Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CARBONIC ANHYDRASE II

Synonyms

CARBONIC ANHYDRASE II VARIANT

ID

http://purl.bioontology.org/ontology/OMIM/611492

altLabel

CARBONIC ANHYDRASE II VARIANT

CA II

CA2

CARBONIC ANHYDRASE B

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3

CARBONIC ANHYDRASE C, FORMERLY

cui

C0345407

C4017251

C1413043

Gene Locus

8q22

Gene Symbol

CA2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/611492.0001

http://purl.bioontology.org/ontology/OMIM/611492.0006

http://purl.bioontology.org/ontology/OMIM/611492.0008

http://purl.bioontology.org/ontology/OMIM/611492.0007

http://purl.bioontology.org/ontology/OMIM/611492.0002

http://purl.bioontology.org/ontology/OMIM/611492.0004

http://purl.bioontology.org/ontology/OMIM/611492.0003

http://purl.bioontology.org/ontology/OMIM/611492.0005

MIMTYPEMEANING

Gene with known sequence

notation

611492

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CARBONIC ANHYDRASE II

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/MESH/D024402 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C536058 Medical Subject Headings CUI