pontocerebellar hypoplasia type 6
Information
- Disease name
- pontocerebellar hypoplasia type 6
- Disease ID
- DOID:0060275
- Description
- "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene." [url:https\://www.omim.org/entry/611523]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060264
- Cross Reference ID (Disease Ontology)
- GARD:10710
- Cross Reference ID (Disease Ontology)
- MESH:C548074
- Cross Reference ID (Disease Ontology)
- MIM:611523
- Cross Reference ID (Disease Ontology)
- ORDO:166073
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:718606005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1969084
- OrphaNumber from OrphaNet (Orphanet)
- 166073