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Entry Name Description Category Pathway Gene
H00449 Oculodentodigital dysplasia Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant ... Congenital malformation GJA1 [HSA:2697] [KO:K07372]
H00450 Worth type autosomal dominant osteosclerosis
Endosteal hyperostosis 		Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease ... Congenital malformation LRP5 [HSA:4041] [KO:K03068]
H00452 Buschke-Ollendorff syndrome
Osteopoikilosis 		Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein ... Congenital malformation LEMD3 [HSA:23592] [KO:K19410]
H00454 Oral-facial-digital syndrome Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 ... Congenital malformation (OFD1) OFD1 [HSA:8481] [KO:K16480]
(OFD4) TCTN3 [HSA:26123] [KO:K19382]
(OFD5) DDX59 [HSA:83479] [KO:K19466]
(OFD6) CPLANE1 [HSA:65250] [KO:K22859]
(OFD14) C2CD3 [HSA:26005] [KO:K16751]
(OFD15) JBTS38 [HSA:9851] [KO:K21765]
(OFD16) TMEM107 [HSA:84314] [KO:K22764]
(OFD17) INTU [HSA:27152] [KO:K22862]
(OFD18) IFT57 [HSA:55081] [KO:K04638]
(OFD19) SCNM1 [HSA:79005] [KO:K24827]
(OFD20) RAB34 [HSA:83871] [KO:K07921]
H00456 Fronto-otopalatodigital syndromes Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked ... Congenital malformation FLNA [HSA:2316] [KO:K04437]
H00457 Primary hypertrophic osteoarthropathy Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene ... Musculoskeletal disease HPGD [HSA:3248] [KO:K00069]
SLCO2A1 [HSA:6578] [KO:K14345]
H00462 Stuve-Wiedemann syndrome Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease. Congenital malformation (STWS1) LIFR [HSA:3977] [KO:K05058]
(STWS2) IL6ST [HSA:3572] [KO:K05060]
H00465 Fragile X syndrome Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating ... Chromosomal abnormality FMR1 [HSA:2332] [KO:K15516]
H00469 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations ... Inherited metabolic disorder, Mitochondrial disease (MTDPS1) TYMP [HSA:1890] [KO:K00758]
(MTDPS2) TK2 [HSA:7084] [KO:K00857]
(MTDPS3) DGUOK [HSA:1716] [KO:K00904]
(MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
(MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
(MTDPS6) MPV17 [HSA:4358] [KO:K13348]
(MTDPS7) TWNK [HSA:56652] [KO:K17680]
(MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
(MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
(MTDPS10) AGK [HSA:55750] [KO:K09881]
(MTDPS11) MGME1 [HSA:92667] [KO:K19465]
(MTDPS12A/12B) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
(MTDPS14) OPA1 [HSA:4976] [KO:K17079]
(MTDPS15) TFAM [HSA:7019] [KO:K11830]
(MTDPS16/16B) POLG2 [HSA:11232] [KO:K02333]
(MTDPS17) MRM2 [HSA:29960] [KO:K02427]
(MTDPS18) SLC25A21 [HSA:89874] [KO:K15110]
(MTDPS19) SLC25A10 [HSA:1468] [KO:K13577]
(MTDPS20) LIG3 [HSA:3980] [KO:K10776]
H00473 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... Inherited metabolic disorder, Mitochondrial disease (MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
(MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
(MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
(MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
(MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
(MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
(MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
(MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
(MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
(MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
(MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
(MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
(MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
(MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
(MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
(MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
(MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
(MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
(MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
(MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
(MC1DN21) NUBPL [HSA:80224] [KO:K03593]
(MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
(MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
(MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
(MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
(MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
(MC1DN27) MTFMT [HSA:123263] [KO:K00604]
(MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
(MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
(MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
(MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
(MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
(MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
(MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
(MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
(MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
(MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
(MC1DN39) NDUFB7 [HSA:4713] [KO:K03963]
ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND3 [HSA:4537] [KO:K03880]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
H00478 Prader-Willi syndrome Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally ... Chromosomal abnormality NDN [HSA:4692] [KO:K19482]
SNRPN [HSA:6638] [KO:K11100]
NPAP1 [HSA:23742] [KO:K26564]
H00479 Metaphyseal dysplasias Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in ... Congenital malformation (MCDS) COL10A1 [HSA:1300] [KO:K19479]
(CHH) RMRP [HSA:6023] [KO:K14576]
(MCDJ) PTH1R [HSA:5745] [KO:K04585]
(PYL) SFRP4 [HSA:6424] [KO:K02185]
(MANDP1) MMP13 [HSA:4322] [KO:K07994]
(MANDP2) MMP9 [HSA:4318] [KO:K01403]
H00480 X-linked intellectual developmental disorder
X-linked mental retardation 		X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... Mental and behavioural disorder (XLID1) IQSEC2 [HSA:23096] [KO:K12495]
(XLID3) HCFC1 [HSA:3054] [KO:K14966]
(XLID9) FTSJ1 [HSA:24140] [KO:K14864]
(XLID12) THOC2 [HSA:57187] [KO:K12879]
(XLID19) RPS6KA3 [HSA:6197] [KO:K04373]
(XLID21) IL1RAPL1 [HSA:11141] [KO:K05170]
(XLID29) ARX [HSA:170302] [KO:K09452]
(XLID30) PAK3 [HSA:5063] [KO:K05733]
(XLID41) GDI1 [HSA:2664] [KO:K17255]
(XLID58) TSPAN7 [HSA:7102] [KO:K06571]
(XLID63) ACSL4 [HSA:2182] [KO:K01897]
(XLID72) RAB39B [HSA:116442] [KO:K07925]
(XLID90) DLG3 [HSA:1741] [KO:K21098]
(XLID93) BRWD3 [HSA:254065] [KO:K11798]
(XLID96) SYP [HSA:6855]
(XLID97) ZNF711 [HSA:7552] [KO:K24376]
(XLID98) NEXMIF [HSA:340533] [KO:K25862]
(XLID99) USP9X [HSA:8239] [KO:K11840]
(XLID100) KIF4A [HSA:24137] [KO:K10395]
(XLID101) MID2 [HSA:11043] [KO:K10647]
(XLID103) KLHL15 [HSA:80311] [KO:K10452]
(XLID104) FRMPD4 [HSA:9758] [KO:K23956]
(XLID105) USP27X [HSA:389856] [KO:K11366]
(XLID106) OGT [HSA:8473] [KO:K09667]
(XLID107) STEEP1 [HSA:63932] [KO:K24996]
(XLID108) SLC9A7 [HSA:84679] [KO:K12041]
(XLID109) AFF2 [HSA:2334] [KO:K15194]
(XLID110) FGF13 [HSA:2258] [KO:K22413]
(XLID111) SLITRK2 [HSA:84631] [KO:K25833]
(XLID112) ZMYM3 [HSA:9203] [KO:K24675]
(XLID113) CSTF2 [HSA:1478] [KO:K14407]
H00488 MCAD deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM deficiency 		Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation ... Inherited metabolic disorder, Mitochondrial disease ACADM [HSA:34] [KO:K00249]
H00489 LCHAD deficiency
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency 		Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by ... Inherited metabolic disorder HADHA [HSA:3030] [KO:K07515]
