Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the kidney (HP:0000077)help
Parent Node:
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Abnormal renal morphology (HP:0012210)help
..Starting node
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Renal cyst (HP:0000107)help
Term ID: 107
Name: Renal cyst
Synonym: Cystic kidney disease; Cystic kidneys; Kidney cyst; Renal cysts
Definition: A fluid filled sac in the kidney.
Comments:
Reference: HP:0000107
Genes and Diseases:
 
       Child Nodes:
........expandMulticystic kidney dysplasia (HP:0000003) help
........expandRenal corticomedullary cysts (HP:0000108) help
........expandPolycystic kidney dysplasia (HP:0000113) help
........expandCystic renal dysplasia (HP:0000800) help
........expandRenal cortical cysts (HP:0000803) help
................... HP:0004734 Renal cortical microcysts
........expandMultiple renal cysts (HP:0005562) help
........expandMultiple small medullary renal cysts (HP:0008659) help
........expandSolitary renal cyst (HP:0012581) help
........expandRenal diverticulum (HP:0100877) help

 Sister Nodes: 
..expandAbnormal localization of kidney (HP:0100542) help
..expandAbnormal nephron morphology (HP:0012575) help
..expandAbnormal renal artery morphology (HP:0008776) help
..expandAbnormal renal calyx morphology (HP:0011130) help
..expandAbnormal renal collecting system morphology (HP:0004742) help
..expandAbnormal renal cortex morphology (HP:0011035) help
..expandAbnormal renal medulla morphology (HP:0100957) help
..expandAbnormal renal pelvis morphology (HP:0010944) help
..expandDecreased renal parenchymal thickness (HP:0025327) help
..expandEnlarged kidney (HP:0000105) help
..expandHyperechogenic kidneys (HP:0004719) help
..expandNephrocalcinosis (HP:0000121) help
..expandNephrogenic rest (HP:0100880) help
..expandNephrolithiasis (HP:0000787) help
..expandNephrosclerosis (HP:0009741) help
..expandPerinephric fluid collection (HP:0031226) help
..expandPerirenal hematoma (HP:0030171) help
..expandRenal amyloidosis (HP:0001917) help
..expandRenal atrophy (HP:0012585) help
..expandRenal duplication (HP:0000075) help
..expandRenal dysplasia (HP:0000110) help
..expandRenal fibrosis (HP:0030760) help
..expandRenal hypoplasia/aplasia (HP:0008678) help
..expandRenal malrotation (HP:0004712) help
..expandRenal steatosis (HP:0000799) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000107HP:0000107Renal cyst0ABCC8 CL E G H683359ORPHA:552MODYHP:0040284 - Very rare245
HP:0000107HP:0000107Renal cyst0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome23
HP:0000107HP:0000107Renal cyst0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0000107HP:0000107Renal cyst0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000107HP:0000107Renal cyst0ALG5 CL E G H2988020266OMIM:620056
HP:0000107HP:0000107Renal cyst0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent
HP:0000107HP:0000107Renal cyst0ALG8 CL E G H7905323161OMIM:617874POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD346
HP:0000107HP:0000107Renal cyst0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent93
HP:0000107HP:0000107Renal cyst0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000107HP:0000107Renal cyst0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000107HP:0000107Renal cyst0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000107HP:0000107Renal cyst0ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 1632
HP:0000107HP:0000107Renal cyst0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III6
HP:0000107HP:0000107Renal cyst0APPL1 CL E G H2606024035ORPHA:552MODYHP:0040284 - Very rare2
HP:0000107HP:0000107Renal cyst0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000107HP:0000107Renal cyst0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0000107HP:0000107Renal cyst0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000107HP:0000107Renal cyst0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000107HP:0000107Renal cyst0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000107HP:0000107Renal cyst0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13HP:0040283 - Occasional17
HP:0000107HP:0000107Renal cyst0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0000107HP:0000107Renal cyst0B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 928
HP:0000107HP:0000107Renal cyst0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0000107HP:0000107Renal cyst0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0000107HP:0000107Renal cyst0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0000107HP:0000107Renal cyst0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0000107HP:0000107Renal cyst0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0000107HP:0000107Renal cyst0BBS10 CL E G H7973826291OMIM:615987Bardet-Biedl syndrome 10.118
HP:0000107HP:0000107Renal cyst0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0000107HP:0000107Renal cyst0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0000107HP:0000107Renal cyst0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0000107HP:0000107Renal cyst0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 4.87
HP:0000107HP:0000107Renal cyst0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0000107HP:0000107Renal cyst0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0000107HP:0000107Renal cyst0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0000107HP:0000107Renal cyst0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent5
HP:0000107HP:0000107Renal cyst0BICC1 CL E G H8011419351OMIM:601331Renal dysplasia, cystic, susceptibility to5
HP:0000107HP:0000107Renal cyst0BLK CL E G H6401057ORPHA:552MODYHP:0040284 - Very rare75
HP:0000107HP:0000107Renal cyst0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0000107HP:0000107Renal cyst0BMPER CL E G H16866724154ORPHA:66637Diaphanospondylodysostosis78
HP:0000107HP:0000107Renal cyst0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000107HP:0000107Renal cyst0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0000107HP:0000107Renal cyst0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0000107HP:0000107Renal cyst0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000107HP:0000107Renal cyst0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0000107HP:0000107Renal cyst0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000107HP:0000107Renal cyst0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0000107HP:0000107Renal cyst0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0000107HP:0000107Renal cyst0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040280 - ObligateHP:0003577 - Congenital onset247
