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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/150800
http://purl.bioontology.org/ontology/OMIM/150800
|
|---|---|
| Preferred Name | HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER |
| Synonyms |
HLRCC
MCUL1
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
LEIOMYOMA, MULTIPLE CUTANEOUS
MCL
LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY
LRCC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HLRCC
MCUL1
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
LEIOMYOMA, MULTIPLE CUTANEOUS
MCL
LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY
LRCC
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|---|---|
| prefLabel | HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
|
| Gene Symbol |
FMRD
HLRCC
FH
MCUL1
|
| Scope Statement | Cutaneous leiomyomas increase in number over time [MISCELLANEOUS]
Caused by mutation in the fumarate hydratase gene (FH, 136850.0003) [MOLECULAR BASIS]
Incomplete penetrance [MISCELLANEOUS]
Mean age of diagnosis of uterine leiomyomas is 30 years [MISCELLANEOUS]
Mean age of diagnosis of renal cell carcinoma is 46 years [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T191
|
| Gene Locus | 1q42.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 150800
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1708350
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| Moved from | 605839
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |