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autosomal recessive osteopetrosis 7
Summary
- Synonym
-
- OPTB7
- autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- autosomal recessive osteopetrosis type 7
- osteoclast-poor osteopetrosis with hypogammaglobulinemia
- osteopetrosis-hypogammaglobulinemia syndrome
- Definition
- An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
- Super Class
- autosomal recessive disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110946
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 410 | ARSA | arylsulfatase A | |
| 1178 | CLC | Charcot-Leyden crystal galectin | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15392 | Delta(24)-sterol reductase | |
| Q9UBQ6 | Exostosin-like 2 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