HP:0000107HP:0000107Renal cyst0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0000107HP:0000107Renal cyst0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0000107HP:0000107Renal cyst0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000107HP:0000107Renal cyst0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0000107HP:0000107Renal cyst0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0000107HP:0000107Renal cyst0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0000107HP:0000107Renal cyst0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0000107HP:0000107Renal cyst0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0000107HP:0000107Renal cyst0CEL CL E G H10561848ORPHA:552MODYHP:0040284 - Very rare25
HP:0000107HP:0000107Renal cyst0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000107HP:0000107Renal cyst0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0000107HP:0000107Renal cyst0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0000107HP:0000107Renal cyst0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000107HP:0000107Renal cyst0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0000107HP:0000107Renal cyst0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4.342
HP:0000107HP:0000107Renal cyst0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly.2
HP:0000107HP:0000107Renal cyst0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0000107HP:0000107Renal cyst0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0000107HP:0000107Renal cyst0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0000107HP:0000107Renal cyst0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040281 - Very frequent38
HP:0000107HP:0000107Renal cyst0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0000107HP:0000107Renal cyst0COL4A1 CL E G H12822202ORPHA:73229HANAC syndrome193
HP:0000107HP:0000107Renal cyst0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000107HP:0000107Renal cyst0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0000107HP:0000107Renal cyst0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0000107HP:0000107Renal cyst0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0000107HP:0000107Renal cyst0CRB2 CL E G H28620418688OMIM:219730Ventriculomegaly with cystic kidney disease12
HP:0000107HP:0000107Renal cyst0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0000107HP:0000107Renal cyst0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000107HP:0000107Renal cyst0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0000107HP:0000107Renal cyst0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0000107HP:0000107Renal cyst0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000107HP:0000107Renal cyst0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0000107HP:0000107Renal cyst0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0000107HP:0000107Renal cyst0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000107HP:0000107Renal cyst0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000107HP:0000107Renal cyst0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000107HP:0000107Renal cyst0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000107HP:0000107Renal cyst0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent
HP:0000107HP:0000107Renal cyst0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0000107HP:0000107Renal cyst0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional304
HP:0000107HP:0000107Renal cyst0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0000107HP:0000107Renal cyst0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0000107HP:0000107Renal cyst0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0000107HP:0000107Renal cyst0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000107HP:0000107Renal cyst0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0000107HP:0000107Renal cyst0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000107HP:0000107Renal cyst0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0000107HP:0000107Renal cyst0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0000107HP:0000107Renal cyst0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0000107HP:0000107Renal cyst0EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0000107HP:0000107Renal cyst0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000107HP:0000107Renal cyst0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0000107HP:0000107Renal cyst0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndromeHP:0040283 - Occasional2
HP:0000107HP:0000107Renal cyst0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome.332
HP:0000107HP:0000107Renal cyst0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000107HP:0000107Renal cyst0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type I233
HP:0000107HP:0000107Renal cyst0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000107HP:0000107Renal cyst0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0000107HP:0000107Renal cyst0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0000107HP:0000107Renal cyst0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000107HP:0000107Renal cyst0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent6
HP:0000107HP:0000107Renal cyst0GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 36
HP:0000107HP:0000107Renal cyst0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome83
HP:0000107HP:0000107Renal cyst0GCK CL E G H26454195ORPHA:552MODYHP:0040284 - Very rare237
HP:0000107HP:0000107Renal cyst0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000107HP:0000107Renal cyst0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000107HP:0000107Renal cyst0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0000107HP:0000107Renal cyst0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000107HP:0000107Renal cyst0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000107HP:0000107Renal cyst0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000107HP:0000107Renal cyst0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000107HP:0000107Renal cyst0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000107HP:0000107Renal cyst0GREB1L CL E G H8000031042OMIM:617805Renal hypodysplasia/aplasia 3
HP:0000107HP:0000107Renal cyst0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0000107HP:0000107Renal cyst0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000107HP:0000107Renal cyst0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000107HP:0000107Renal cyst0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000107HP:0000107Renal cyst0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0000107HP:0000107Renal cyst0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000107HP:0000107Renal cyst0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000107HP:0000107Renal cyst0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000107HP:0000107Renal cyst0HNF1A CL E G H692711621ORPHA:552MODYHP:0040284 - Very rare161
HP:0000107HP:0000107Renal cyst0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndrome90
HP:0000107HP:0000107Renal cyst0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease90
HP:0000107HP:0000107Renal cyst0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0000107HP:0000107Renal cyst0HNF4A CL E G H31725024ORPHA:552MODYHP:0040284 - Very rare138
HP:0000107HP:0000107Renal cyst0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0000107HP:0000107Renal cyst0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000107HP:0000107Renal cyst0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000107HP:0000107Renal cyst0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000107HP:0000107Renal cyst0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000107HP:0000107Renal cyst0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent148
HP:0000107HP:0000107Renal cyst0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000107HP:0000107Renal cyst0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0000107HP:0000107Renal cyst0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0000107HP:0000107Renal cyst0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000107HP:0000107Renal cyst0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0000107HP:0000107Renal cyst0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional65
HP:0000107HP:0000107Renal cyst0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0000107HP:0000107Renal cyst0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1HP:0040283 - Occasional111
HP:0000107HP:0000107Renal cyst0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0000107HP:0000107Renal cyst0INS CL E G H36306081ORPHA:552MODYHP:0040284 - Very rare62
HP:0000107HP:0000107Renal cyst0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2106
HP:0000107HP:0000107Renal cyst0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000107HP:0000107Renal cyst0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0000107HP:0000107Renal cyst0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000107HP:0000107Renal cyst0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0000107HP:0000107Renal cyst0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0000107HP:0000107Renal cyst0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000107HP:0000107Renal cyst0KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040284 - Very rare127
HP:0000107HP:0000107Renal cyst0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0000107HP:0000107Renal cyst0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0000107HP:0000107Renal cyst0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000107HP:0000107Renal cyst0KLF11 CL E G H846211811ORPHA:552MODYHP:0040284 - Very rare78
HP:0000107HP:0000107Renal cyst0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000107HP:0000107Renal cyst0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000107HP:0000107Renal cyst0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000107HP:0000107Renal cyst0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndrome
HP:0000107HP:0000107Renal cyst0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000107HP:0000107Renal cyst0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0000107HP:0000107Renal cyst0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver disease125
HP:0000107HP:0000107Renal cyst0LRP5 CL E G H40416697OMIM:617875Polycystic liver disease 4 with or without kidney cysts125
HP:0000107HP:0000107Renal cyst0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0000107HP:0000107Renal cyst0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000107HP:0000107Renal cyst0MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 20.6
HP:0000107HP:0000107Renal cyst0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0000107HP:0000107Renal cyst0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0000107HP:0000107Renal cyst0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000107HP:0000107Renal cyst0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0000107HP:0000107Renal cyst0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 6.69
HP:0000107HP:0000107Renal cyst0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0000107HP:0000107Renal cyst0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome69
HP:0000107HP:0000107Renal cyst0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0000107HP:0000107Renal cyst0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0000107HP:0000107Renal cyst0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000107HP:0000107Renal cyst0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000107HP:0000107Renal cyst0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0000107HP:0000107Renal cyst0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0000107HP:0000107Renal cyst0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0000107HP:0000107Renal cyst0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0000107HP:0000107Renal cyst0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040283 - Occasional5
HP:0000107HP:0000107Renal cyst0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0000107HP:0000107Renal cyst0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome418
HP:0000107HP:0000107Renal cyst0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome326
HP:0000107HP:0000107Renal cyst0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000107HP:0000107Renal cyst0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000107HP:0000107Renal cyst0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0000107HP:0000107Renal cyst0NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000107HP:0000107Renal cyst0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0000107HP:0000107Renal cyst0NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040284 - Very rare32
HP:0000107HP:0000107Renal cyst0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000107HP:0000107Renal cyst0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1HP:0040283 - Occasional494
HP:0000107HP:0000107Renal cyst0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0000107HP:0000107Renal cyst0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000107HP:0000107Renal cyst0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000107HP:0000107Renal cyst0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0000107HP:0000107Renal cyst0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 185
HP:0000107HP:0000107Renal cyst0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000107HP:0000107Renal cyst0NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3157
HP:0000107HP:0000107Renal cyst0NPHP3 CL E G H270317907ORPHA:3032NPHP3-related Meckel-like syndrome157
HP:0000107HP:0000107Renal cyst0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0000107HP:0000107Renal cyst0NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4220
HP:0000107HP:0000107Renal cyst0NRIP1 CL E G H82048001OMIM:618270Congenital anomalies of kidney and urinary tract 3.1
HP:0000107HP:0000107Renal cyst0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000107HP:0000107Renal cyst0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000107HP:0000107Renal cyst0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000107HP:0000107Renal cyst0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0000107HP:0000107Renal cyst0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0000107HP:0000107Renal cyst0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000107HP:0000107Renal cyst0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0000107HP:0000107Renal cyst0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndrome39
