NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE

GOMM-BUTTON DISEASE

http://purl.bioontology.org/ontology/OMIM/608068

GOMM-BUTTON DISEASE

SS

PAAND

SWEET SYNDROME

PYRIN-ASSOCIATED AUTOINFLAMMATORY DISEASE

AFND

C0085077

16p13

FMF

MEFV

MEF

PAAND

http://purl.bioontology.org/ontology/OMIM/MTHU038674

http://purl.bioontology.org/ontology/OMIM/MTHU060356

http://purl.bioontology.org/ontology/OMIM/MTHU068585

http://purl.bioontology.org/ontology/OMIM/MTHU056029

http://purl.bioontology.org/ontology/OMIM/MTHU057693

http://purl.bioontology.org/ontology/OMIM/MTHU068629

http://purl.bioontology.org/ontology/OMIM/MTHU068627

http://purl.bioontology.org/ontology/OMIM/MTHU068625

http://purl.bioontology.org/ontology/OMIM/MTHU052783

http://purl.bioontology.org/ontology/OMIM/MTHU068631

http://purl.bioontology.org/ontology/OMIM/MTHU068630

http://purl.bioontology.org/ontology/OMIM/MTHU047702

http://purl.bioontology.org/ontology/OMIM/MTHU056026

http://purl.bioontology.org/ontology/OMIM/MTHU068624

http://purl.bioontology.org/ontology/OMIM/MTHU011701

http://purl.bioontology.org/ontology/OMIM/MTHU068626

http://purl.bioontology.org/ontology/OMIM/MTHU024710

http://purl.bioontology.org/ontology/OMIM/MTHU068628

http://purl.bioontology.org/ontology/OMIM/MTHU002772

Phenotype description, molecular basis known.

608068

3

pound

NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE

Variable expressivity [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Caused by mutation in the MEFV innate immunity regulator, pyrin gene (MEFV, 608107.0021) [MOLECULAR BASIS]

Onset in childhood [MISCELLANEOUS]

T047