loading...| Preferred Name |
Familial Mediterranean Fever |
| Synonyms |
Periodic Diseases |
| 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 |
Periodic Diseases Polyserositides, Familial Paroxysmal Familial Paroxysmal Polyserositides Disease, Wolff Periodic Periodic Peritonitides Disease, Periodic Peritonitis, Periodic Periodic Disease, Wolff Benign Paroxysmal Peritonitis Wolff Periodic Disease Familial Mediterranean Fever, Autosomal Dominant Polyserositides, Recurrent Disease, Wolff's Periodic Peritonitides, Periodic Paroxysmal Peritonitis, Benign Paroxysmal Peritonitides, Benign Recurrent Polyserositides Polyserositis, Recurrent Familial Paroxysmal Polyserositis Recurrent Polyserositis Diseases, Periodic Wolffs Periodic Disease Periodic Disease Polyserositis, Familial Paroxysmal Benign Paroxysmal Peritonitides Familial Mediterranean Fever, Autosomal Recessive Periodic Disease, Wolff's Periodic Peritonitis Peritonitis, Benign Paroxysmal Periodic Disease, Wolffs Wolff's Periodic Disease Mediterranean Fever, Familial Paroxysmal Polyserositis, Familial Paroxysmal Polyserositides, Familial Peritonitides, Benign Paroxysmal |
| 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 |
C5399837 C1851347 C0031069 |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| 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 |
T811819 T764245 T811818 T764247 T764244 T806016 T811817 T031032 T368088 T031033 T031031 T368089 T764246 T368087 |
| TH |
NLM (2011) UNK (19XX) NLM (2000) NLM (1966) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |