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)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal genetic disease
go back to main search page
Accession:EFO:MONDO:0000429 term browser browse the term
Definition:A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
Synonyms:exact_synonym: DOID:0050739;   autosomal hereditary disorder;   autosomal inherited disease;   autosomal inherited disorder;   http://identifiers.org/medgen/539205;   http://identifiers.org/snomedct/1899006;   http://linkedlifedata.com/resource/umls/id/C0265384
 alt_id: MONDO:0000429
 xref: DOID:0050739;   ICD9:758.5;   MEDGEN:539205;   SCTID:1899006;   UMLS:C0265384


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            autosomal genetic disease 0
              Weill-Marchesani syndrome + 0
              autosomal dominant disease + 0
              autosomal recessive disease + 0
              brachydactyly-syndactyly syndrome 0
              camptodactyly-tall stature-scoliosis-hearing loss syndrome 0
              congenital factor XI deficiency 0
              congenital factor XII deficiency 0
              septooptic dysplasia 0
paths to the root