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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613002
http://purl.bioontology.org/ontology/OMIM/613002
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS |
| Synonyms |
IMD83
IIAE2
PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
IMD83
IIAE2
PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS
|
| Gene Symbol |
IMD83
TLR3
|
| Scope Statement | Caused by mutation in the Toll-like receptor 3 gene (TLR3, 603029.0001) [MOLECULAR BASIS]
Some patients have recurrent episodes [MISCELLANEOUS]
Variable age at onset (range childhood to adult) [MISCELLANEOUS]
Favorable response to acyclovir [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui |
T047
T033
|
| Gene Locus | 4q35
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613002
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5562079
C2751803
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |