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	familial mediterranean fever

Disease ID	62
Disease	familial mediterranean fever
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 result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.
Synonym	armenian disease benign paroxysmal peritonitides benign paroxysmal peritonitis disease, periodic disease, wolff periodic disease, wolff's periodic diseases, periodic fam mediterranean fever familial mediterranean fever (disorder) familial mediterranean fever [disease/finding] familial mediterranean fever, autosomal recessive familial paroxysmal polyserositides familial paroxysmal polyserositis familial recurrent polyserositis fmf fmf - familial mediterranean fever mediterranean familial fever mediterranean fever familial mediterranean fever, familial mef - familial mediterranean fever paroxysmal peritonitides, benign paroxysmal peritonitis, benign paroxysmal polyserositides, familial paroxysmal polyserositis paroxysmal polyserositis, familial periodic dis periodic dis wolffs periodic disease periodic disease, wolff periodic disease, wolff's periodic disease, wolffs periodic diseases periodic familial peritonitis periodic peritonitides periodic peritonitis periodic polyserositis peritonitides, benign paroxysmal peritonitides, periodic peritonitis, benign paroxysmal peritonitis, periodic polyserositides, familial paroxysmal polyserositides, recurrent polyserositis, familial paroxysmal polyserositis, recurrent recurrent polyserositides recurrent polyserositis reimann periodic disease siegal-cattan-mamou disease wolff periodic dis wolff periodic disease wolff's periodic disease wolffs periodic dis wolffs periodic disease
Orphanet	ORPHANET:342
OMIM	OMIM:249100
DOID	DOID:2987
UMLS	C0031069
MeSH	D010505
SNOMED-CT	SNOMEDCT_US_2016_09_01:12579009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:83) C0002726 \| amyloidosis \| 18 C0003864 \| arthritis \| 6 C0004153 \| atherosclerosis \| 3 C0003873 \| rheumatoid arthritis \| 3 C0014733 \| erysipelas \| 3 C0017658 \| glomerulonephritis \| 3 C0022661 \| end-stage renal failure \| 2 C0038013 \| ankylosing spondylitis \| 2 C0242490 \| enthesopathy \| 2 C0033687 \| proteinuria \| 2 C0035078 \| renal failure \| 2 C0027726 \| nephrotic syndrome \| 2 C0023418 \| leukemia \| 2 C0042384 \| vasculitis \| 2 C0039263 \| takayasu's arteritis \| 2 C1565489 \| renal insufficiency \| 1 C0031069 \| periodic peritonitis \| 1 C0553662 \| juvenile idiopathic arthritis \| 1 C0017178 \| gastrointestinal disorder \| 1 C0031036 \| polyarteritis nodosa \| 1 C0042870 \| vitamin d defic \| 1 C0021831 \| bowel disease \| 1 C0011570 \| depression \| 1 C0007570 \| celiac disease \| 1 C1377913 \| pleural mesothelioma \| 1 C0030920 \| peptic ulcer \| 1 C0001430 \| adenoma \| 1 C0032231 \| pleuritis \| 1 C0038012 \| spondylitis \| 1 C0034065 \| pulmonary embolism \| 1 C0023448 \| lymphocytic leukemia \| 1 C0027051 \| myocardial infarction \| 1 C0040053 \| thrombosis \| 1 C0038362 \| stomatitis \| 1 C0013902 \| hereditary elliptocytosis \| 1 C0034152 \| henoch-schonlein purpura \| 1 C0023895 \| liver disease \| 1 C0035579 \| hypovitaminosis d \| 1 C0023449 \| acute lymphocytic leukemia (all) \| 1 C0027719 \| nephrosclerosis \| 1 C0031350 \| pharyngitis \| 1 C0033860 \| psoriasis \| 1 C0032285 \| pneumonia \| 1 C0221239 \| rapidly progressive glomerulonephritis \| 1 C0010346 \| crohn's disease \| 1 C0022658 \| nephropathy \| 1 C0021843 \| intestinal obstruction \| 1 C0018099 \| gout \| 1 C0023530 \| leucopenia \| 1 C0016053 \| fibromyalgia syndrome \| 1 C0038363 \| aphthous stomatitis \| 1 C0042166 \| intermediate uveitis \| 1 C0085693 \| acute appendicitis \| 1 C0023470 \| myeloid leukemia \| 1 C0036202 \| sarcoidosis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0221238 \| mesangial proliferative glomerulonephritis \| 1 C0021390 \| inflammatory bowel disease \| 1 C0017178 \| gastrointestinal disorders \| 1 C0034150 \| purpura \| 1 C0021359 \| infertile \| 1 C0018021 \| goiter \| 1 C0027121 \| myositis \| 1 C0022336 \| creutzfeldt-jakob disease \| 1 C0004509 \| azoospermia \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0030920 \| peptic ulceration \| 1 C0521542 \| brain stem infarct \| 1 C0023449 \| acute lymphocytic leukemia \| 1 