Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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:12110406, PMID:17055431, PMID:17192541, PMID:18414213, PMID:18996919, PMID:19550437, PMID:19846465, PMID:23054245, PMID:24033266, PMID:25604815, PMID:25741868, PMID:28492532 NCBI chr 8:122,382,613...122,402,209 JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:122,439,679...122,447,208 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        osteochondrodysplasia 446
          osteogenesis imperfecta 38
            osteogenesis imperfecta type 7 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                osteogenesis imperfecta 38
                  osteogenesis imperfecta type 7 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.