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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/263400
http://purl.bioontology.org/ontology/OMIM/263400
|
|---|---|
| Preferred Name | ERYTHROCYTOSIS, FAMILIAL, 2 |
| Synonyms |
POLYCYTHEMIA, CHUVASH TYPE
POLYCYTHEMIA, VHL-DEPENDENT
ECYT2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
POLYCYTHEMIA, CHUVASH TYPE
POLYCYTHEMIA, VHL-DEPENDENT
ECYT2
|
|---|---|
| prefLabel | ERYTHROCYTOSIS, FAMILIAL, 2
|
| Gene Symbol | VHL
|
| Scope Statement | Caused by mutation in the VHL gene (VHL, 608537.0014) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Variable age at onset (range birth to 22 years) [MISCELLANEOUS]
The Chuvash form (associated with the R200W mutation) has a milder phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p26-p25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 263400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1837915
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |