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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618886
http://purl.bioontology.org/ontology/OMIM/618886
|
|---|---|
| Preferred Name | PSEUDO-TORCH SYNDROME 3 |
| Synonyms |
PTORCH3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PTORCH3
|
|---|---|
| prefLabel | PSEUDO-TORCH SYNDROME 3
|
| Gene Symbol |
STAT2
PTORCH3
IMD44
|
| Scope Statement | Episodic exacerbations, with or without concurrent infection [MISCELLANEOUS]
Multisystem disorder [MISCELLANEOUS]
Three patients from 2 unrelated consanguineous families have been reported (last curated May 2020) [MISCELLANEOUS]
Variable features [MISCELLANEOUS]
Death in infancy [MISCELLANEOUS]
Caused by mutation in the signal transducer and activator of transcription 2 gene (STAT2, 600556.0003) [MOLECULAR BASIS]
Onset in the neonatal period [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618886
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394391
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |