.
Hypophosphatemic Rickets, Autosomal Recessive, 1 - Ontology Report - Rat Genome Database

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:Hypophosphatemic Rickets, Autosomal Recessive, 1
go back to main search page
Accession:DOID:9001514 term browser browse the term
Synonyms:exact_synonym: ARHP;   ARHR;   ARHR1;   Hypophosphatemia, Autosomal Recessive
 primary_id: MESH:C562792
 alt_id: MIM:241520

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chrNW_004955474:2,188,090...2,200,284 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    Developmental Disease 12613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          monogenic disease 9987
            autosomal genetic disease 9592
              autosomal recessive disease 6644
                autosomal recessive hypophosphatemic rickets 2
                  Hypophosphatemic Rickets, Autosomal Recessive, 1 1
Path 2
Term Annotations click to browse term
  disease 14341
    Nutritional and Metabolic Diseases 6994
      disease of metabolism 6994
        acquired metabolic disease 2129
          nutrition disease 771
            Malnutrition 244
              nutritional deficiency disease 226
                Avitaminosis 187
                  Vitamin D Deficiency 29
                    rickets 22
                      Hypophosphatemic Rickets 15
                        Familial Hypophosphatemic Rickets 12
                          autosomal recessive hypophosphatemic rickets 2
                            Hypophosphatemic Rickets, Autosomal Recessive, 1 1
paths to the root