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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607624
http://purl.bioontology.org/ontology/OMIM/607624
|
|---|---|
| Preferred Name | GRISCELLI SYNDROME, TYPE 2 |
| Synonyms |
PAID SYNDROME
PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME
GS2
GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PAID SYNDROME
PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME
GS2
GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME
|
|---|---|
| prefLabel | GRISCELLI SYNDROME, TYPE 2
|
| Gene Symbol |
GS2
RAB27A
RAM
|
| Scope Statement | Caused by mutations in the Ras-associated protein RAB27A gene (RAB27A, 603868.0001) [MOLECULAR BASIS]
Clinical variability (intrafamilial in some cases) [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Multiorgan failure may result from HS [MISCELLANEOUS]
See also Griscelli syndrome type 1 (214450) for a similar disorder without immunological abnormalities and Griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities [MISCELLANEOUS]
Death in childhood [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 15q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 607624
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1868679
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| Moved from | 604228
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |