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:ALZAHRANI-KUWAHARA SYNDROME
go back to main search page
Accession:DOID:9005217 term browser browse the term
Definition:This disease is an autosomal recessive, neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features.
Synonyms:exact_synonym: ALKUS;   NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CATARACTS
 primary_id: OMIM:619268


show annotations for term's descendants           Sort by:
ALZAHRANI-KUWAHARA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg8 SMG8 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome OMIM
ClinVar		 PMID:25741868 PMID:33242396 NCBI chr10:71,886,742...71,895,776
Ensembl chr10:71,886,744...71,895,760 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        ALZAHRANI-KUWAHARA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              Neurodevelopmental Disorders 6832
                ALZAHRANI-KUWAHARA SYNDROME 1
paths to the root