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Noonan syndrome 6
Summary
- Synonym
-
- NS6
- Definition
- A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060584
- Mondo Disease Ontology
- MeSH
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0006610 | Wide intermamillary distance |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008897 | Postnatal growth retardation |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature |
| HP:0010946 | Dilatation of the renal pelvis |
| HP:0011362 | Abnormal hair quantity |
