Experimental Factor Ontology

Last uploaded: September 16, 2024
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Preferred Name

psoriasis 14, pustular
Synonyms

generalized pustular psoriasis

generalised pustular psoriasis

GPP

palmoplantar pustulosis

deficiency of the interleukin-36 receptor antagonist

IL36RN psoriasis

Interleukin 36 receptor antagonist deficiency

familial generalised pustular psoriasis

acrodermatitis continua suppurativa of Hallopeau

deficiency of IL-36R antagonist

familial generalized pustular psoriasis

deficiency of IL-36Ra

acrodermatitis continua of Hallopeau

psoriasis caused by mutation in IL36RN

psoriasis 14, pustular

DITRA

PSORP

PSORS14
Definitions

Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.
ID

http://purl.obolibrary.org/obo/MONDO_0013626
database_cross_reference

NCIT:C119057

MEDGEN:581114

Orphanet:163931

OMIM:614204

DOID:0080474

UMLS:C0392439

Orphanet:404546

NANDO:2200452

NANDO:1200244

SCTID:83839005

SCTID:238612002

GARD:17679

ICD9:696.1
definition

Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.
exactMatch

http://purl.obolibrary.org/obo/NCIT_C119057

https://omim.org/entry/614204

http://www.orpha.net/ORDO/Orphanet_163931

http://linkedlifedata.com/resource/umls/id/C0392439

http://www.orpha.net/ORDO/Orphanet_404546

http://identifiers.org/medgen/581114

http://identifiers.org/snomedct/83839005

http://purl.obolibrary.org/obo/DOID_0080474
has_broad_synonym

palmoplantar pustulosis
has_exact_synonym

deficiency of the interleukin-36 receptor antagonist

IL36RN psoriasis

Interleukin 36 receptor antagonist deficiency

familial generalised pustular psoriasis

acrodermatitis continua suppurativa of Hallopeau

deficiency of IL-36R antagonist

familial generalized pustular psoriasis

deficiency of IL-36Ra

acrodermatitis continua of Hallopeau

psoriasis caused by mutation in IL36RN

psoriasis 14, pustular

DITRA

PSORP

PSORS14
has_related_synonym

generalized pustular psoriasis

generalised pustular psoriasis

GPP
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/2829

https://github.com/monarch-initiative/mondo/issues/4496
id

MONDO:0013626
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare
label

psoriasis 14, pustular
notation

MONDO:0013626
preferred label

psoriasis 14, pustular
prefLabel

psoriasis 14, pustular
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019299
subClassOf

http://purl.obolibrary.org/obo/MONDO_0023603

http://www.ebi.ac.uk/efo/EFO_0000676

http://purl.obolibrary.org/obo/MONDO_0019751

http://purl.obolibrary.org/obo/MONDO_0019268
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