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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617475
http://purl.bioontology.org/ontology/OMIM/617475
|
|---|---|
| Preferred Name | SPECIFIC GRANULE DEFICIENCY 2 |
| Synonyms |
SGD2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SGD2
|
|---|---|
| prefLabel | SPECIFIC GRANULE DEFICIENCY 2
|
| Gene Symbol |
SGD2
SMARCD2
BAF60B
|
| Scope Statement | Extra-hematopoietic features are variable [MISCELLANEOUS]
Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2 gene (SMARCD2, 601736.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Death in early childhood unless hematopoietic stem cell transplant is performed [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q23-q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617475
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479548
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |