.
oculocerebrorenal syndrome - Ontology Report - Rat Genome Database

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)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:oculocerebrorenal syndrome
go back to main search page
Accession:EFO:MONDO:0010645 term browser browse the term
Definition:Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Synonyms:exact_synonym: DOID:1056;   Lowe disease;   Lowe oculo-cerebro-renal syndrome;   Lowe oculocerebrorenal syndrome;   Lowe syndrome;   Lowe syndrome, X-linked recessive;   NCIT:C84940;   OCR;   OCRL;   Orphanet:534;   http://identifiers.org/medgen/18145;   http://identifiers.org/mesh/D009800;   http://identifiers.org/snomedct/79385002;   http://linkedlifedata.com/resource/umls/id/C0028860;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1392767390;   https://omim.org/entry/309000;   oculo-cerebro-renal dystrophy;   oculo-cerebro-renal syndrome;   oculocerebrorenal dystrophy;   oculocerebrorenal syndrome of Lowe;   phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
 synonym: http://identifiers.org/meddra/10051707
 related_synonym: Ocrl1;   phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
 alt_id: MONDO:0010645
 xref: DOID:1056;   GARD:3295;   ICD9:270.8;   MEDGEN:18145;   MESH:D009800;   MIM:309000;   MedDRA:10051707;   NANDO:2100028;   NANDO:2200188;   NCI:C84940;   NORD:1379;   ORDO:534;   SCTID:79385002;   UMLS:C0028860;   icd11.foundation:1392767390

 Loading Annotations... 
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
X

show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            oculocerebrorenal syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          urinary system disease 0
            kidney disease 0
              inherited kidney disorder 0
                inherited renal tubular disease 0
                  oculocerebrorenal syndrome 0
paths to the root