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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301078
http://purl.bioontology.org/ontology/OMIM/301078
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED |
| Synonyms |
INFLAMMATION, NEUTROPENIA, BONE MARROW FAILURE, AND LYMPHOPROLIFERATION CAUSED BY TLR8
IMD98
INFLTR8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | INFLAMMATION, NEUTROPENIA, BONE MARROW FAILURE, AND LYMPHOPROLIFERATION CAUSED BY TLR8
IMD98
INFLTR8
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
|
| Gene Symbol |
IMD98
TLR8
|
| Scope Statement | De novo mutation (in some patients) [MISCELLANEOUS]
Onset in early childhood [MISCELLANEOUS]
Variable manifestations and severity [MISCELLANEOUS]
Caused by mutation in the Toll-like receptor 8 gene (TLR8, 300366.0001) [MOLECULAR BASIS]
Somatic mosaicism [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xp22.3-p22.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 301078
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676883
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| 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 |