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
Meier-Gorlin syndrome
Summary
- Synonym
-
- ear-patella-short stature syndrome
- Definition
- A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060306
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 2194 | FASN | fatty acid synthase | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 4069 | LYZ | lysozyme | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 64581 | CLEC7A | C-type lectin domain containing 7A |
Related Glycoprotein
