Potocki-Lupski syndrome
Information
- Disease name
- Potocki-Lupski syndrome
- Disease ID
- DOID:0060853
- Description
- "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615134, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425816]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060429
- Cross Reference ID (Disease Ontology)
- GARD:10145
- Cross Reference ID (Disease Ontology)
- MESH:C538355
- Cross Reference ID (Disease Ontology)
- MIM:610883
- Cross Reference ID (Disease Ontology)
- NCI:C124846
- Cross Reference ID (Disease Ontology)
- ORDO:1713
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:734016004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C2931246
- Exact Synonym (Disease Ontology)
- 17p11.2 microduplication syndrome
- Exact Synonym (Disease Ontology)
- chromosome 17p11.2 duplication syndrome
- Exact Synonym (Disease Ontology)
- trisomy 17p11.2