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loading...| Preferred Name |
COMPLEMENT COMPONENT 5 DEFICIENCY |
| Synonyms |
C5D |
| ID |
http://purl.bioontology.org/ontology/OMIM/609536 |
| altLabel |
C5D C5 DEFICIENCY |
| cui |
C0343047 |
| Gene Locus |
9q34.1 |
| Gene Symbol |
C5D ECLZB C5 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU071703 http://purl.bioontology.org/ontology/OMIM/MTHU016290 http://purl.bioontology.org/ontology/OMIM/MTHU071707 http://purl.bioontology.org/ontology/OMIM/MTHU071705 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
609536 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
COMPLEMENT COMPONENT 5 DEFICIENCY |
| Scope Statement |
Caused by mutation in the complement component 5 gene (C5, 120900.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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