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

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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
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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

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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 protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    Developmental Disease 14084
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13142
        genetic disease 12836
          monogenic disease 10956
            autosomal genetic disease 10473
              autosomal recessive disease 7156
                autosomal recessive hypophosphatemic rickets 2
                  Hypophosphatemic Rickets, Autosomal Recessive, 1 1
Path 2
Term Annotations click to browse term
  disease 16273
    Nutritional and Metabolic Diseases 7706
      disease of metabolism 7706
        acquired metabolic disease 2392
          nutrition disease 861
            Malnutrition 271
              nutritional deficiency disease 251
                Avitaminosis 207
                  Vitamin D Deficiency 30
                    rickets 23
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 13
                          autosomal recessive hypophosphatemic rickets 2
                            Hypophosphatemic Rickets, Autosomal Recessive, 1 1
paths to the root