snowflake vitreoretinal degeneration
Information
- Disease name
- snowflake vitreoretinal degeneration
- Disease ID
- DOID:0111570
- Description
- "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18179896, url:https\://www.ncbi.nlm.nih.gov/pubmed/4812083]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:9799
- Cross Reference ID (Disease Ontology)
- GARD:9706
- Cross Reference ID (Disease Ontology)
- MESH:C536677
- Cross Reference ID (Disease Ontology)
- MIM:193230
- Cross Reference ID (Disease Ontology)
- ORDO:91496
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1860405
- Exact Synonym (Disease Ontology)
- SVD
- Exact Synonym (Disease Ontology)
- vitreoretinal degeneration, snowflake type
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0011533
- OrphaNumber from OrphaNet (Orphanet)
- 91496
- MedGen concept unique identifier (MedGen Concept name)
- C0339443
- MedGen unique identifier (MedGen Concept name)
- 488846