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:Van Esch-O'Driscoll syndrome
go back to main search page
Accession:DOID:0111840 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O'DRISCOLL TYPE;   MRXSVEOD;   VEODS;   X-LINKED INTELLECTUAL DISABILITY, VAN ESCH TYPE
 broad_synonym: POLA1-RELATED CONDITION
 primary_id: OMIM:301030
 xref: ORDO:163976


show annotations for term's descendants           Sort by:
Van Esch-O'Driscoll syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 More... NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        intellectual disability 4300
          X-Linked Intellectual Developmental Disorders 809
            syndromic X-linked intellectual disability 619
              Van Esch-O'Driscoll syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    X-Linked Intellectual Developmental Disorders 809
                      syndromic X-linked intellectual disability 619
                        Van Esch-O'Driscoll syndrome 1
paths to the root