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 Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) 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 GERRC (Gene Editing Rat Resource Center) 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:RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
go back to main search page
Accession:DOID:9003152 term browser browse the term
Definition:A disease characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia.
Synonyms:exact_synonym: RLSDF
 primary_id: OMIM:618821


show annotations for term's descendants           Sort by:
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkdcc protein kinase domain containing, cytoplasmic ISO ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features OMIM
ClinVar		 PMID:16199547 PMID:19097194 PMID:25741868 PMID:28492532 PMID:30478137 More... NCBI chr 6:11,455,686...11,465,002
Ensembl chr 6:11,455,686...11,465,556 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      bone development disease 2258
        RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      Skin and Connective Tissue Diseases 7360
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
paths to the root