C0002986 \| anderson-fabry disease \| 1 C0031154 \| peritonitis \| 1 C0042164 \| uveitis \| 1 C0027051 \| myocardial infarct \| 1 C0023530 \| leukopenia \| 1 C0521542 \| brain stem infarction \| 1 C0031090 \| periodontal disease \| 1 C0545047 \| nephrogenic adenoma \| 1 C0023467 \| acute myeloid leukemia \| 1 C0042870 \| vitamin d deficiency \| 1 C0409974 \| lupus erythematosus \| 1 C0002986 \| fabry disease \| 1 C0015974 \| periodic fever \| 1 C0271270 \| cogan's syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 6288 \| SAA1 \| GHR 4210 \| MEFV \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 5243 \| ABCB1 \| CIPHER 728 \| C5AR1 \| CIPHER 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 4210 \| MEFV \| CIPHER;CTD_human 4282 \| MIF \| CIPHER 6288 \| SAA1 \| CIPHER 7124 \| TNF \| CIPHER 7132 \| TNFRSF1A \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 9447 \| AIM2 \| 2.026 \| DISEASES 1822 \| ATN1 \| 2.288 \| DISEASES 567 \| B2M \| 1.871 \| DISEASES 728 \| C5AR1 \| 1.359 \| DISEASES 79092 \| CARD14 \| 1.274 \| DISEASES 834 \| CASP1 \| 4.589 \| DISEASES 959 \| CD40LG \| 1.243 \| DISEASES 1621 \| DBH \| 1.199 \| DISEASES 2209 \| FCGR1A \| 1.351 \| DISEASES 3029 \| HAGH \| 1.367 \| DISEASES 3586 \| IL10 \| 1.316 \| DISEASES 3605 \| IL17A \| 1.024 \| DISEASES 3805 \| KIR2DL4 \| 1.519 \| DISEASES 3822 \| KLRC2 \| 1.034 \| DISEASES 3823 \| KLRC3 \| 2.303 \| DISEASES 196410 \| METTL7B \| 1.419 \| DISEASES 100507436 \| MICA \| 1.783 \| DISEASES 58484 \| NLRC4 \| 2.569 \| DISEASES 22861 \| NLRP1 \| 2.781 \| DISEASES 55655 \| NLRP2 \| 1.415 \| DISEASES 114548 \| NLRP3 \| 6.052 \| DISEASES 22953 \| P2RX2 \| 2.099 \| DISEASES 283871 \| PGP \| 2.684 \| DISEASES 5585 \| PKN1 \| 1.333 \| DISEASES 5586 \| PKN2 \| 1.075 \| DISEASES 9051 \| PSTPIP1 \| 4.932 \| DISEASES 6161 \| RPL32 \| 1.554 \| DISEASES 6283 \| S100A12 \| 2.794 \| DISEASES 6288 \| SAA1 \| 4.874 \| DISEASES 10572 \| SIVA1 \| 1.447 \| DISEASES 7052 \| TGM2 \| 1.248 \| DISEASES 7099 \| TLR4 \| 1.174 \| DISEASES 340061 \| TMEM173 \| 2.858 \| DISEASES 7124 \| TNF \| 3.298 \| DISEASES 7133 \| TNFRSF1B \| 2.905 \| DISEASES 7178 \| TPT1 \| 1.371 \| DISEASES 5987 \| TRIM27 \| 2.915 \| DISEASES 85363 \| TRIM5 \| 3.215 \| DISEASES 9322 \| TRIP10 \| 1.327 \| DISEASES 7752 \| ZNF200 \| 3.163 \| DISEASES 7760 \| ZNF213 \| 3.098 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) MEFV \| 16p13.3

Disease ID	62
Disease	familial mediterranean fever
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:45) HP:0100796 \| Orchitis HP:0002240 \| Enlarged liver HP:0001733 \| Pancreatitis HP:0002027 \| Abdominal pain HP:0002019 \| Constipation HP:0001287 \| Meningitis HP:0000093 \| Proteinuria HP:0002586 \| Peritonitis HP:0000083 \| Renal insufficiency HP:0005214 \| Intestinal obstruction HP:0001055 \| Erysipelas HP:0002102 \| Pleuritis HP:0002716 \| Lymphadenopathy HP:0002829 \| Arthralgia HP:0003326 \| Myalgia HP:0003565 \| Elevated erythrocyte sedimentation rate HP:0006554 \| Acute hepatic failure HP:0010783 \| Erythema HP:0001917 \| Renal amyloidosis HP:0002014 \| Diarrhea HP:0002745 \| Oral leukoplakia HP:0000112 \| Nephropathy HP:0002017 \| Nausea and vomiting HP:0000100 \| Nephrosis HP:0001541 \| Ascites HP:0002024 \| Malabsorption HP:0001250 \| Seizures HP:0002633 \| Vasculitis HP:0010741 \| Edema of the lower limbs HP:0001658 \| Myocardial infarction HP:0000121 \| Nephrocalcinosis HP:0011675 \| Arrhythmia HP:0002758 \| Osteoarthritis HP:0001945 \| Fever HP:0003565 \| Elevated sedimentation rate HP:0001701 \| Pericarditis HP:0000988 \| Skin rash HP:0001974 \| Leukocytosis HP:0001744 \| Splenomegaly HP:0005244 \| Gastrointestinal infarctions HP:0001369 \| Arthritis HP:0100749 \| Chest pain HP:0000100 \| Nephrotic syndrome HP:0001954 \| Increased body temperature, episodic HP:0002829 \| Arthralgias
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:53) HP:0011034 \| Amyloid disease \| 17 HP:0001369 \| Arthritis \| 6 HP:0001917 \| Renal amyloidosis \| 5 HP:0000083 \| Renal insufficiency \| 3 HP:0001250 \| Seizures \| 3 HP:0001370 \| Rheumatoid arthritis \| 3 HP:0002621 \| Atherosclerosis \| 3 HP:0010783 \| Erythema \| 3 HP:0000099 \| Glomerular nephritis \| 3 HP:0001055 \| Erysipelas \| 3 HP:0045073 \| Serositis \| 3 HP:0003774 \| End-stage renal failure \| 2 HP:0000093 \| Proteinuria \| 2 HP:0001945 \| Fever \| 2 HP:0012089 \| Arteritis \| 2 HP:0002633 \| Vasculitis \| 2 HP:0001909 \| Leukemia \| 2 HP:0000100 \| Nephrosis \| 2 HP:0011458 \| Abdominal symptom \| 1 HP:0002373 \| Febrile convulsions \| 1 HP:0000554 \| Uveitis \| 1 HP:0001997 \| Gout \| 1 HP:0002102 \| Pleuritis \| 1 HP:0000979 \| Purpura \| 1 HP:0009741 \| Thickening of kidney artiries \| 1 HP:0003765 \| Psoriasis \| 1 HP:0000853 \| Goitre \| 1 HP:0010280 \| Stomatitis \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0000716 \| Depression \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0002608 \| Celiac disease \| 1 HP:0005681 \| Juvenile idiopathic arthritis \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0000027 \| Azoospermia \| 1 HP:0004398 \| Peptic ulcer \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002586 \| Peritonitis \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0012124 \| Intermediate uveitis \| 1 HP:0011877 \| Increased mean platelet volume \| 1 HP:0000112 \| Nephropathy \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0001882 \| Decreased blood leukocyte number \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0100002 \| Pleural mesothelioma \| 1 HP:0002664 \| Neoplasia \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1

Disease ID	62
Disease	familial mediterranean fever
Manually Symptom	UMLS \| Name(Total Manually Symptoms:97) C2711029 \| hypothalamic-pituitary-adrenal axis dysfunction C2697310 \| sarcoidosis C2676454 \| h syndrome C2348101 \| destructive arthritis C1963274 \| vasculitis C1963229 \| retinal detachment C1963211 \| pericarditis C1963154 \| renal failure C1720771 \| hydrocele C1418941 \| creutzfeldt-jakob disease C1417325 \| multiple sclerosis C1402315 \| vascular lesions C1388642 \| temporomandibular arthritis C1333523 \| factor vii deficiency C1321542 \| azoospermia C1318520 \| necrotizing vasculitis C1313980 \| ischemic heart disease C1253937 \| pericardial effusion C1000483 \| anemia C0949691 \| spondyloarthropathy C0877259 \| testicular necrosis C0850666 \| helicobacter pylori infection C0746882 \| chronic neutropenia C0730345 \| microalbuminuria C0700376 \| pulmonary amyloidosis C0574960 \| sacroiliitis C0520679 \| obstructive sleep apnea C0497156 \| lymphadenopathy C0427008 \| stiffness C0403433 \| igm nephropathy C0341687 \| nephrotic syndrome in amyloidosis C0338474 \| central nervous system demyelination C0281479 \| systemic amyloidosis C0268958 \| acute orchitis C0268382 \| renal amyloidosis C0268382 \| nephropathic amyloidosis C0268382 \| amyloid nephropathy C0268381 \| al amyloidosis C0267797 \| acute hepatitis C0265122 \| pericardial disease C0231528 \| myalgia C0231528 \| muscle pains C0221014 \| secondary systemic amyloidosis C0221014 \| secondary amyloidosis C0221014 \| aa amyloidosis C0206062 \| interstitial lung disease C0151859 \| polyserositis C0085077 \| sweet's syndrome C0041834 \| erythema C0039103 \| synovitis C0037284 \| skin lesion C0034212 \| pyoderma C0032453 \| relapsing polychondritis C0032285 \| pneumonia C0031154 \| peritonitis C0031099 \| periodontitis C0031090 \| periodontal disease C0031048 \| constrictive pericarditis C0031036 \| polyarteritis nodosa C0031036 \| periarteritis nodosa C0030326 \| panniculitis C0029134 \| optic neuritis C0027726 \| nephrotic syndrome C0027121 \| inflammatory myopathy C0026848 \| myopathy C0025289 \| meningitis C0023530 \| leukopenia C0023222 \| leg pain C0022951 \| lactose malabsorption C0022661 \| end-stage renal disease C0022661 \| end stage renal disease C0022661 \| chronic renal failure C0022660 \| acute renal failure C0022658 \| nephropathy C0022408 \| arthropathy C0021843 \| intestinal obstructions C0020433 \| hyperbilirubinaemia C0018202 \| granulomatous vasculitis C0018021 \| goitre C0018021 \| goiter C0017661 \| iga nephropathy C0017658 \| glomerulonephritis C0016053 \| fibromyalgia C0014583 \| episcleritis C0013363 \| dysautonomia C0010346 \| crohn disease C0007286 \| carpal tunnel syndrome C0007138 \| urothelial carcinoma C0007095 \| carcinoid tumor C0004610 \| bacteremia C0004153 \| atherosclerosis C0004096 \| asthma C0003864 \| arthritis C0002726 \| amyloidosis C0001339 \| acute pancreatitis C0000737 \| abdominal pain C0000727 \| acute abdomen
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:25) C0002726 \| amyloidosis \| 17 C0003864 \| arthritis \| 6 C0268382 \| renal amyloidosis \| 5 C0268381 \| al amyloidosis \| 5 C0041834 \| erythema \| 3 C0221014 \| aa amyloidosis \| 3 C0017658 \| glomerulonephritis \| 3 C0004153 \| atherosclerosis \| 3 C0221014 \| secondary amyloidosis \| 2 C0027726 \| nephrotic syndrome \| 2 C0042384 \| vasculitis \| 2 C0035078 \| renal failure \| 2 C0031154 \| peritonitis \| 1 C0268382 \| amyloid nephropathy \| 1 C0022336 \| creutzfeldt-jakob disease \| 1 C0031036 \| polyarteritis nodosa \| 1 C0036202 \| sarcoidosis \| 1 C0700376 \| pulmonary amyloidosis \| 1 C0018021 \| goiter \| 1 C0031090 \| periodontal disease \| 1 C0022658 \| nephropathy \| 1 C0268380 \| systemic amyloidosis \| 1 C0023530 \| leukopenia \| 1 C0032285 \| pneumonia \| 1 C0004509 \| azoospermia \| 1

Manually Genotype(Total Manually Genotypes:8)
Gene	Mutation	DOI	Article Title
MEFV	V726A	doi:10.1038/gim.2016.30	Carrier screening in the era of expanding genetic technology
MEFV	p.V726A	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MEFV	p.K695R	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MEFV	p.E148Q	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MEFV	p.V726A24,25,26	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MEFV	p.M694I	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MEFV	p.M694V	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MEFV	p.M680I	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:97)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1045642	22194207	5243	ABCB1	umls:C0031069	BeFree	Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever.	0.006720033	2011	ABCB1	7	87509329	A	T,G
rs1045642	24773260	5243	ABCB1	umls:C0031069	BeFree	Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.	0.006720033	2015	ABCB1	7	87509329	A	T,G
rs104895076	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3254625	T	A
rs104895079	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3254567	C	G
rs104895080	11470495	4210	MEFV	umls:C0031069	UNIPROT	Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV).	0.752692203	2001	MEFV	16	3254380	C	T,G
rs104895081	16378925	4210	MEFV	umls:C0031069	UNIPROT	Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.	0.752692203	2005	MEFV	16	3254268	G	A
rs104895081	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3254268	G	A
rs104895083	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3247166	G	T,C
rs104895085	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243529	C	T
rs104895093	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243409	ATT	-
rs104895094	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243403	T	C,A
rs104895094	16730661	4210	MEFV	umls:C0031069	UNIPROT	Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).	0.752692203	2006	MEFV	16	3243403	T	C,A
rs104895094	10612841	4210	MEFV	umls:C0031069	UNIPROT	MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.	0.752692203	2000	MEFV	16	3243403	T	C,A
rs104895097	22351163	4210	MEFV	umls:C0031069	BeFree	Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.	0.752692203	2012	MEFV	16	3243205	C	T
rs104895097	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243205	C	T
rs104895105	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3247171	G	A
rs104895105	14679589	4210	MEFV	umls:C0031069	BeFree	A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?	0.752692203	2004	MEFV	16	3247171	G	A
rs104895144	25626331	4210	MEFV	umls:C0031069	BeFree	The mutation I259V (c.775A MEFV gene has not been reported in FMF patients with liver involvement.	0.752692203	2015	MEFV	16	3254293	T	C
rs1128503	22194207	5243	ABCB1	umls:C0031069	BeFree	Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever.	0.006720033	2011	ABCB1	7	87550285	A	G
rs1128503	24773260	5243	ABCB1	umls:C0031069	BeFree	Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.	0.006720033	2015	ABCB1	7	87550285	A	G
rs11466018	19967574	4210	MEFV	umls:C0031069	BeFree	A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.	0.752692203	2010	MEFV	16	3254739	A	G
rs11466018	10854105	4210	MEFV	umls:C0031069	UNIPROT	To address the question of their possible Jewish origin, we analysed markers known to be linked to the gene responsible for FMF in Jews (MEFV) in this population.	0.752692203	2000	MEFV	16	3254739	A	G
rs11466018	19531756	4210	MEFV	umls:C0031069	BeFree	Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.	0.752692203	2009	MEFV	16	3254739	A	G
rs11466018	24835548	4210	MEFV	umls:C0031069	BeFree	An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF.	0.752692203	2015	MEFV	16	3254739	A	G
rs11466023	10364520	4210	MEFV	umls:C0031069	UNIPROT	MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.	0.752692203	1999	MEFV	16	3249586	G	T,A
rs11466023	26027984	4210	MEFV	umls:C0031069	BeFree	A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed.	0.752692203	2016	MEFV	16	3249586	G	T,A
rs11466023	22351163	4210	MEFV	umls:C0031069	BeFree	Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.	0.752692203	2012	MEFV	16	3249586	G	T,A
rs11466023	23973724	4210	MEFV	umls:C0031069	BeFree	We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.	0.752692203	2013	MEFV	16	3249586	G	T,A
rs11466023	23861027	4210	MEFV	umls:C0031069	BeFree	She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsible for familial Mediterranean fever.	0.752692203	2014	MEFV	16	3249586	G	T,A
rs11466023	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3249586	G	T,A
rs11466024	23861027	4210	MEFV	umls:C0031069	BeFree	She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsible for familial Mediterranean fever.	0.752692203	2014	MEFV	16	3249468	C	T
rs11466024	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3249468	C	T
rs11466024	10364520	4210	MEFV	umls:C0031069	UNIPROT	MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.	0.752692203	1999	MEFV	16	3249468	C	T
rs11466026	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3248947	G	C,A
rs141829974	19657723	728	C5AR1	umls:C0031069	BeFree	Investigation of C5a receptor gene 450 C/T polymorphism in Turkish patients with familial Mediterranean fever.	0.002909916	2010	C5	9	121037923	G	A
rs150819742	26027984	4210	MEFV	umls:C0031069	BeFree	A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed.	0.752692203	2016	MEFV	16	3256338	C	G,T
rs224222	24718488	4210	MEFV	umls:C0031069	BeFree	R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases.	0.752692203	2014	MEFV	16	3254463	C	T
rs224222	18824843	4210	MEFV	umls:C0031069	BeFree	The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever.	0.752692203	2008	MEFV	16	3254463	C	T
rs224222	22771921	4210	MEFV	umls:C0031069	BeFree	The results of this study showed that there was a high association between MEFV gene R202Q polymorphism and FMF.	0.752692203	2012	MEFV	16	3254463	C	T
rs224222	23861027	4210	MEFV	umls:C0031069	BeFree	She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsible for familial Mediterranean fever.	0.752692203	2014	MEFV	16	3254463	C	T
rs28940578	10024914	4210	MEFV	umls:C0031069	UNIPROT	Pyrin/marenostrin mutations in familial Mediterranean fever.	0.752692203	1998	MEFV	16	3243405	C	T
rs28940578	20937419	4210	MEFV	umls:C0031069	BeFree	Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.	0.752692203	2011	MEFV	16	3243405	C	T
rs28940578	24593212	4210	MEFV	umls:C0031069	BeFree	Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.	0.752692203	2014	MEFV	16	3243405	C	T
rs28940578	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243405	C	T
rs28940578	22766764	4210	MEFV	umls:C0031069	BeFree	Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene, and we diagnosed familial Mediterranean fever.	0.752692203	2012	MEFV	16	3243405	C	T
rs28940578	16387839	4210	MEFV	umls:C0031069	BeFree	To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean fever (FMF) may play an opposite role in CHD and in longevity, we examined three FMF-associated mutations, M694V (A2080G), M694I (G2082A), and V726A (T2177C), encoded by the FMF gene (MEFV) in 121 patients affected by acute myocardial infarction (AMI), in 68 centenarians, and in 196 age-matched controls from Sicily.	0.752692203	2006	MEFV	16	3243405	C	T
rs28940578	22351163	4210	MEFV	umls:C0031069	BeFree	Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.	0.752692203	2012	MEFV	16	3243405	C	T
rs28940578	15805719	4210	MEFV	umls:C0031069	BeFree	A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I.	0.752692203	2005	MEFV	16	3243405	C	T
rs28940578	19531756	4210	MEFV	umls:C0031069	BeFree	Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.	0.752692203	2009	MEFV	16	3243405	C	T
rs28940578	15168590	4210	MEFV	umls:C0031069	BeFree	We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene.	0.752692203	2004	MEFV	16	3243405	C	T
rs28940579	10447272	4210	MEFV	umls:C0031069	BeFree	The MEFV gene involved in familial Mediterranean fever was recently cloned and four distinct sequence alterations (M680I, M694V, M6941 and V726A) were identified at the 3'-most exon.	0.752692203	1999	MEFV	16	3243310	A	T,G
rs28940579	10024914	4210	MEFV	umls:C0031069	UNIPROT	Pyrin/marenostrin mutations in familial Mediterranean fever.	0.752692203	1998	MEFV	16	3243310	A	T,G
rs28940579	16387839	4210	MEFV	umls:C0031069	BeFree	To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean fever (FMF) may play an opposite role in CHD and in longevity, we examined three FMF-associated mutations, M694V (A2080G), M694I (G2082A), and V726A (T2177C), encoded by the FMF gene (MEFV) in 121 patients affected by acute myocardial infarction (AMI), in 68 centenarians, and in 196 age-matched controls from Sicily.	0.752692203	2006	MEFV	16	3243310	A	T,G
rs28940579	22351163	4210	MEFV	umls:C0031069	BeFree	Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.	0.752692203	2012	MEFV	16	3243310	A	T,G
rs28940579	15724392	4210	MEFV	umls:C0031069	BeFree	The aim of this study is to evaluate the use of polymerase chain reaction (PCR) for diagnosis of FMF and to detect the prevalence of the most common MEFV gene (FMF gene) mutations, M694V and V726A in FMF Egyptian patients.	0.752692203	2004	MEFV	16	3243310	A	T,G
rs28940579	23973724	4210	MEFV	umls:C0031069	BeFree	We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.	0.752692203	2013	MEFV	16	3243310	A	T,G
rs28940579	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243310	A	T,G
rs28940580	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243447	C	T,G
rs28940580	23973724	4210	MEFV	umls:C0031069	BeFree	We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.	0.752692203	2013	MEFV	16	3243447	C	T,G
rs28940580	19967574	4210	MEFV	umls:C0031069	BeFree	A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.	0.752692203	2010	MEFV	16	3243447	C	T,G
rs28940580	22351163	4210	MEFV	umls:C0031069	BeFree	Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.	0.752692203	2012	MEFV	16	3243447	C	T,G
rs28940580	10447272	4210	MEFV	umls:C0031069	BeFree	The MEFV gene involved in familial Mediterranean fever was recently cloned and four distinct sequence alterations (M680I, M694V, M6941 and V726A) were identified at the 3'-most exon.	0.752692203	1999	MEFV	16	3243447	C	T,G
rs28940580	26347139	4210	MEFV	umls:C0031069	UNIPROT	The autophagic function of TRIM20 is affected by mutations associated with familial Mediterranean fever.	0.752692203	2015	MEFV	16	3243447	C	T,G
rs3743930	16439437	4210	MEFV	umls:C0031069	BeFree	Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.	0.752692203	2006	MEFV	16	3254626	C	G
rs3743930	18625654	4210	MEFV	umls:C0031069	BeFree	He was later found to carry E148Q polymorphism of MEFV, the gene responsible for familial Mediterranean fever.	0.752692203	2008	MEFV	16	3254626	C	G
rs3743930	21598804	4210	MEFV	umls:C0031069	BeFree	The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, and some authors even view it as a disease-insignificant polymorphism.	0.752692203	2011	MEFV	16	3254626	C	G
rs3743930	24835548	4210	MEFV	umls:C0031069	BeFree	An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF.	0.752692203	2015	MEFV	16	3254626	C	G
rs3743930	22766764	4210	MEFV	umls:C0031069	BeFree	Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene, and we diagnosed familial Mediterranean fever.	0.752692203	2012	MEFV	16	3254626	C	G
rs3743930	15805719	4210	MEFV	umls:C0031069	BeFree	A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I.	0.752692203	2005	MEFV	16	3254626	C	G
rs3743930	19531756	4210	MEFV	umls:C0031069	BeFree	Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.	0.752692203	2009	MEFV	16	3254626	C	G
rs3743930	12955725	4210	MEFV	umls:C0031069	BeFree	The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.	0.752692203	2003	MEFV	16	3254626	C	G
rs3743930	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3254626	C	G
rs3743930	19967574	4210	MEFV	umls:C0031069	BeFree	A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.	0.752692203	2010	MEFV	16	3254626	C	G
rs3743930	22351163	4210	MEFV	umls:C0031069	BeFree	Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed in 33 MDS patients, 47 AML patients and 65 healthy controls; none had a history or family history compatible with FMF.	0.752692203	2012	MEFV	16	3254626	C	G
rs3743930	16273767	4210	MEFV	umls:C0031069	BeFree	Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S).	0.752692203	2005	MEFV	16	3254626	C	G
rs3743930	23861027	4210	MEFV	umls:C0031069	BeFree	She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsible for familial Mediterranean fever.	0.752692203	2014	MEFV	16	3254626	C	G
rs3743930	18824843	4210	MEFV	umls:C0031069	BeFree	The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever.	0.752692203	2008	MEFV	16	3254626	C	G
rs3743930	22337722	4210	MEFV	umls:C0031069	BeFree	Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.	0.752692203	2012	MEFV	16	3254626	C	G
rs3743930	23973724	4210	MEFV	umls:C0031069	BeFree	We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.	0.752692203	2013	MEFV	16	3254626	C	G
rs3743930	10364520	4210	MEFV	umls:C0031069	UNIPROT	MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.	0.752692203	1999	MEFV	16	3254626	C	G
rs3743930	21210266	4210	MEFV	umls:C0031069	BeFree	This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene.	0.752692203	2011	MEFV	16	3254626	C	G
rs3743930	19026701	4210	MEFV	umls:C0031069	BeFree	We investigated a possible association between Kawasaki disease (KD), a systemic vasculitis of unknown etiology, or its coronary artery lesions (CAL) and MEFV gene variants including E148Q, the most common and mild mutation in the MEFV gene for familial Mediterranean fever or vasculitis-related disorders.	0.752692203	2009	MEFV	16	3254626	C	G
rs3743930	15717684	4210	MEFV	umls:C0031069	BeFree	Familial Mediterranean fever and E148Q pyrin gene mutation in Greece.	0.752692203	2005	MEFV	16	3254626	C	G
rs3743930	15458961	4210	MEFV	umls:C0031069	BeFree	E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.	0.752692203	2005	MEFV	16	3254626	C	G
rs3743930	20437121	4210	MEFV	umls:C0031069	BeFree	We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever.	0.752692203	2010	MEFV	16	3254626	C	G
rs3743930	15168590	4210	MEFV	umls:C0031069	BeFree	We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene.	0.752692203	2004	MEFV	16	3254626	C	G
rs4804049	19657723	728	C5AR1	umls:C0031069	BeFree	Investigation of C5a receptor gene 450 C/T polymorphism in Turkish patients with familial Mediterranean fever.	0.002909916	2010	C5AR1	19	47320227	T	C
rs4986790	20714796	7099	TLR4	umls:C0031069	BeFree	TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymorphisms and myeloid cell TLR-2 and TLR-4 expression with the development of secondary amyloidosis in FMF.	0.003181358	2011	TLR4	9	117713024	A	G
rs4986790	20714796	7097	TLR2	umls:C0031069	BeFree	TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymorphisms and myeloid cell TLR-2 and TLR-4 expression with the development of secondary amyloidosis in FMF.	0.003724241	2011	TLR4	9	117713024	A	G
rs5743708	20714796	7099	TLR4	umls:C0031069	BeFree	TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymorphisms and myeloid cell TLR-2 and TLR-4 expression with the development of secondary amyloidosis in FMF.	0.003181358	2011	TLR2	4	153705165	G	A
rs5743708	19597734	7097	TLR2	umls:C0031069	BeFree	HSP is seen more frequently in patients with familial Mediterranean fever in which TLR-2 Arg753Gln polymorphism frequency is increased.	0.003724241	2010	TLR2	4	153705165	G	A
rs5743708	20714796	7097	TLR2	umls:C0031069	BeFree	TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymorphisms and myeloid cell TLR-2 and TLR-4 expression with the development of secondary amyloidosis in FMF.	0.003724241	2011	TLR2	4	153705165	G	A
rs5743708	17013994	7097	TLR2	umls:C0031069	BeFree	Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the environment to the phenotype in a monogenic inflammatory disease.	0.003724241	2006	TLR2	4	153705165	G	A
rs61732874	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243257	C	A
rs61732874	16273767	4210	MEFV	umls:C0031069	BeFree	Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S).	0.752692203	2005	MEFV	16	3243257	C	A
rs61752717	NA	4210	MEFV	umls:C0031069	CLINVAR	NA	0.752692203	NA	MEFV	16	3243407	T	C,A
