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Entry Name Description Category Pathway Gene
H00044 Cancer of the anal canal ... infection is also associated with anal cancer. HPV infection is transient in most immunocompetent individuals, but HIV-positive patients have evidence of persistent HPV infection within the anal canal. Current ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
DCC (mutation) [HSA:1630] [KO:K06765]
APC (mutation) [HSA:324] [KO:K02085]
H00061 Prion disease
Creutzfeldt-Jacob disease (CJD)
Gerstmann-Straussler disease (GSD)
Gerstmann-Straussler-Scheinker disease (GSSD)
Fatal familial insomnia (FFI) 		... degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise ... Neurodegenerative disease hsa05020 Prion disease PRNP (mutation) [HSA:5621] [KO:K05634]
H00087 Other humoral immunodeficiencies ... heavy-chain genes (such as gamma1, 2, 3, or 4; alpha1 or 2; and epsilon) cause deficiencies of individual classes or subclasses of immunoglobulins, but circulating B cells are present and overall antibody ... Immune system disease DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
H00094 Immunodeficiency associated with DNA repair defects ... stability. A point mutational change in DNA ligase I was identified in a unique immunodeficient individual who suffered recurrent sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational ... Primary immunodeficiency ATM [HSA:472] [KO:K04728]
MRE11A [HSA:4361] [KO:K10865]
NBS1(Nibrin) [HSA:4683] [KO:K10867]
LIG1 [HSA:3978] [KO:K10747]
LIG4 [HSA:3981] [KO:K10777]
BLM [HSA:641] [KO:K10901]
MCM4 [HSA:4173] [KO:K02212]
(LICS) NSMCE3 [HSA:56160] [KO:K22823]
H00096 Defects of toll-like receptor signaling ... TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial role downstream of individual TLR and IL-1R receptors and upstream of TNF receptor-associated factor-6 (TRAF-6). Patients with ... Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H00097 WHIM syndrome ... neutropenia, hypogammaglobulinemia and susceptibility to human papillomavirus (HPV) infection. Affected individuals have mutations that variably truncate the cytoplasmic tail domain of CXC chemokine receptor 4 ... Primary immunodeficiency (WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
(WHIMS2) CXCR2 [HSA:3579] [KO:K05050]
H00106 Complement regulatory protein defects ... as angioedema (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous mutations within ... Primary immunodeficiency SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
CFI [HSA:3426] [KO:K01333]
CD55 [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
H00119 Congenital disorders of glycosylation type II ... compartments. Multiple subtypes have been identified although the numbers and forms of affected individuals with CDG-I are still much more. In contrast to type I, the type II patients show a more severe ... Inherited metabolic disorder (CDG2A) MGAT2 [HSA:4247] [KO:K00736]
(CDG2B) GCS1 [HSA:7841] [KO:K01228]
(CDG2C) SLC35C1 [HSA:55343] [KO:K15279]
(CDG2D) B4GALT1 [HSA:2683] [KO:K07966]
(CDG2E) COG7 [HSA:91949] [KO:K20294]
(CDG2F) SLC35A1 [HSA:10559] [KO:K15272]
(CDG2G) COG1 [HSA:9382] [KO:K20288]
(CDG2H) COG8 [HSA:84342] [KO:K20295]
(CDG2I) COG5 [HSA:10466] [KO:K20292]
(CDG2J) COG4 [HSA:25839] [KO:K20291]
(CDG2K) TMEM165 [HSA:55858] [KO:K23541]
(CDG2L) COG6 [HSA:57511] [KO:K20293]
(CDG2M) SLC35A2 [HSA:7355] [KO:K15272]
(CDG2N) SLC39A8 [HSA:64116] [KO:K14714]
(CDG2O) CCDC115 [HSA:84317] [KO:K23543]
(CDG2P) TMEM199 [HSA:147007] [KO:K23542]
(CDG2Q) COG2 [HSA:22796] [KO:K20289]
(CDG2R) ATP6AP2 [HSA:10159] [KO:K19514]
(CDG2S) ATP6AP1 [HSA:537] [KO:K03662]
(CDG2T) GALNT2 [HSA:2590] [KO:K00710]
(CDG2V) EDEM3 [HSA:80267] [KO:K10086]
(CDG2W) SLC37A4 [HSA:2542] [KO:K08171]
(CDG2Y) GET4 [HSA:51608] [KO:K23387]
(CDG2Z) CAMLG [HSA:819] [KO:K22385]
(CDG2AA) STX5 [HSA:6811] [KO:K08490]
(CDG2BB) COG3 [HSA:83548] [KO:K20290]
H00128 Mucopolysaccharidosis type I
Hurler-Scheie syndrome
Hurler syndrome
Scheie syndrome 		Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
H00137 Niemann-Pick disease type A/B ... including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity. Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00255 Hypogonadotropic hypogonadism ... groups based on the presence or absence of olfaction dysfunction. Around 50-60% of the affected individuals exhibit anosmia or hyposmia in association with idiopathic HH, defining Kallmann syndrome. Acquired ... Endocrine and metabolic disease (HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413]
(HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362]
(HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380]
(HH4/KAL4) PROK2 [HSA:60675] [KO:K24191]
(HH5/KAL5) CHD7 [HSA:55636] [KO:K14437]
(HH6/KAL6) FGF8 [HSA:2253] [KO:K04358]
(HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280]
(HH8) KISS1R [HSA:84634] [KO:K08374]
(HH9) NSMF [HSA:26012] [KO:K23844]
(HH10) TAC3 [HSA:6866] [KO:K05240]
(HH11) TACR3 [HSA:6870] [KO:K04224]
(HH12) GNRH1 [HSA:2796] [KO:K05252]
(HH13) KISS1 [HSA:3814] [KO:K23140]
(HH14) WDR11 [HSA:55717] [KO:K24260]
(HH15) HS6ST1 [HSA:9394] [KO:K02514]
(HH16) SEMA3A [HSA:10371] [KO:K06840]
(HH17) SPRY4 [HSA:81848] [KO:K17385]
(HH18) IL17RD [HSA:54756] [KO:K05167]
(HH19) DUSP6 [HSA:1848] [KO:K21946]
(HH20) FGF17 [HSA:8822] [KO:K04358]
(HH21) FLRT3 [HSA:23767] [KO:K16362]
(HH22) FEZF1 [HSA:389549] [KO:K24502]
(HH23/FEUNS) LHB [HSA:3972] [KO:K08521]
(HH24/IFSHD) FSHB [HSA:2488] [KO:K05250]
(HH25) NDNF [HSA:79625] [KO:K25687]
(HH26) TCF12 [HSA:6938] [KO:K15603]
(HH27) NHLH2 [HSA:4808] [KO:K09075]
H00256 Familial glucocorticoid deficiency ... disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency ... Endocrine and metabolic disease (FGD1) MC2R [HSA:4158] [KO:K04200]
(FGD2) MRAP [HSA:56246] [KO:K22398]
(FGD4) NNT [HSA:23530] [KO:K00323]
(FGD5) TXNRD2 [HSA:10587] [KO:K22182]
H00264 Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 		... demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT (CMTDI/CMTRI). Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis. Neurodegenerative disease (CMT1A/1E) PMP22 [HSA:5376] [KO:K19289]
(CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770]
(CMT1C) LITAF [HSA:9516] [KO:K19363]
(CMT1D/4E) EGR2 [HSA:1959] [KO:K12496]
(CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572]
(CMT1G) PMP2 [HSA:5375] [KO:K24977]
(CMT1H) FBLN5 [HSA:10516] [KO:K17340]
(CMT1I) POLR3B [HSA:55703] [KO:K03021]
(CMT1J) ITPR3 [HSA:3710] [KO:K04960]
(CMT2A1) KIF1B [HSA:23095] [KO:K10392]
(CMT2A2/6) MFN2 [HSA:9927] [KO:K06030]
(CMT2B) RAB7A [HSA:7879] [KO:K07897]
(CMT2B1) LMNA [HSA:4000] [KO:K12641]
(CMT2B2) PNKP [HSA:11284] [KO:K08073]
(CMT2C) TRPV4 [HSA:59341] [KO:K04973]
(CMT2CC) NEFH [HSA:4744] [KO:K04574]
(CMT2D) GARS1 [HSA:2617] [KO:K01880]
(CMT2DD) ATP1A1 [HSA:476] [KO:K01539]
(CMT2EE) MPV17 [HSA:4358] [KO:K13348]
(CMT2F) HSPB1 [HSA:3315] [KO:K04455]
(CMT2FF) CADM3 [HSA:57863] [KO:K06780]
(CMT2GG) GBF1 [HSA:8729] [KO:K18443]
(CMT2HH) JAG1 [HSA:182] [KO:K06052]
(CMT2II) SLC12A6 [HSA:9990] [KO:K14427]
(CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077]
(CMT2K) JPH1 [HSA:56704] [KO:K19530]
(CMT2L) HSPB8 [HSA:26353] [KO:K08879]
(CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484]
(CMT2N) AARS1 [HSA:16] [KO:K01872]
(CMT2O) DYNC1H1 [HSA:1778] [KO:K10413]
(CMT2P) LRSAM1 [HSA:90678] [KO:K10641]
(CMT2Q) DHTKD1 [HSA:55526] [KO:K15791]
(CMT2R) TRIM2 [HSA:23321] [KO:K11997]
(CMT2S) IGHMBP2 [HSA:3508] [KO:K19036]
(CMT2T) MME [HSA:4311] [KO:K01389]
(CMT2U) MARS1 [HSA:4141] [KO:K01874]
(CMT2V) NAGLU [HSA:4669] [KO:K01205]
(CMT2W) HARS1 [HSA:3035] [KO:K01892]
(CMT2X) SPG11 [HSA:80208] [KO:K19026]
(CMT2Y) VCP [HSA:7415] [KO:K13525]
(CMT2Z) MORC2 [HSA:22880] [KO:K24135]
(CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
(CMT4B2) SBF2 [HSA:81846] [KO:K18061]
(CMT4B3) SBF1 [HSA:6305] [KO:K18061]
(CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313]
(CMT4D) NDRG1 [HSA:10397] [KO:K18266]
(CMT4F) PRX [HSA:57716] [KO:K27395]
(CMT4H) FGD4 [HSA:121512] [KO:K05723]
(CMT4J) FIG4 [HSA:9896] [KO:K22913]
(CMT4K) SURF1 [HSA:6834] [KO:K14998]
(CMT6B) SLC25A46 [HSA:91137] [KO:K03454]
(CMT6C) PDXK [HSA:8566] [KO:K00868]
(CMTX1) GJB1 [HSA:2705] [KO:K07620]
(CMTX5) PRPS1 [HSA:5631] [KO:K00948]
(CMTX6) PDK3 [HSA:5165] [KO:K00898]
(CMTDIC) YARS1 [HSA:8565] [KO:K01866]
(CMTDIE) INF2 [HSA:64423] [KO:K23958]
(CMTDIF) GNB4 [HSA:59345] [KO:K04538]
(CMTRIB) KARS1 [HSA:3735] [KO:K04567]
(CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
(CMTRID) COX6A1 [HSA:1337] [KO:K02266]
H00281 GM1 gangliosidosis ... There are three main clinical variants, infantile (type I), juvenile (type II), and adult (type III), categorized by severity of symptoms and variable residual enzymatic activity of beta-galactosidase. Inherited metabolic disorder, Lysosomal disease GLB1 [HSA:2720] [KO:K12309]
H00286 Crohn disease ... disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals. Additional genes associated with the disease are recently being identified. Immune system disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD1) IL6 [HSA:3569] [KO:K05405]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
H00314 Meningococcal infection ... colonizer of the human upper respiratory tract, and most adults are resistant to infection through acquired immunity. In susceptible individuals, it causes meningococcal meningitis and severe septicemia. Bacterial infectious disease
H00316 Glanders ... of equines that can be transmitted to humans. It is usually an occupational disease, affecting individuals in contact with infected animals such as veterinarians, grooms, and farmers. The causative agent ... Bacterial infectious disease
H00341 Mycoplasma pneumonia ... infection both endemically and epidemically worldwide. Most infections are mild, but a small proportion of infected individuals may develop serious pneumonia due to an enhanced host cellular immune response. Bacterial infectious disease
H00346 Extrinsic allergic alveolitis
Hypersensitivity pneumonitis 		... manifestations and symptoms can be complicated by self-regulatory measures performed by those affected individuals to reduce antigen exposure. There are many individuals with a positive antibody reaction who remain ... Immune system disease
H00358 Chagas disease
American trypanosomiasis 		... by hematophagous reduviid insect vectors through fecal contamination. The majority of infected individuals live in Latin American countries. Chagas disease is characterized by an acute phase followed by ... Parasitic infectious disease hsa05142 Chagas disease
H00360 Amoebiasis ... Central and South America and Africa are at highest risk of infection. Although the majority of individuals infected with E. histolytica remain asymptomatic, some present with amoebic colitis and disseminated ... Parasitic infectious disease hsa05146 Amoebiasis
H00362 Giardiasis
Lambliasis 		... transmitted by ingestion of contaminated water or food, or by person-to-person contact, affecting children, pregnant women, the immunocompromised individuals, and people living with poor sanitation facilities. Parasitic infectious disease
H00368 Cytomegalovirus infection
CMV infection 		... double-stranded DNA virus of the Herpesviridae family acquired by late childhood in the majority of individuals. Primary infection is nonspecific but after that the virus becomes latent in multiple organs and ... Viral infectious disease hsa05163 Human cytomegalovirus infection
H00370 Progressive multifocal leukoencephalopathy ... characterized by destruction of oligodendrocytes by the JC polyomavirus that occurs in immunosuppressed individuals such as patients with AIDS. Patients with PML show white matter lesions on head computed tomography ... Viral infectious disease
H00371 Adenovirus infection ... gastrointestinal tracts, eye, and kidney. Ads are rarely associated with severe clinical symptoms in healthy individuals. In contrast, in the pediatric population, military recruits, and immunocompromised individuals ... Viral infectious disease
H00401 Respiratory syncytial virus infection
RSV infection 		... respiratory tract illness in infants and young children. It affects the elderly and immunocompromised individuals as well. Although RSV was discovered half a century ago, no effective treatment for the infection ... Viral infectious disease
