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:Antley-Bixler syndrome without disordered steroidogenesis
go back to main search page
Accession:DOID:0081290 term browser browse the term
Definition:An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)
Synonyms:exact_synonym: ABS2;   ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
 primary_id: OMIM:207410
 alt_id: DOID:9007609

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Antley-Bixler syndrome without disordered steroidogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM
ClinVar		 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9495
      Antley-Bixler syndrome 3
        Antley-Bixler syndrome without disordered steroidogenesis 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      musculoskeletal system disease 7381
        connective tissue disease 5011
          bone disease 3674
            bone development disease 2182
              dysostosis 543
                synostosis 354
                  craniosynostosis 295
                    Antley-Bixler syndrome 3
                      Antley-Bixler syndrome without disordered steroidogenesis 2
paths to the root