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loading...| Preferred Name |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 |
| Synonyms |
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS |
| ID |
http://purl.bioontology.org/ontology/OMIM/259730 |
| altLabel |
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS CARBONIC ANHYDRASE II DEFICIENCY MARBLE BRAIN DISEASE OPTB3 GUIBAUD-VAINSEL SYNDROME |
| cui |
C0345407 |
| Gene Locus |
8q22 |
| Gene Symbol |
CA2 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
259730 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536058 | Medical Subject Headings | CUI |