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autosomal dominant osteopetrosis 2
Summary
- Synonym
-
- Albers-Schonberg osteopetrosis
- OPTA2
- autosomal dominant Albers-Schonberg disease
- autosomal dominant osteopetrosis type II
- osteopetrosis autosomal dominant type 2
- Definition
- An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
- Super Class
- autosomal dominant disease osteopetrosis spinal disease
External Links
- Disease Ontology
- DOID:0110938
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 1178 | CLC | Charcot-Leyden crystal galectin | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 8560 | DEGS1 | delta 4-desaturase, sphingolipid 1 | |
| 9791 | PTDSS1 | phosphatidylserine synthase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15121 | Sphingolipid delta(4)-desaturase DES1 | |
| O43909 | Exostosin-like 3 | |
| P15289 | Arylsulfatase A | |
| P48651 | Phosphatidylserine synthase 1 | |
| Q15392 | Delta(24)-sterol reductase | |
| Q9UBQ6 | Exostosin-like 2 |
