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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/259730
http://purl.bioontology.org/ontology/OMIM/259730
|
|---|---|
| Preferred Name | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 |
| Synonyms |
GUIBAUD-VAINSEL SYNDROME
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
CARBONIC ANHYDRASE II DEFICIENCY
OPTB3
MARBLE BRAIN DISEASE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GUIBAUD-VAINSEL SYNDROME
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
CARBONIC ANHYDRASE II DEFICIENCY
OPTB3
MARBLE BRAIN DISEASE
|
|---|---|
| prefLabel | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
| Gene Symbol | CA2
|
| Scope Statement | Caused by mutation in carbonic anhydrase II gene (CA2, 611492.0004) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 259730
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0345407
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |