cataract 22 multiple types
cataract that has material basis in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11
Facts
5 properties- Instance of
- rare disease, class of disease[2]
- Health specialty
- medical genetics[6]
- On focus list of Wikimedia project
- WikiProject Medicine[8]
🏷️ Also known as
en autosomal recessive congenital nuclear cataract 2
en cataract 22 multiple types
en CATARACT 22, MULTIPLE TYPES
en CATARACT 22, MULTIPLE TYPES; CTRCT22
en Cataract, Congenital Nuclear, Autosomal Recessive 2
en CATCN2
en CTRCT22
🔖 Identifiers · 8
- Disease Ontology ID
- DOID:0110268
- Exact match
- purl.obolibrary.org, identifiers.org
- ICD-10-CM
- Q12.0
- MeSH descriptor ID
- C565725
- Mondo ID
- MONDO_0012336
- OMIM ID
- 609741
- UMLS CUI
- C1857853
- UniProt disease ID
- DI-01233
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Summary
cataract 22 multiple types is a rare disease[1].