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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: DMP1-RELATED CONDITION;   recessive hypophosphatemic rickets
 xref: ORDO:289176


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autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISS
ISO 		OMIM:241520 | OMIM:613312
ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 		MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 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 chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO 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:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                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 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        acquired metabolic disease 2573
          nutrition disease 1037
            Malnutrition 287
              nutritional deficiency disease 267
                Avitaminosis 223
                  Vitamin D Deficiency 40
                    rickets 31
                      Hypophosphatemic Rickets 16
                        Familial Hypophosphatemic Rickets 13
                          autosomal recessive hypophosphatemic rickets 2
                            Hypophosphatemic Rickets, Autosomal Recessive, 1 1
                            Hypophosphatemic Rickets, Autosomal Recessive, 2 1
paths to the root