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osteogenesis imperfecta type 1
Summary
- Synonym
-
- OI1
- osteogenesis imperfecta type I
- Definition
- An osteogenesis imperfecta that is characterized by bone fragility and blue 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.
- Super Class
- autosomal dominant disease osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0110334
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1634 | DCN | decorin | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P07585 | Decorin | |
| P16070 | CD44 antigen | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 |
