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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618752
http://purl.bioontology.org/ontology/OMIM/618752
|
|---|---|
| Preferred Name | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT |
| Synonyms |
SDSL
NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT, WITH OR WITHOUT PANCREATIC DYSFUNCTION AND/OR NEUROLOGIC ABNORMALITIES
SHWACHMAN-DIAMOND SYNDROME-LIKE
SCN8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SDSL
NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT, WITH OR WITHOUT PANCREATIC DYSFUNCTION AND/OR NEUROLOGIC ABNORMALITIES
SHWACHMAN-DIAMOND SYNDROME-LIKE
SCN8
|
|---|---|
| prefLabel | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
|
| Gene Symbol |
SCN8
SRP54
|
| Scope Statement | Treatment with G-CSF is partially or not effective [MISCELLANEOUS]
De novo mutation (in some patients) [MISCELLANEOUS]
Two main phenotypic categories (group A and group B) [MISCELLANEOUS]
Caused by mutation in the signal recognition particle, 54-kD gene (SRP54, 604857.0001) [MOLECULAR BASIS]
Patients in group A have normal psychomotor development [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Patients in group B have delayed development and/or autistic features [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618752
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5203411
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |