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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620962
http://purl.bioontology.org/ontology/OMIM/620962
|
|---|---|
| Preferred Name | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 |
| Synonyms |
PFIC13
MADDIREVULA-SHAGRANI-JI SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PFIC13
MADDIREVULA-SHAGRANI-JI SYNDROME
|
|---|---|
| prefLabel | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13
|
| Gene Symbol |
PFIC13
PSKH1
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Caused by mutation in the protein serine kinase H1 gene (PSKH1, 177015.0001) [MOLECULAR BASIS]
Most patients need a liver transplant [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q22.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620962
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975422
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |