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Metadata
ID DOID:0090018
Name TNF receptor–associated periodic syndrome
Definition An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
https://www.ncbi.nlm.nih.gov/pubmed/10199409, https://www.ncbi.nlm.nih.gov/pubmed/7156325, https://www.nomidalliance.org/traps.php
Xrefs

GARD:8457

ICD10CM:E85.0

MIM:142680

ORDO:32960

Subsets

DO_rare_slim

Synonyms

autosomal dominant familial periodic fever [EXACT]

familial Hibernian fever [EXACT]

FHF [EXACT]

FPF [EXACT]

hibernian fever [EXACT]

TRAPS [EXACT]

tumor necrosis factor receptor associated periodic syndrome [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a autoinflammatory disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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