Autoinflammation, Panniculitis, and Dermatosis Syndrome

Preferred Label : Autoinflammation, Panniculitis, and Dermatosis Syndrome;

NCIt synonyms : Otulin-Related Autoinflammatory Syndrome; Otulipenia; ORAS; AIPDS;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.;

NCI Metathesaurus CUI : CL602021;

Details

Origin ID

C174441;

UMLS CUI

C4310614;

Currated CISMeF NLP mapping
- Autoinflammation, panniculitis, and dermatosis syndrome [OMIM Phenotype]
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome [ORDO Disease]
- OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) [SNOMED CT concept]
- otulipenia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoinflammation, panniculitis, and dermatosis syndrome [OMIM Phenotype]
- OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- OTULIN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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