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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   NCI:C121563;   ORDO:470
For additional species annotation, visit the Alliance of Genome Resources.


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lysinuric protein intolerance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a7 solute carrier family 7 member 7 ISO DNA:deletion
ClinVar Annotator: match by OMIM:222700
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Lysinuric protein intolerance
OMIM
ClinVar
PMID:9536098 PMID:10080182 PMID:10080183 PMID:10631139 PMID:10655553 PMID:10737982 PMID:11377971 PMID:11544277 PMID:11883940 PMID:12402335 PMID:15756301 PMID:15776427 PMID:17576681 PMID:17666782 PMID:17764084 PMID:18716612 PMID:18846669 PMID:20301535 PMID:23772603 PMID:23940088 PMID:25326635 PMID:25419514 PMID:25741868 PMID:26865117 PMID:28028301 PMID:28492532 PMID:29058386, PMID:10080182 RGD:1624296 NCBI chr15:33,013,346...33,059,733
Ensembl chr15:33,013,504...33,051,129
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            lysinuric protein intolerance 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              lysinuric protein intolerance 1
paths to the root