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:congenital disorder of glycosylation Iy
go back to main search page
Accession:DOID:0080574 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: CDG IY;   CDG1Y;   CDGIy;   SSR4-RELATED CONDITION;   SSR4-congenital disorder of glycosylation;   congenital disorder of glycosylation 1y;   congenital disorder of glycosylation type 1Y;   congenital disorder of glycosylation, type Iy
 xref: GARD:12405;   MIM:300934;   MONDO:0010490;   ORDO:370927


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation Iy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation ClinVar NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation ClinVar NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation ClinVar NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation | ClinVar Annotator: match by term: SSR4-related condition OMIM
ClinVar		 PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 PMID:28492532 NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5200
      congenital disorder of glycosylation 584
        congenital disorder of glycosylation type I 300
          congenital disorder of glycosylation Iy 4
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14666
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13714
        genetic disease 13379
          inherited metabolic disorder 6628
            carbohydrate metabolic disorder 3420
              congenital disorder of glycosylation 584
                congenital disorder of glycosylation type I 300
                  congenital disorder of glycosylation Iy 4
paths to the root