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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/614204
http://purl.bioontology.org/ontology/OMIM/614204
|
|---|---|
| Preferred Name | PSORIASIS 14, PUSTULAR |
| Synonyms |
GPP
DITRA
PALMOPLANTAR PUSTULOSIS
PSORP
ACRODERMATITIS CONTINUA OF HALLOPEAU
INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY
GENERALIZED PUSTULAR PSORIASIS
PSORS14
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GPP
DITRA
PALMOPLANTAR PUSTULOSIS
PSORP
ACRODERMATITIS CONTINUA OF HALLOPEAU
INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY
GENERALIZED PUSTULAR PSORIASIS
PSORS14
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|
|---|---|
| prefLabel |
PSORIASIS 14, PUSTULAR
|
| Gene Symbol |
IL1F5
IL36RN
PSORS14
PSORP
IL1HY1
IL1RP3
FIL1D
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|
| notation |
614204
|
| Scope Statement |
Caused by mutation in the interleukin-36 receptor antagonist gene (IL36RN, 605507.0001) [MOLECULAR BASIS]
Most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules [MISCELLANEOUS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
2q13
|
| tui |
T047
|
| cui |
C4759670
C0392439
|
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