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 / Organisms
Noonan syndrome 7
Summary
- Synonym
-
- NS7
- Definition
- A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060585
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011381 | Aplasia of the semicircular canal |
| HP:0011675 | Arrhythmia |
| HP:0011800 | Midface retrusion |
| HP:0011869 | Abnormal platelet function |
| HP:0012209 | Juvenile myelomonocytic leukemia |
| HP:0012569 | Delayed menarche |
| HP:0012758 | Neurodevelopmental delay |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100625 | Enlarged thorax |
| HP:0100763 | Abnormality of the lymphatic system |
