cataract 38
cataract that has material basis in homozygous mutation in the AGK gene on chromosome 7q34
Facts
5 properties- Instance of
- rare disease, class of disease[2]
- Subclass of
- cataract, autosomal recessive disease[3][4]
- Health specialty
- medical genetics[5]
- On focus list of Wikimedia project
- WikiProject Medicine[7]
🏷️ Also known as
en autosomal recessive congenital cataract 5
en cataract 38
en CATARACT 38; CTRCT38
en Cataract, Autosomal Recessive Congenital 5
en Cataract type 38
en CATC5
en CTRCT38
🔖 Identifiers · 7
- Disease Ontology ID
- DOID:0110245
- Exact match
- purl.obolibrary.org, identifiers.org
- ICD-10-CM
- Q12.0
- Mondo ID
- MONDO_0013859
- OMIM ID
- 614691
- UMLS CUI
- C3553494
- UniProt disease ID
- DI-03473
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Summary
cataract 38 is a rare disease[1].