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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| 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 |
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| ID |
http://purl.bioontology.org/ontology/OMIM/150800 |
|
| 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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| cui |
C1708350
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| Gene Locus |
1q42.1
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| Gene Symbol |
FMRD HLRCC FH MCUL1
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU067250 http://purl.bioontology.org/ontology/OMIM/MTHU073461 http://purl.bioontology.org/ontology/OMIM/MTHU036902 http://purl.bioontology.org/ontology/OMIM/MTHU004301 http://purl.bioontology.org/ontology/OMIM/MTHU004302 http://purl.bioontology.org/ontology/OMIM/MTHU067249 http://purl.bioontology.org/ontology/OMIM/MTHU004309 http://purl.bioontology.org/ontology/OMIM/MTHU036903 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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| Moved from |
605839
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|
| notation |
150800
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|
| OMIM Entry Type |
3
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|
| OMIM MimType Value |
pound
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|
| prefLabel |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
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| 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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|
| tui |
T191
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