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loading...| Preferred Name |
RETINITIS PIGMENTOSA 74 |
| Synonyms |
RP74 |
| ID |
http://purl.bioontology.org/ontology/OMIM/616562 |
| altLabel |
RP74 |
| cui |
C4225281 |
| Gene Locus |
16q21 |
| Gene Symbol |
RP74 BBS2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007829 http://purl.bioontology.org/ontology/OMIM/MTHU052243 http://purl.bioontology.org/ontology/OMIM/MTHU034738 http://purl.bioontology.org/ontology/OMIM/MTHU052241 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU052242 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
616562 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RETINITIS PIGMENTOSA 74 |
| Scope Statement |
Caused by mutation in the BBS2 gene (BBS2, 606151.0018) [MOLECULAR BASIS] Moroccan Jewish and Ashkenazi Jewish families have been described [MISCELLANEOUS] No extraocular findings [MISCELLANEOUS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0110401 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0014692 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |