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:diphthamide deficiency syndrome
go back to main search page
Accession:DOID:0070476 term browser browse the term
Definition:An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (DO)
Synonyms:exact_synonym: DEDSSH;   craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome;   developmental delay with short stature, dysmorphic facial features, and sparse hair
 xref: OMIM:PS616901;   ORDO:459061

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
diphthamide deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chrNW_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004955537:3,496,688...3,500,147
Ensembl chrNW_004955537:3,496,688...3,500,147 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chrNW_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231 		JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004955537:3,496,688...3,500,147
Ensembl chrNW_004955537:3,496,688...3,500,147 		JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chrNW_004955435:5,618,646...5,659,403
Ensembl chrNW_004955435:5,615,143...5,659,125 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chrNW_004955435:5,530,591...5,609,613
Ensembl chrNW_004955435:5,530,591...5,609,613 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    Developmental Disease 12386
      bone development disease 2153
        Dwarfism 783
          diphthamide deficiency syndrome 4
            diphthamide deficiency syndrome 1 1
            diphthamide deficiency syndrome 2 1
            neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      nervous system disease 12142
        central nervous system disease 10886
          brain disease 10219
            disease of mental health 7344
              Neurodevelopmental Disorders 6202
                Developmental Disabilities 750
                  diphthamide deficiency syndrome 4
                    diphthamide deficiency syndrome 1 1
                    diphthamide deficiency syndrome 2 1
                    neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2
paths to the root