cataract 6 multiple types
cataract that has material basis in heterozygous mutation in the EPHA2 gene on chromosome 1p36
Facts
5 properties- Instance of
- rare disease, class of disease[2]
- Subclass of
- cataract, autosomal dominant disease[3][4]
- Health specialty
- medical genetics[5]
- On focus list of Wikimedia project
- WikiProject Medicine[7]
🏷️ Also known as
en age related cortical cataract 2
en ARCC2
en cataract 6 multiple types
en CATARACT 6, MULTIPLE TYPES
en CATARACT 6, MULTIPLE TYPES; CTRCT6
en Cataract, Age-Related Cortical, 2
en Cataract, Posterior Polar, 1
en CTPP1
en CTRCT6
en posterior polar cataract 1
🔖 Identifiers · 8
- Disease Ontology ID
- DOID:0110229
- Exact match
- purl.obolibrary.org, identifiers.org
- GARD rare disease ID
- 10234
- ICD-10-CM
- Q12.0
- Mondo ID
- MONDO_0007288
- OMIM ID
- 116600
- UMLS CUI
- C1861825
- UniProt disease ID
- DI-02506
Press Enter · cited answer in seconds
0 sources
Summary
cataract 6 multiple types is a rare disease[1].