Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:oculocerebrorenal syndrome
go back to main search page
Accession:DOID:1056 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (DO)
Synonyms:exact_synonym: Lowe Bickel syndrome;   Lowe Disease;   Lowe Oculocerebrorenal Syndrome;   Lowe Syndrome;   Lowe Terrey MacLachlan Syndrome;   OCRL;   OCRL1;   Oculocerebrorenal Dystrophy;   cerebro oculo renal syndrome;   cerebrooculorenal syndrome;   oculocerebrorenal syndrome of Lowe;   phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency;   renal oculocerebrodystrophy
 primary_id: MESH:D009800
 alt_id: MIM:309000
 xref: GARD:3295;   ICD10CM:E72.03;   NCI:C84940;   ORDO:534
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
oculocerebrorenal syndrome term browser
Symbol Object Name 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 CTD Direct Evidence: marker/mechanism
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		 OMIM
CTD
ClinVar		 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 SNF2 related chromatin remodeling ATPase 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 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: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 19100
    syndrome 11271
      oculocerebrorenal syndrome 12
        renal hypomagnesemia 5 with ocular involvement 3
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            X-linked monogenic disease 1452
              X-linked recessive disease 870
                oculocerebrorenal syndrome 12
                  renal hypomagnesemia 5 with ocular involvement 3
paths to the root