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loading...| Preferred Name |
BARDET-BIEDL SYNDROME 7 |
| Synonyms |
BBS7 |
| ID |
http://purl.bioontology.org/ontology/OMIM/615984 |
| altLabel |
BBS7 |
| cui |
C1859565 |
| Gene Locus |
4q27 |
| Gene Symbol |
BBS7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU047527 http://purl.bioontology.org/ontology/OMIM/MTHU006627 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU000250 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
615984 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
BARDET-BIEDL SYNDROME 7 |
| Scope Statement |
Limited clinical information provided on patients with BBS7 mutations [MISCELLANEOUS] Caused by mutation in the BBS7 gene (BBS7, 607590.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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