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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/614077
http://purl.bioontology.org/ontology/OMIM/614077
|
|---|---|
| Preferred Name | HERMANSKY-PUDLAK SYNDROME 8 |
| Synonyms |
HPS8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HPS8
|
|---|---|
| prefLabel | HERMANSKY-PUDLAK SYNDROME 8
|
| Gene Symbol |
BLOS3
HPS8
BLOC1S3
|
| notation | 614077
|
| Scope Statement | Caused by mutation in the biogenesis of lysosome-related organelles complex 1, subunit 3 gene (BLOC1S3, 609762.0001) [MOLECULAR BASIS]
|
| 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 | 19q13
|
| tui | T047
|
| cui | C3888026
|
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