loading...| Preferred Name |
RETINOBLASTOMA |
|
| Synonyms |
RB1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/180200 |
|
| altLabel |
RB1 RB |
|
| cui |
C0035335 |
|
| Gene Locus |
13q14.1-q14.2 |
|
| Gene Symbol |
RB1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU009657 http://purl.bioontology.org/ontology/OMIM/MTHU018216 http://purl.bioontology.org/ontology/OMIM/MTHU007429 http://purl.bioontology.org/ontology/OMIM/MTHU015817 http://purl.bioontology.org/ontology/OMIM/MTHU015815 http://purl.bioontology.org/ontology/OMIM/MTHU053351 http://purl.bioontology.org/ontology/OMIM/MTHU015822 http://purl.bioontology.org/ontology/OMIM/MTHU015821 http://purl.bioontology.org/ontology/OMIM/MTHU009582 http://purl.bioontology.org/ontology/OMIM/MTHU008966 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
180200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
RETINOBLASTOMA |
|
| Scope Statement |
Incidence 1 in 15,000-28,000 births [MISCELLANEOUS] Approximately 40% of cases are inherited or new germline mutations [MISCELLANEOUS] Caused by mutation in the RB1 gene (RB1, 614041.0001) [MOLECULAR BASIS] Approximately 60% of cases are due to somatic mutations and are unilateral [MISCELLANEOUS] |
|
| tui |
T191 |