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)

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:hypogonadotropic hypogonadism 3 with or without anosmia
go back to main search page
Accession:DOID:0090092 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH3
 narrow_synonym: Kallmann syndrome 3;   Kallmann syndrome type 3, recessive;   hypogonadotropic hypogonadism 3 without anosmia
 xref: MIM:244200;   MONDO:0009482

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3 OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    syndrome 9733
      Kallmann syndrome 34
        hypogonadotropic hypogonadism 3 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 14316
    Developmental Disease 12568
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11797
        Congenital Abnormalities 7143
          Urogenital Abnormalities 425
            disorder of sexual development 220
              46, XY Disorders of Sex Development 80
                Kallmann syndrome 34
                  hypogonadotropic hypogonadism 3 with or without anosmia 1
paths to the root