Carbonic Anhydrase I Deficiency

Preferred Label : Carbonic Anhydrase I Deficiency;

NCIt definition : Decreased or absent activity of the enzyme carbonic anhydrase 1, due to loss-of-function mutation(s) in the gene CA1.;

Details

Origin ID

C132290;

UMLS CUI

C4015932;

Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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