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
Adams-Oliver syndrome
Summary
- Synonym
-
- Adams Oliver syndrome
- Definition
- A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060227
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 443983 | eogt.L | EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase L homeolog | Xenopus laevis (African clawed frog) | |
| 780148 | eogt | EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase | Xenopus tropicalis (tropical clawed frog) |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000486 | Strabismus |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
| HP:0000965 | Cutis marmorata |
| HP:0001057 | Aplasia cutis congenita |
| HP:0001156 | Brachydactyly |
| HP:0001171 | Split hand |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
