Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3516 | RBPJ | recombination signal binding protein for immunoglobulin kappa J region | |
| 4851 | NOTCH1 | notch receptor 1 | |
| 54567 | DLL4 | delta like canonical Notch ligand 4 | |
| 57514 | ARHGAP31 | Rho GTPase activating protein 31 | |
| 57572 | DOCK6 | dedicator of cytokinesis 6 | |
| 285203 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9JI71 | Delta-like protein 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002353 | EEG abnormality |
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0002814 | Abnormality of the lower limb |
| HP:0002817 | Abnormality of the upper limb |
| HP:0004050 | Absent hand |
| HP:0004935 | Pulmonary artery atresia |
| HP:0005916 | Abnormal metacarpal morphology |
| HP:0006101 | Finger syndactyly |
| HP:0006970 | Periventricular leukomalacia |
