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osteogenesis imperfecta type 4 - Ontology Report - Rat Genome Database

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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 4
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Accession:DOID:0110340 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI, type IV;   OI4;   osteogenesis imperfecta type IV;   osteogenesis imperfecta with normal sclera;   osteogenesis imperfecta with normal sclerae
 broad_synonym: osteogenesis imperfecta, type III/IV
 primary_id: MESH:C536045
 alt_id: MIM:166220;   RDO:0001459
 xref: GARD:8696;   NCI:C98576

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show annotations for term's descendants           Sort by:
osteogenesis imperfecta type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 OMIM:166220
ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4		 OMIM
MouseDO
ClinVar		 PMID:1634225 PMID:1718984 PMID:1770532 PMID:2037280 PMID:2542316 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 | ClinVar Annotator: match by term: Osteogenesis imperfecta with normal sclerae OMIM
ClinVar		 PMID:2064612 PMID:2897363 PMID:4795106 PMID:7695699 PMID:7860070 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV ClinVar PMID:16199547 PMID:23919265 PMID:25741868 PMID:25944380 PMID:25960145 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          osteogenesis imperfecta 62
            osteogenesis imperfecta type 4 3
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                osteogenesis imperfecta 62
                  osteogenesis imperfecta type 4 3
paths to the root