HP:0000107HP:0000107Renal cyst0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000107HP:0000107Renal cyst0PAX4 CL E G H50788618ORPHA:552MODYHP:0040284 - Very rare55
HP:0000107HP:0000107Renal cyst0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000107HP:0000107Renal cyst0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0000107HP:0000107Renal cyst0PDX1 CL E G H36516107ORPHA:552MODYHP:0040284 - Very rare30
HP:0000107HP:0000107Renal cyst0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000107HP:0000107Renal cyst0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0000107HP:0000107Renal cyst0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0000107HP:0000107Renal cyst0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0000107HP:0000107Renal cyst0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0000107HP:0000107Renal cyst0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0000107HP:0000107Renal cyst0PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger)65
HP:0000107HP:0000107Renal cyst0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0000107HP:0000107Renal cyst0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0000107HP:0000107Renal cyst0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0000107HP:0000107Renal cyst0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0000107HP:0000107Renal cyst0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0000107HP:0000107Renal cyst0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0000107HP:0000107Renal cyst0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000107HP:0000107Renal cyst0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0000107HP:0000107Renal cyst0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0000107HP:0000107Renal cyst0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0000107HP:0000107Renal cyst0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0000107HP:0000107Renal cyst0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0000107HP:0000107Renal cyst0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0000107HP:0000107Renal cyst0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0000107HP:0000107Renal cyst0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0000107HP:0000107Renal cyst0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0000107HP:0000107Renal cyst0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000107HP:0000107Renal cyst0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0000107HP:0000107Renal cyst0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000107HP:0000107Renal cyst0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent342
HP:0000107HP:0000107Renal cyst0PKD1 CL E G H53109008OMIM:173900Polycystic kidneys342
HP:0000107HP:0000107Renal cyst0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent106
HP:0000107HP:0000107Renal cyst0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0000107HP:0000107Renal cyst0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0000107HP:0000107Renal cyst0PKHD1 CL E G H53149016ORPHA:53035Caroli disease563
HP:0000107HP:0000107Renal cyst0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0000107HP:0000107Renal cyst0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000107HP:0000107Renal cyst0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0000107HP:0000107Renal cyst0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0000107HP:0000107Renal cyst0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0000107HP:0000107Renal cyst0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver disease63
HP:0000107HP:0000107Renal cyst0PRKCSH CL E G H55899411OMIM:174050Polycystic liver disease 1 with or without kidney cysts.63
HP:0000107HP:0000107Renal cyst0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000107HP:0000107Renal cyst0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000107HP:0000107Renal cyst0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000107HP:0000107Renal cyst0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0000107HP:0000107Renal cyst0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0000107HP:0000107Renal cyst0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000107HP:0000107Renal cyst0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0000107HP:0000107Renal cyst0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000107HP:0000107Renal cyst0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000107HP:0000107Renal cyst0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0000107HP:0000107Renal cyst0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0000107HP:0000107Renal cyst0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0000107HP:0000107Renal cyst0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0000107HP:0000107Renal cyst0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0000107HP:0000107Renal cyst0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000107HP:0000107Renal cyst0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0000107HP:0000107Renal cyst0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0000107HP:0000107Renal cyst0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0000107HP:0000107Renal cyst0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0000107HP:0000107Renal cyst0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0000107HP:0000107Renal cyst0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0000107HP:0000107Renal cyst0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000107HP:0000107Renal cyst0SEC61A1 CL E G H2992718276OMIM:617056Tubulointerstitial kidney disease, autosomal dominant, 5.2
HP:0000107HP:0000107Renal cyst0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver disease137
HP:0000107HP:0000107Renal cyst0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0000107HP:0000107Renal cyst0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0000107HP:0000107Renal cyst0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0000107HP:0000107Renal cyst0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000107HP:0000107Renal cyst0SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0000107HP:0000107Renal cyst0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000107HP:0000107Renal cyst0SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0000107HP:0000107Renal cyst0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0000107HP:0000107Renal cyst0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0000107HP:0000107Renal cyst0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0000107HP:0000107Renal cyst0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000107HP:0000107Renal cyst0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000107HP:0000107Renal cyst0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000107HP:0000107Renal cyst0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0000107HP:0000107Renal cyst0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0000107HP:0000107Renal cyst0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0000107HP:0000107Renal cyst0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000107HP:0000107Renal cyst0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000107HP:0000107Renal cyst0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0000107HP:0000107Renal cyst0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000107HP:0000107Renal cyst0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000107HP:0000107Renal cyst0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0000107HP:0000107Renal cyst0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0000107HP:0000107Renal cyst0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0000107HP:0000107Renal cyst0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0000107HP:0000107Renal cyst0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0000107HP:0000107Renal cyst0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0000107HP:0000107Renal cyst0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000107HP:0000107Renal cyst0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0000107HP:0000107Renal cyst0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0000107HP:0000107Renal cyst0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 134
HP:0000107HP:0000107Renal cyst0TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0000107HP:0000107Renal cyst0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000107HP:0000107Renal cyst0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0000107HP:0000107Renal cyst0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0000107HP:0000107Renal cyst0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0000107HP:0000107Renal cyst0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0000107HP:0000107Renal cyst0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0000107HP:0000107Renal cyst0TMEM231 CL E G H7958337234OMIM:615397Meckel syndrome, type 1133
HP:0000107HP:0000107Renal cyst0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000107HP:0000107Renal cyst0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0000107HP:0000107Renal cyst0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0000107HP:0000107Renal cyst0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396ORPHA:140976RHYNS syndrome166
HP:0000107HP:0000107Renal cyst0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000107HP:0000107Renal cyst0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0000107HP:0000107Renal cyst0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0000107HP:0000107Renal cyst0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0000107HP:0000107Renal cyst0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000107HP:0000107Renal cyst0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0000107HP:0000107Renal cyst0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000107HP:0000107Renal cyst0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0000107HP:0000107Renal cyst0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0000107HP:0000107Renal cyst0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000107HP:0000107Renal cyst0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000107HP:0000107Renal cyst0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0000107HP:0000107Renal cyst0TULP3 CL E G H728912425OMIM:619902
HP:0000107HP:0000107Renal cyst0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000107HP:0000107Renal cyst0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0000107HP:0000107Renal cyst0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000107Renal cyst0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000107HP:0000107Renal cyst0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0000107HP:0000107Renal cyst0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0000107HP:0000107Renal cyst0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000107HP:0000107Renal cyst0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0000107HP:0000107Renal cyst0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000107HP:0000107Renal cyst0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional136
HP:0000107HP:0000107Renal cyst0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000107HP:0000107Renal cyst0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0000107HP:0000107Renal cyst0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0000107HP:0000107Renal cyst0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000107HP:0000107Renal cyst0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000107HP:0000107Renal cyst0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0000107HP:0000107Renal cyst0ZNF423 CL E G H2309016762OMIM:614844Nephronophthisis 1449
HP:0000107HP:0100877Renal diverticulum1 CL E G H
HP:0000107HP:0041050Renal tubular cyst1 CL E G H
HP:0000107HP:0032963Complex renal cyst1 CL E G H
HP:0000107HP:0012581Simple renal cyst1 CL E G H
HP:0000107HP:0000003Multicystic kidney dysplasia1ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent23
HP:0000107HP:0005562Multiple renal cysts1ALG5 CL E G H2988020266OMIM:620056
HP:0000107HP:0000113Polycystic kidney dysplasia1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0000107HP:0000113Polycystic kidney dysplasia1ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000107HP:0000003Multicystic kidney dysplasia1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosisHP:0040284 - Very rare34
HP:0000107HP:0000113Polycystic kidney dysplasia1ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 16.32
HP:0000107HP:0008659Multiple small medullary renal cysts1AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type IIIHP:0040283 - Occasional6
HP:0000107HP:0000003Multicystic kidney dysplasia1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000107HP:0000003Multicystic kidney dysplasia1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0000107HP:0000003Multicystic kidney dysplasia1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0000107HP:0000113Polycystic kidney dysplasia1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000107HP:0005562Multiple renal cysts1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000107HP:0000003Multicystic kidney dysplasia1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000107HP:0000003Multicystic kidney dysplasia1B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0000107HP:0000003Multicystic kidney dysplasia1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0000107HP:0000003Multicystic kidney dysplasia1B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 9.28
HP:0000107HP:0000003Multicystic kidney dysplasia1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0000107HP:0005562Multiple renal cysts1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000003Multicystic kidney dysplasia1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0000107HP:0000003Multicystic kidney dysplasia1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0000107HP:0005562Multiple renal cysts1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000800Cystic renal dysplasia1BICC1 CL E G H8011419351OMIM:601331Renal dysplasia, cystic, susceptibility to.5
HP:0000107HP:0005562Multiple renal cysts1BMPER CL E G H16866724154ORPHA:66637DiaphanospondylodysostosisHP:0040281 - Very frequent78
HP:0000107HP:0000800Cystic renal dysplasia1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0000107HP:0000003Multicystic kidney dysplasia1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000107HP:0000003Multicystic kidney dysplasia1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0000107HP:0000003Multicystic kidney dysplasia1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0000107HP:0000003Multicystic kidney dysplasia1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0000107HP:0000003Multicystic kidney dysplasia1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000003Multicystic kidney dysplasia1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000107HP:0000003Multicystic kidney dysplasia1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0000107HP:0005562Multiple renal cysts1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0000107HP:0005562Multiple renal cysts1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0000107HP:0000803Renal cortical cysts1CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000107HP:0000003Multicystic kidney dysplasia1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0000107HP:0000113Polycystic kidney dysplasia1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0000107HP:0000803Renal cortical cysts1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0000107HP:0000003Multicystic kidney dysplasia1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000107HP:0000003Multicystic kidney dysplasia1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0000107HP:0000803Renal cortical cysts1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0000107HP:0000003Multicystic kidney dysplasia1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0000107HP:0000003Multicystic kidney dysplasia1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0000107HP:0000003Multicystic kidney dysplasia1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0000107HP:0000003Multicystic kidney dysplasia1CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040282 - Frequent4
HP:0000107HP:0005562Multiple renal cysts1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1COL4A1 CL E G H12822202ORPHA:73229HANAC syndromeHP:0040281 - Very frequent193
HP:0000107HP:0000113Polycystic kidney dysplasia1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000107HP:0005562Multiple renal cysts1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000107HP:0000113Polycystic kidney dysplasia1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0000107HP:0000800Cystic renal dysplasia1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0000107HP:0000113Polycystic kidney dysplasia1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.HP:0003577 - Congenital onset101
HP:0000107HP:0000108Renal corticomedullary cysts1CRB2 CL E G H28620418688OMIM:219730Ventriculomegaly with cystic kidney disease.12
HP:0000107HP:0000803Renal cortical cysts1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000107HP:0000003Multicystic kidney dysplasia1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0000107HP:0005562Multiple renal cysts1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000107HP:0000108Renal corticomedullary cysts1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000107HP:0000003Multicystic kidney dysplasia1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000107HP:0005562Multiple renal cysts1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000107HP:0005562Multiple renal cysts1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000113Polycystic kidney dysplasia1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3.304
HP:0000107HP:0000113Polycystic kidney dysplasia1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040281 - Very frequent4
HP:0000107HP:0000113Polycystic kidney dysplasia1DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 5.4
HP:0000107HP:0005562Multiple renal cysts1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000107HP:0000113Polycystic kidney dysplasia1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000107HP:0000113Polycystic kidney dysplasia1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0000107HP:0000803Renal cortical cysts1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0000107HP:0000113Polycystic kidney dysplasia1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0000107HP:0000803Renal cortical cysts1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0000107HP:0000113Polycystic kidney dysplasia1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0000107HP:0000803Renal cortical cysts1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0000107HP:0000113Polycystic kidney dysplasia1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0000107HP:0000003Multicystic kidney dysplasia1EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040283 - Occasional135
HP:0000107HP:0000113Polycystic kidney dysplasia1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000107HP:0000003Multicystic kidney dysplasia1FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000107HP:0005562Multiple renal cysts1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000003Multicystic kidney dysplasia1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000107HP:0005562Multiple renal cysts1FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040283 - Occasional233
HP:0000107HP:0000003Multicystic kidney dysplasia1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040281 - Very frequent353
HP:0000107HP:0000003Multicystic kidney dysplasia1FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040281 - Very frequent263
HP:0000107HP:0000113Polycystic kidney dysplasia1GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 3.6
HP:0000107HP:0000113Polycystic kidney dysplasia1GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndromeHP:0040282 - Frequent83
HP:0000107HP:0000113Polycystic kidney dysplasia1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000107HP:0000003Multicystic kidney dysplasia1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0000107HP:0000113Polycystic kidney dysplasia1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000107HP:0005562Multiple renal cysts1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000107HP:0000003Multicystic kidney dysplasia1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000107HP:0000003Multicystic kidney dysplasia1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000107HP:0000003Multicystic kidney dysplasia1GREB1L CL E G H8000031042OMIM:617805Renal hypodysplasia/aplasia 3.
HP:0000107HP:0000003Multicystic kidney dysplasia1GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040281 - Very frequent80
HP:0000107HP:0005562Multiple renal cysts1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000107HP:0005562Multiple renal cysts1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000107HP:0005562Multiple renal cysts1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000107HP:0000803Renal cortical cysts1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0000107HP:0000003Multicystic kidney dysplasia1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0000107HP:0000003Multicystic kidney dysplasia1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000107HP:0000113Polycystic kidney dysplasia1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000107HP:0005562Multiple renal cysts1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000107HP:0000003Multicystic kidney dysplasia1HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040281 - Very frequent90
HP:0000107HP:0000003Multicystic kidney dysplasia1HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040281 - Very frequent90
HP:0000107HP:0000003Multicystic kidney dysplasia1HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000107HP:0000113Polycystic kidney dysplasia1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0000107HP:0000003Multicystic kidney dysplasia1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0000107HP:0000003Multicystic kidney dysplasia1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000107HP:0000113Polycystic kidney dysplasia1IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000107HP:0000003Multicystic kidney dysplasia1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0000107HP:0000803Renal cortical cysts1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0000107HP:0000003Multicystic kidney dysplasia1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000107HP:0000803Renal cortical cysts1INVS CL E G H2713017870OMIM:602088Nephronophthisis 2106
HP:0000107HP:0008659Multiple small medullary renal cysts1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000107HP:0000800Cystic renal dysplasia1JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataractsHP:0040283 - Occasional4
HP:0000107HP:0005562Multiple renal cysts1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000107HP:0000113Polycystic kidney dysplasia1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000107HP:0000003Multicystic kidney dysplasia1KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0000107HP:0000003Multicystic kidney dysplasia1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000107HP:0000803Renal cortical cysts1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0000107HP:0000803Renal cortical cysts1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0000107HP:0000803Renal cortical cysts1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000107HP:0000003Multicystic kidney dysplasia1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000107HP:0000003Multicystic kidney dysplasia1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000107HP:0000003Multicystic kidney dysplasia1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000107HP:0000003Multicystic kidney dysplasia1LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040281 - Very frequent
HP:0000107HP:0000003Multicystic kidney dysplasia1LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000107HP:0005562Multiple renal cysts1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000003Multicystic kidney dysplasia1LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent
HP:0000107HP:0005562Multiple renal cysts1LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040282 - Frequent125
HP:0000107HP:0000003Multicystic kidney dysplasia1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0000107HP:0000003Multicystic kidney dysplasia1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0000107HP:0000003Multicystic kidney dysplasia1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040283 - Occasional3
HP:0000107HP:0005562Multiple renal cysts1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000107HP:0000003Multicystic kidney dysplasia1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0000107HP:0000003Multicystic kidney dysplasia1MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0000107HP:0000113Polycystic kidney dysplasia1MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0000107HP:0000003Multicystic kidney dysplasia1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0000107HP:0000003Multicystic kidney dysplasia1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040281 - Very frequent127
HP:0000107HP:0000113Polycystic kidney dysplasia1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000107HP:0005562Multiple renal cysts1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000107HP:0000803Renal cortical cysts1MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0000107HP:0000803Renal cortical cysts1MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0000107HP:0000108Renal corticomedullary cysts1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0000107HP:0000003Multicystic kidney dysplasia1MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent418
HP:0000107HP:0000003Multicystic kidney dysplasia1MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent326
HP:0000107HP:0000113Polycystic kidney dysplasia1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000107HP:0005562Multiple renal cysts1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000107HP:0000113Polycystic kidney dysplasia1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0000107HP:0000803Renal cortical cysts1NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000107HP:0000800Cystic renal dysplasia1NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2.43
HP:0000107HP:0000003Multicystic kidney dysplasia1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000107HP:0005562Multiple renal cysts1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000107HP:0000003Multicystic kidney dysplasia1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0000107HP:0000108Renal corticomedullary cysts1NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 1.85
HP:0000107HP:0000003Multicystic kidney dysplasia1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000107HP:0000108Renal corticomedullary cysts1NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3.157
HP:0000107HP:0000003Multicystic kidney dysplasia1NPHP3 CL E G H270317907ORPHA:3032NPHP3-related Meckel-like syndromeHP:0040281 - Very frequent157
HP:0000107HP:0000113Polycystic kidney dysplasia1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0000107HP:0000108Renal corticomedullary cysts1NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4.220
HP:0000107HP:0000003Multicystic kidney dysplasia1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000107HP:0005562Multiple renal cysts1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000107HP:0000113Polycystic kidney dysplasia1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.HP:0003581 - Adult onset201
HP:0000107HP:0000003Multicystic kidney dysplasia1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000107HP:0000003Multicystic kidney dysplasia1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000107HP:0000003Multicystic kidney dysplasia1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0000107HP:0000003Multicystic kidney dysplasia1PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040282 - Frequent39
HP:0000107HP:0000803Renal cortical cysts1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000107HP:0000113Polycystic kidney dysplasia1PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger).65
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000107HP:0005562Multiple renal cysts1PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000107HP:0000803Renal cortical cysts1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000107HP:0000113Polycystic kidney dysplasia1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000107HP:0000003Multicystic kidney dysplasia1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000107HP:0000003Multicystic kidney dysplasia1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0000107HP:0000003Multicystic kidney dysplasia1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000107HP:0000803Renal cortical cysts1PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000107HP:0000113Polycystic kidney dysplasia1PKD1 CL E G H53109008OMIM:173900Polycystic kidneys.342
