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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/193300
http://purl.bioontology.org/ontology/OMIM/193300
|
|---|---|
| Preferred Name | VON HIPPEL-LINDAU SYNDROME |
| Synonyms |
VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF
VHL
VHLS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF
VHL
VHLS
|
|---|---|
| prefLabel |
VON HIPPEL-LINDAU SYNDROME
|
| Gene Symbol |
VHL
|
| notation |
193300
|
| Scope Statement |
VHL type 2B - renal carcinoma and pheochromocytoma [MISCELLANEOUS]
VHL type 2C - pheochromocytoma only [MISCELLANEOUS]
VHL type 1 - renal carcinoma and hemangioblastoma [MISCELLANEOUS]
VHL type 2A - hemangioblastoma and pheochromocytoma [MISCELLANEOUS]
Incidence of 1 in 39,000 [MISCELLANEOUS]
Caused by mutation in the von Hippel-Lindau gene (VHL, 608537.0001) [MOLECULAR BASIS]
Highly variable phenotype, even within families [MISCELLANEOUS]
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| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
3p26-p25
|
| tui |
T047
T033
|
| cui |
C0019562
C2674004
|
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