H00493 Heparan sulfate proteoglycan gene defects ... heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins have been reported ... Congenital malformation (DDSH/SJS1) HSPG2 [HSA:3339] [KO:K06255]
(SGBS1) GPC3 [HSA:2719] [KO:K08109]
(OMOD1) GPC6 [HSA:10082] [KO:K08112]
(EXT1) EXT1 [HSA:2131] [KO:K02366]
(EXT2) EXT2 [HSA:2132] [KO:K02367]
H00497 Cherubism Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, ... Digestive system disease SH3BP2 [HSA:6452] [KO:K07984]
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]
H00504 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the ... Congenital malformation (RSTS1) CREBBP [HSA:1387] [KO:K04498]
(RSTS2) EP300 [HSA:2033] [KO:K04498]
H00509 3M syndrome The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1. Congenital malformation (3M1) CUL7 [HSA:9820] [KO:K10613]
(3M2) OBSL1 [HSA:23363] [KO:K19574]
(3M3) CCDC8 [HSA:83987] [KO:K17561]
H00512 Permanent neonatal diabetes mellitus Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... Endocrine and metabolic disease (PNDM1) GCK [HSA:2645] [KO:K12407]
(PNDM2) KCNJ11 [HSA:3767] [KO:K05004]
(PNDM3) ABCC8 [HSA:6833] [KO:K05032]
(PNDM4) INS [HSA:3630] [KO:K04526]
(PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PACA) PTF1A [HSA:256297] [KO:K09073]
(IPEX) FOXP3 [HSA:50943] [KO:K10163]
(NDH) GLIS3 [HSA:169792] [KO:K09232]
H00513 Transient neonatal diabetes mellitus Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... Endocrine and metabolic disease (TNDM1) ZFP57 [HSA:346171] [KO:K09228]
(TNDM1) PLAGL1 [HSA:5325] [KO:K19485]
(TNDM2) ABCC8 [HSA:6833] [KO:K05032]
(TNDM3) KCNJ11 [HSA:3767] [KO:K05004]
H00515 Atelosteogenesis type II ... characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene. Congenital malformation DTDST [HSA:1836] [KO:K14701]
H00517 Spondylocostal dysostosis Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation ... Congenital malformation (SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LNFG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701]
H00523 Noonan syndrome and related disorders Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders ... Congenital malformation (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H00524 Scapuloperoneal spinal muscular atrophy ... muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders. Nervous system disease TRPV4 [HSA:59341] [KO:K04973]
H00525 Disorders of mitochondrial fatty-acid oxidation Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... Inherited metabolic disorder (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H00526 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Jacobs syndrome 		The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as ... Congenital malformation PRG4 [HSA:10216] [KO:K24286]
H00529 Cranioectodermal dysplasia Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis ... Congenital malformation (CED1) IFT122 [HSA:55764] [KO:K19656]
(CED2) WDR35 [HSA:57539] [KO:K19674]
(CED3) IFT43 [HSA:112752] [KO:K19675]
(CED4) WDR19 [HSA:57728] [KO:K19671]
H00530 Joubert syndrome and related disorders Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... Congenital malformation (JBTS1) INPP5E [HSA:56623] [KO:K20278]
(JBTS2) TMEM216 [HSA:51259] [KO:K19385]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 [HSA:4867] [KO:K19657]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147] [KO:K19348]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545] [KO:K19352]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809] [KO:K19673]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TCTN1 [HSA:79600] [KO:K19382]
(JBTS14) TMEM237 [HSA:65062] [KO:K22765]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524] [KO:K22867]
(JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
(JBTS18) TCTN3 [HSA:26123] [KO:K19382]
(JBTS19) ZNF423 [HSA:23090] [KO:K22870]
(JBTS20) TMEM231 [HSA:79583] [KO:K19362]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
(JBTS23) JBTS23 [HSA:9786] [KO:K22865]
(JBTS24) TCTN2 [HSA:79867] [KO:K19361]
(JBTS25) CEP104 [HSA:9731] [KO:K16458]
(JBTS26) KATNIP [HSA:23247] [KO:K22858]
(JBTS27) B9D1 [HSA:27077] [KO:K16744]
(JBTS28) MKS1 [HSA:54903] [KO:K19332]
(JBTS29) TMEM107 [HSA:84314] [KO:K22764]
(JBTS30) ARMC9 [HSA:80210] [KO:K22864]
(JBTS31) CEP120 [HSA:153241] [KO:K16459]
(JBTS32) SUFU [HSA:51684] [KO:K06229]
(JBTS33) PIBF1 [HSA:10464] [KO:K16538]
(JBTS34) B9D2 [HSA:80776] [KO:K16745]
(JBTS35) ARL3 [HSA:403] [KO:K07944]
(JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
(JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
(JBTS38) JBTS38 [HSA:9851] [KO:K21765]
(JBTS39) TMEM218 [HSA:219854] [KO:K26674]
(JBTS40) IFT74 [HSA:80173] [KO:K19679]
H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the ... Congenital malformation NOTCH3 [HSA:4854] [KO:K20995]
H00537 Nephronophthisis Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... Congenital malformation (NPHP1) NPHP1 [HSA:4867] [KO:K19657]
(NPHP2) INVS [HSA:27130] [KO:K19626]
(NPHP3) NPHP3 [HSA:27031] [KO:K19360]
(NPHP4) NPHP4 [HSA:261734] [KO:K16478]
(NPHP5) IQCB1 [HSA:9657] [KO:K16774]
(NPHP6) CEP290 [HSA:80184] [KO:K16533]
(NPHP7) GLIS2 [HSA:84662] [KO:K09233]
(NPHP9) NEK8 [HSA:284086] [KO:K20877]
(NPHP10) SDCCAG8 [HSA:10806] [KO:K16488]
(NPHP11) TMEM67 [HSA:91147] [KO:K19348]
(NPHP12) TTC21B [HSA:79809] [KO:K19673]
(NPHP13) WDR19 [HSA:57728] [KO:K19671]
(NPHP14) ZNF423 [HSA:23090] [KO:K22870]
(NPHP15) CEP164 [HSA:22897] [KO:K16462]
(NPHP16) ANKS6 [HSA:203286] [KO:K21415]
(NPHP18) CEP83 [HSA:51134] [KO:K16754]
(NPHP19) DCDC2 [HSA:51473] [KO:K23405]
(NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
(NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]
(NPHPL2) SLC41A1 [HSA:254428] [KO:K15122]
H00538 Senior-Loken syndrome Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. Congenital malformation (SLSN1) NPHP1 [HSA:4867] [KO:K19657]
(SLSN4) NPHP4 [HSA:261734] [KO:K16478]
(SLSN5) IQCB1 [HSA:9657] [KO:K16774]
(SLSN6) CEP290 [HSA:80184] [KO:K16533]
(SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
(SLSN8) WDR19 [HSA:57728] [KO:K19671]
(SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680]
H00539 PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant ... Neoplasm PTEN [HSA:5728] [KO:K01110]
H00541 Autosomal dominant tubulointerstitial kidney disease ... tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss ... Urinary system disease (ADTKD1) UMOD [HSA:7369] [KO:K18274]
(ADTKD2) MUC1 [HSA:4582] [KO:K06568]
(ADTKD3) HNF1B [HSA:6928] [KO:K08034]
(ADTKD4) REN [HSA:5972] [KO:K01380]
(ADTKD5) SEC61A1 [HSA:29927] [KO:K10956]
H00543 Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations ... Congenital malformation (RHPD1) NPHP3 [HSA:27031] [KO:K19360]
(RHPD2) NEK8 [HSA:284086] [KO:K20877]
H00545 Polycystic liver disease Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients ... Congenital malformation (PCLD1) PRKCSH [HSA:5589] [KO:K08288]
(PCLD2) SEC63 [HSA:11231] [KO:K09540]
(PCLD3) ALG8 [HSA:79053] [KO:K03849]
(PCLD4) LRP5 [HSA:4041] [KO:K03068]
H00548 Brunner syndrome
MAOA deficiency 		Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin ... Inherited metabolic disorder MAOA [HSA:4128] [KO:K00274]
H00551 Alagille syndrome Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and ... Congenital malformation (ALGS1) JAG1 [HSA:182] [KO:K06052]
(ALGS2) NOTCH2 [HSA:4853] [KO:K20994]
H00555 Char syndrome Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of ... Congenital malformation TFAP2B [HSA:7021] [KO:K09176]
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