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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 8
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Accession:DOID:0110336 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)
Synonyms:exact_synonym: OI, TYPE VIII;   OI8;   osteogenesis imperfecta type VIII
 primary_id: MESH:C536049
 alt_id: OMIM:610915;   RDO:0001463
 xref: GARD:10152
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by OMIM:610915
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VIII
ClinVar Annotator: match by term: Osteogenesis imperfecta type 8
OMIM
ClinVar
PMID:17277775, PMID:18566967, PMID:19088120, PMID:22281939, PMID:24498616, PMID:25741868, PMID:26634552, PMID:27509835, PMID:28492532, PMID:29150909, PMID:29499418 NCBI chr 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
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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 8 1
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 8 1
paths to the root

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