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:Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
go back to main search page
Accession:DOID:9000505 term browser browse the term
Definition:An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. (OMIM)
Synonyms:exact_synonym: IDDFSDA;   OTUD6B-RELATED CONDITION
 primary_id: OMIM:617452


show annotations for term's descendants           Sort by:
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTUD6B OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chr 8:87,733,597...87,750,481
Ensembl chr 8:89,685,766...89,702,659 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        intellectual disability 4322
          Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              visual pathway disease 332
                visual cortex disease 329
                  visual epilepsy 329
                    Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
paths to the root