Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
McCune Albright syndrome
Summary
- Synonym
-
- fibrous dysplasia of bone
- osteitis fibrosa disseminata
- polyostotic fibrous dysplasia
- Definition
- A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:1858
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 276 | AMY1A | amylase alpha 1A | |
| 277 | AMY1B | amylase alpha 1B | |
| 278 | AMY1C | amylase alpha 1C | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 8802 | SUCLG1 | succinate-CoA ligase GDP/ADP-forming subunit alpha | |
| 23659 | PLA2G15 | phospholipase A2 group XV | |
| 55902 | ACSS2 | acyl-CoA synthetase short chain family member 2 |
Related Glycoprotein
