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   new 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

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:pontocerebellar hypoplasia type 1E
go back to main search page
Accession:DOID:0112330 term browser browse the term
Definition:A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (DO)
Synonyms:exact_synonym: PCH1E
 primary_id: OMIM:619303
 alt_id: DOID:9005567


show annotations for term's descendants           Sort by:
pontocerebellar hypoplasia type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E OMIM
ClinVar		 PMID:8147499 PMID:16199547 PMID:25741868 PMID:26168012 PMID:26951855 More... NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        neurodegenerative disease 4902
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 1 18
              pontocerebellar hypoplasia type 1E 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 1 18
                  pontocerebellar hypoplasia type 1E 1
paths to the root