H00403 Disorders of nucleotide excision repair ... blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE-2) DDB1 [HSA:1642] [KO:K10610]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
(TTD) GTF2H5 [HSA:404672] [KO:K10845]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H00417 Alstrom syndrome ... hyperinsulinemia, and hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS ... Congenital malformation ALMS1 [HSA:7840] [KO:K16741]
H00421 Mucopolysaccharidosis Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
(MPS2) IDS [HSA:3423] [KO:K01136]
(MPS3A) SGSH [HSA:6448] [KO:K01565]
(MPS3B) NAGLU [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT [HSA:138050] [KO:K10532]
(MPS3D) GNS [HSA:2799] [KO:K01137]
(MPS4A) GALNS [HSA:2588] [KO:K01132]
(MPS4B) GLB1 [HSA:2720] [KO:K12309]
(MPS6) ARSB [HSA:411] [KO:K01135]
(MPS7) GUSB [HSA:2990] [KO:K01195]
(MPS9) HYAL1 [HSA:3373] [KO:K01197]
(MPS10) ARSK [HSA:153642] [KO:K12376]
H00427 Relapsing fever ... problems in Africa. The symptoms are variable. Although relapsing fever is considered a transient disease, it persists as a residual infection in the brain, which can be reactivated on immunosuppression. Bacterial infectious disease
H00430 Fibrodysplasia ossificans progressiva ... muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP ... Musculoskeletal disease ACVR1 [HSA:90] [KO:K04675]
H00435 Toxoplasmosis ... from feline feces. The parasite usually causes asymptomatic infection but in immunocompromised individuals, it can result in fatal disease with encephalitis. Transmission can also occur vertically. Congenital ... Parasitic infectious disease hsa05145 Toxoplasmosis
H00453 Branchio-oto-renal syndrome
BOR syndrome 		... overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor ... Congenital malformation (BOR1/BO1) EYA1 [HSA:2138] [KO:K15616]
(BOR2) SIX5 [HSA:147912] [KO:K19474]
(BO3) SIX1 [HSA:6495] [KO:K15614]
H00467 Fibular hypoplasia and complex brachydactyly
Du Pan syndrome
Acromesomelic dysplasia 2B 		... (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported to be homozygous for a GDF5 missense mutation. Congenital malformation GDF5 [HSA:8200] [KO:K04664]
H00470 Acromesomelic dysplasia, Maroteaux type ... type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have ... Congenital malformation NPR2 [HSA:4882] [KO:K12324]
H00503 Ellis-van Creveld syndrome Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular ... Congenital malformation EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]
H00506 Osteogenesis imperfecta ... mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with OI. Mutations in the other genes have been recently identified. Congenital malformation (OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
(OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
(OI5) IFITM5 [HSA:387733] [KO:K06566]
(OI6) SERPINF1 [HSA:5176] [KO:K19614]
(OI7) CRTAP [HSA:10491] [KO:K19606]
(OI8) P3H1 [HSA:64175] [KO:K08134]
(OI9) PPIB [HSA:5479] [KO:K03768]
(OI10) SERPINH1 [HSA:871] [KO:K09501]
(OI11) FKBP10 [HSA:60681] [KO:K09575]
(OI12) SP7 [HSA:121340] [KO:K09197]
(OI13) BMP1 [HSA:649] [KO:K05502]
(OI14) TMEM38B [HSA:55151] [KO:K24013]
(OI15) WNT1 [HSA:7471] [KO:K03209]
(OI16) CREB3L1 [HSA:90993] [KO:K09048]
(OI17) SPARC [HSA:6678] [KO:K24262]
(OI18) TENT5A [HSA:55603] [KO:K23033]
(OI19) MBTPS2 [HSA:51360] [KO:K07765]
(OI20) MESD [HSA:23184] [KO:K25366]
(OI21) KDELR2 [HSA:11014] [KO:K10949]
(OI22) CCDC134 [HSA:79879] [KO:K25417]
(OI23) PHLDB1 [HSA:23187] [KO:K23794]
H00510 Feingold syndrome ... syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour ... Congenital malformation (FGLDS1) MYCN [HSA:4613] [KO:K09109]
(FGLDS2) MIR17HG [HSA:407975]
H00519 Spondyloepiphyseal dysplasia congenita ... disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities ... Congenital malformation COL2A1 [HSA:1280] [KO:K19719]
H00526 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Jacobs syndrome 		... a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions Congenital malformation PRG4 [HSA:10216] [KO:K24286]
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