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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610644
http://purl.bioontology.org/ontology/OMIM/610644
|
|---|---|
| Preferred Name | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL |
| Synonyms |
PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM
|
|---|---|
| prefLabel | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
|
| Gene Symbol |
RSPO1
FLJ40906
|
| Scope Statement | One consanguineous Italian family and 1 unrelated patient have been reported (last curated November 2016) [MISCELLANEOUS]
Caused by mutation in the R-spondin 1 gene (RSPO1, 609595.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p34.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 610644
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2674504
C3149931
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |