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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:osteogenesis imperfecta type 7
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Accession:DOID:0110337 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: OI, Type VII;   OI2B;   OI7;   OSTEOGENESIS IMPERFECTA, TYPE IIB;   OSTEOGENESIS IMPERFECTA, TYPE VII;   Osteogenesis Imperfecta, Type 2B;   Osteogenesis imperfecta, perinatal lethal, autosomal recessive
 primary_id: MESH:C536043;   MESH:C536048;   MESH:C565200
 alt_id: OMIM:610682;   RDO:0001457;   RDO:0001462;   RDO:0013911
 xref: GARD:8701
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crtap cartilage associated protein ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7
ClinVar Annotator: match by OMIM:610682
OMIM
ClinVar
PMID:9536098 PMID:12110406 PMID:16199547 PMID:17055431 PMID:17192541 More...
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:114,085,524...114,093,388 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 7 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 7 3
paths to the root