FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome ID (Ontology) DOID:0080163 (Human Disease)
Definition An autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the OTULIN gene on chromosome 5p15.
Also Known As "ORAS" ; "OTULIN-related autoinflammatory syndrome" ; "otulipenia"
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autosomal genetic disease
 |__autosomal recessive disease______________________________
autoinflammatory disease                                     |
 |__autoinflammation, panniculitis, and dermatosis syndrome__|
                                                             autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
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Is a autosomal recessive disease
autoinflammation, panniculitis, and dermatosis syndrome
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Synonyms
  • "autoinflammation, panniculitis and dermatosis syndrome" RELATED [] {comment="Initially, this term was used only for the autosomal recessive disease but, in 2024, a new autosomal dominant form was identified and its use broadened to encompass both [JAB, 2025-07-31]."}
    "ORAS" EXACT OMO:0003012
    "OTULIN-related autoinflammatory syndrome" EXACT
    "otulipenia" EXACT
Secondary IDs
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GARD:13198
MIM:617099
NCI:C174441
ORDO:500062
SNOMEDCT_US_2025_05_01:765435009
UMLS_CUI:C4310614