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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:SOST-related sclerosing bone dysplasia
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Accession:DOID:0080036 term browser browse the term
Definition:A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)
Synonyms:exact_synonym: VBCH;   endosteal hyperostosis, autosomal recessive;   hyperostosis corticalis generalisata;   hyperphosphatasemia tarda;   van Buchem disease
 broad_synonym: ELEVATED ALKALINE PHOSPHATASE
 xref: GARD:4771;   MIM:239100;   MONDO:0009395


show annotations for term's descendants           Sort by:
SOST-related sclerosing bone dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Elevated alkaline phosphatase ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 More... NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:6,715,935...6,735,313 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Elevated alkaline phosphatase ClinVar PMID:28492532 NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
G Sost sclerostin ISS OMIM:239100 MouseDO NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        bone disease 4398
          bone remodeling disease 512
            hyperostosis 72
              SOST-related sclerosing bone dysplasia 3
Path 2
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
                SOST-related sclerosing bone dysplasia 3
paths to the root