SHORT syndrome
Information
- Disease name
- SHORT syndrome
- Disease ID
- DOID:0111454
- Description
- "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13." [url:https\://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay, url:https\://www.ncbi.nlm.nih.gov/pubmed/23810382]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| PRKCE | 2 | 45,651,675 | 46,187,990 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7633
- Cross Reference ID (Disease Ontology)
- MESH:C537327
- Cross Reference ID (Disease Ontology)
- MIM:269880
- Cross Reference ID (Disease Ontology)
- ORDO:3163
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0878684
- Exact Synonym (Disease Ontology)
- Aarskog-Ose-Pande syndrome
- Exact Synonym (Disease Ontology)
- Lipodystrophy-Rieger anomaly-diabetes syndrome
- Exact Synonym (Disease Ontology)
- Rieger anomaly-partial lipodystrophy syndrome
- Exact Synonym (Disease Ontology)
- short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
- OrphaNumber from OrphaNet (Orphanet)
- 3163
- MedGen concept unique identifier (MedGen Concept name)
- C0878684
- MedGen unique identifier (MedGen Concept name)
- 164212