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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:10080182, PMID:10080183, PMID:10631139, PMID:10655553, PMID:10737982, PMID:11377971, PMID:11544277, PMID:11883940, PMID:12402335, PMID:15756301, PMID:15776427, 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            lysinuric protein intolerance 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              lysinuric protein intolerance 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.