;   ORDO:470
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lysinuric protein intolerance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc7a7 solute carrier family 7 member 7 JBrowse link 15 33,013,346 33,059,733 RGD:1624296
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            lysinuric protein intolerance 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              lysinuric protein intolerance 1
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