Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/180200 http://purl.bioontology.org/ontology/OMIM/180200
Preferred Name	RETINOBLASTOMA
Synonyms	RB1 RB
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RB1 RB
prefLabel	RETINOBLASTOMA
Gene Symbol	RB1
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]
type	http://www.w3.org/2002/07/owl#Class
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 http://purl.bioontology.org/ontology/OMIM/MTHU034783 http://purl.bioontology.org/ontology/OMIM/MTHU015816 See more See less
tui	T191
Gene Locus	13q14.1-q14.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	180200
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T191
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU002860
cui	C0035335
OMIM Entry Type	3
OMIM MimType Value	pound

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