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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:autosomal recessive hypophosphatemic rickets
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Accession:DOID:0050949 term browser browse the term
Definition:A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)
Synonyms:exact_synonym: recessive hypophosphatemic rickets
 xref: ORDO:289176


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autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISS
IAGP		 OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive		 MouseDO
ClinVar		 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
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 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
EXP		 ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y901S (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:6906930, RGD:6906931 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    Developmental Disease 35303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28782
        genetic disease 27296
          monogenic disease 20124
            autosomal genetic disease 18825
              autosomal recessive disease 11129
                autosomal recessive hypophosphatemic rickets 2
                  Hypophosphatemic Rickets, Autosomal Recessive, 1 1
                  Hypophosphatemic Rickets, Autosomal Recessive, 2 1
Path 2
Term Annotations click to browse term
  disease 97419
    Nutritional and Metabolic Diseases 13678
      disease of metabolism 13678
        acquired metabolic disease 4236
          nutrition disease 1730
            Malnutrition 358
              nutritional deficiency disease 341
                Avitaminosis 290
                  Vitamin D Deficiency 74
                    rickets 38
                      Hypophosphatemic Rickets 28
                        Familial Hypophosphatemic Rickets 25
                          autosomal recessive hypophosphatemic rickets 2
                            Hypophosphatemic Rickets, Autosomal Recessive, 1 1
                            Hypophosphatemic Rickets, Autosomal Recessive, 2 1
paths to the root