rs61754767	NA	4210	MEFV	umls:C0031069	UNIPROT	NA	0.752692203	NA	MEFV	16	3256464	G	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0006554	Acute hepatic failure	MP:0002628	hepatic steatosis	an accumulation of fat deposits in the liver
HP:0000083	Renal insufficiency	MP:0003335	exocrine pancreatic insufficiency	inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0002745	Oral leukoplakia	MP:0003751	oral leukoplakia	white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition
HP:0003565	Elevated erythrocyte sedimentation rate	MP:0008770	decreased survivor rate	a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls
HP:0010741	Edema of the lower limbs	MP:0009657	failure of chorioallantoic fusion	failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0005214	Intestinal obstruction	MP:0003587	ureter obstruction	a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic
HP:0002017	Nausea and vomiting	MP:0010426	abnormal heart and great artery attachment	any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta

Mapped by homologous gene(Total Items:42)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001945	Fever	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0006554	Acute hepatic failure	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002758	Osteoarthritis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0011675	Arrhythmia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001055	Erysipelas	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000112	Nephropathy	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0010783	Erythema	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0001369	Arthritis	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002633	Vasculitis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0010741	Edema of the lower limbs	MP:0013258	abnormal extracellular matrix morphology	any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002024	Malabsorption	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001287	Meningitis	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0100796	Orchitis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000093	Proteinuria	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001701	Pericarditis	MP:0011405	tubulointerstitial nephritis	diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease
HP:0000121	Nephrocalcinosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002014	Diarrhea	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002586	Peritonitis	MP:0011085	postnatal lethality, complete penetrance	premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)
HP:0002017	Nausea and vomiting	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001541	Ascites	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0005214	Intestinal obstruction	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002027	Abdominal pain	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000083	Renal insufficiency	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002102	Pleuritis	MP:0011405	tubulointerstitial nephritis	diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease
HP:0005244	Gastrointestinal infarctions	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001917	Renal amyloidosis	MP:0011085	postnatal lethality, complete penetrance	premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)
HP:0002745	Oral leukoplakia	MP:0013501	increased fibroblast apoptosis	increase in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0003565	Elevated erythrocyte sedimentation rate	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000100	Nephrotic syndrome	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001733	Pancreatitis	MP:0020134	abnormal gallbladder size	an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile
HP:0001658	Myocardial infarction	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0100749	Chest pain	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001954	Episodic fever	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001974	Leukocytosis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002019	Constipation	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0002716	Lymphadenopathy	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0000988	Skin rash	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells

Disease ID	62
Disease	familial mediterranean fever
Case	(Waiting for update.)