Noonan syndrome-like disorder with loose anagen hair
Information
- Disease name
- Noonan syndrome-like disorder with loose anagen hair
- Disease ID
- DOID:0080691
- Description
- "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay." [url:https\://rarediseases.info.nih.gov/diseases/10719/disease]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SHOC2 | 10 | 110,919,588 | 111,017,307 | 30 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080690
- Cross Reference ID (Disease Ontology)
- GARD:10719
- Cross Reference ID (Disease Ontology)
- ORDO:2701
- OMIM Phenotype Series Number (OMIM)
- PS607721
- OrphaNumber from OrphaNet (Orphanet)
- 2701