loading...| Preferred Name |
Familial Mediterranean Fever |
|
| Synonyms |
Familial Paroxysmal Polyserositis |
|
| Definitions |
A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D010505 |
|
| altLabel |
Familial Paroxysmal Polyserositis Wolff's Periodic Disease Periodic Peritonitides Peritonitides, Periodic Wolff Periodic Disease Paroxysmal Polyserositides, Familial Benign Paroxysmal Peritonitis Familial Paroxysmal Polyserositides Peritonitides, Benign Paroxysmal Paroxysmal Polyserositis, Familial Peritonitis, Periodic Familial Mediterranean Fever, Autosomal Dominant Disease, Wolff's Periodic Periodic Disease Periodic Disease, Wolff's Periodic Diseases Recurrent Polyserositides Wolffs Periodic Disease Benign Paroxysmal Peritonitides Polyserositis, Familial Paroxysmal Diseases, Periodic Disease, Periodic Periodic Disease, Wolff Recurrent Polyserositis Polyserositides, Recurrent Polyserositis, Recurrent Peritonitis, Benign Paroxysmal Periodic Peritonitis Mediterranean Fever, Familial Disease, Wolff Periodic Polyserositides, Familial Paroxysmal Paroxysmal Peritonitis, Benign Periodic Disease, Wolffs Paroxysmal Peritonitides, Benign Familial Mediterranean Fever, Autosomal Recessive |
|
| AN |
a specific disease entity: do not use entry term PERIODIC DISEASE for periodically occurring disease (= PERIODICITY (IM) + disease (IM)) |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0031069 C5399837 C1851347 |
|
| DC |
1 |
|
| definition |
A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene. |
|
| DX |
20000101 |
|
| HN |
2000 (1966) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2000; see PERIODIC DISEASE 1966-1999; for FAMILIAL MEDITERRANEAN FEVER see PERIODIC DISEASE 1966-1999 |
|
| MDA |
19990101 |
|
| MMR |
20210510 |
|
| MN |
C16.320.382.625 |
|
| notation |
D010505 |
|
| prefLabel |
Familial Mediterranean Fever |
|
| TERMUI |
T031031 T764246 T811818 T764244 T764245 T368087 T031032 T368088 T031033 T764247 T806016 T811817 T811819 T368089 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1966) UNK (19XX) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |