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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:Amino Acid Transport Disorders, Inborn
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Accession:DOID:9005730 term browser browse the term
Definition:Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)
Synonyms:exact_synonym: Inherited Amino Acid Transport Disorders
 primary_id: MESH:D020157



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Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 member 19 susceptibility ISO
ISS
DNA:mutations
CTD Direct Evidence: marker/mechanism
OMIM:234500
ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 More... RGD:1600035 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457
JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome | ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8504307 PMID:9199559 PMID:9430698 PMID:9536098 PMID:9632163 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362
JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942
JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519
JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245
JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
JBrowse link
G Cldn19 claudin 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
OMIM
CTD
ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          Amino Acid Transport Disorders, Inborn 13
            Hartnup disease 1
            oculocerebrorenal syndrome + 12
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            Amino Acid Transport Disorders, Inborn 13
              Hartnup disease 1
              oculocerebrorenal syndrome + 12
paths to the root