loading...| Preferred Name | PSORIASIS 14, PUSTULAR | |
| Synonyms |
GPP DITRA PALMOPLANTAR PUSTULOSIS PSORP ACRODERMATITIS CONTINUA OF HALLOPEAU INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY GENERALIZED PUSTULAR PSORIASIS PSORS14 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/614204 |
|
| altLabel |
GPP DITRA PALMOPLANTAR PUSTULOSIS PSORP ACRODERMATITIS CONTINUA OF HALLOPEAU INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY GENERALIZED PUSTULAR PSORIASIS PSORS14 |
|
| cui |
C4759670 C0392439 |
|
| Gene Locus |
2q13 |
|
| Gene Symbol |
IL1F5 IL36RN PSORS14 PSORP IL1HY1 IL1RP3 FIL1D |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU035360 http://purl.bioontology.org/ontology/OMIM/MTHU036684 http://purl.bioontology.org/ontology/OMIM/MTHU069241 http://purl.bioontology.org/ontology/OMIM/MTHU003000 http://purl.bioontology.org/ontology/OMIM/MTHU041499 http://purl.bioontology.org/ontology/OMIM/MTHU035358 http://purl.bioontology.org/ontology/OMIM/MTHU027051 http://purl.bioontology.org/ontology/OMIM/MTHU008216 http://purl.bioontology.org/ontology/OMIM/MTHU035359 http://purl.bioontology.org/ontology/OMIM/MTHU035364 http://purl.bioontology.org/ontology/OMIM/MTHU035357 http://purl.bioontology.org/ontology/OMIM/MTHU036659 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
614204 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PSORIASIS 14, PUSTULAR |
|
| 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] |
|
| tui |
T047 |