HP:0000107HP:0005562Multiple renal cysts1PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0000107HP:0000113Polycystic kidney dysplasia1PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2.106
HP:0000107HP:0000113Polycystic kidney dysplasia1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040281 - Very frequent563
HP:0000107HP:0000113Polycystic kidney dysplasia1PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0000107HP:0000113Polycystic kidney dysplasia1PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0000107HP:0008659Multiple small medullary renal cysts1PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0000107HP:0005562Multiple renal cysts1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0000107HP:0000003Multicystic kidney dysplasia1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0000107HP:0005562Multiple renal cysts1PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040282 - Frequent63
HP:0000107HP:0000003Multicystic kidney dysplasia1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000107HP:0005562Multiple renal cysts1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000113Polycystic kidney dysplasia1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0000107HP:0000003Multicystic kidney dysplasia1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000107HP:0000003Multicystic kidney dysplasia1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040281 - Very frequent109
HP:0000107HP:0000003Multicystic kidney dysplasia1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0000107HP:0000003Multicystic kidney dysplasia1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040281 - Very frequent167
HP:0000107HP:0000113Polycystic kidney dysplasia1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000003Multicystic kidney dysplasia1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000107HP:0005562Multiple renal cysts1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000107HP:0000003Multicystic kidney dysplasia1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000107HP:0000003Multicystic kidney dysplasia1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0000107HP:0000003Multicystic kidney dysplasia1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0000107HP:0005562Multiple renal cysts1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0000113Polycystic kidney dysplasia1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040282 - Frequent137
HP:0000107HP:0000003Multicystic kidney dysplasia1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000107HP:0000003Multicystic kidney dysplasia1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040284 - Very rare
HP:0000107HP:0000113Polycystic kidney dysplasia1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000107HP:0000003Multicystic kidney dysplasia1SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040283 - Occasional50
HP:0000107HP:0000113Polycystic kidney dysplasia1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000107HP:0000003Multicystic kidney dysplasia1SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040283 - Occasional10
HP:0000107HP:0000113Polycystic kidney dysplasia1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000107HP:0000113Polycystic kidney dysplasia1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000107HP:0000803Renal cortical cysts1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000107HP:0000003Multicystic kidney dysplasia1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000107HP:0000003Multicystic kidney dysplasia1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000107HP:0000003Multicystic kidney dysplasia1SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0000107HP:0000003Multicystic kidney dysplasia1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000107HP:0000113Polycystic kidney dysplasia1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040284 - Very rare138
HP:0000107HP:0005562Multiple renal cysts1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0000107HP:0005562Multiple renal cysts1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000800Cystic renal dysplasia1TBC1D24 CL E G H5746529203OMIM:220500Doors syndromeHP:0040283 - Occasional271
HP:0000107HP:0005562Multiple renal cysts1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000107HP:0000113Polycystic kidney dysplasia1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000107HP:0000003Multicystic kidney dysplasia1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0000107HP:0000003Multicystic kidney dysplasia1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040281 - Very frequent76
HP:0000107HP:0000113Polycystic kidney dysplasia1TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0000107HP:0000003Multicystic kidney dysplasia1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040281 - Very frequent31
HP:0000107HP:0000003Multicystic kidney dysplasia1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040281 - Very frequent4
HP:0000107HP:0000113Polycystic kidney dysplasia1TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0000107HP:0000113Polycystic kidney dysplasia1TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040281 - Very frequent33
HP:0000107HP:0000113Polycystic kidney dysplasia1TMEM231 CL E G H7958337234OMIM:615397Meckel syndrome, type 11.33
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040281 - Very frequent82
HP:0000107HP:0005562Multiple renal cysts1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0008659Multiple small medullary renal cysts1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040281 - Very frequent166
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0000107HP:0000108Renal corticomedullary cysts1TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000107HP:0000003Multicystic kidney dysplasia1TMEM67 CL E G H9114728396ORPHA:140976RHYNS syndromeHP:0040282 - Frequent166
HP:0000107HP:0000108Renal corticomedullary cysts1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000107HP:0000003Multicystic kidney dysplasia1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0000107HP:0000113Polycystic kidney dysplasia1TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000107HP:0000003Multicystic kidney dysplasia1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0000107HP:0005562Multiple renal cysts1TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0000107HP:0000113Polycystic kidney dysplasia1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0000107HP:0005562Multiple renal cysts1TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0000107HP:0000113Polycystic kidney dysplasia1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0000107HP:0000003Multicystic kidney dysplasia1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0000107HP:0000113Polycystic kidney dysplasia1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000107HP:0000003Multicystic kidney dysplasia1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040281 - Very frequent2
HP:0000107HP:0000113Polycystic kidney dysplasia1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000107HP:0005562Multiple renal cysts1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0000107HP:0005562Multiple renal cysts1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0000107HP:0005562Multiple renal cysts1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000107HP:0000003Multicystic kidney dysplasia1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0000107HP:0000113Polycystic kidney dysplasia1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0000107HP:0000003Multicystic kidney dysplasia1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000107HP:0000108Renal corticomedullary cysts1XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1.109
HP:0000107HP:0000003Multicystic kidney dysplasia1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000107HP:0000003Multicystic kidney dysplasia1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000107HP:0000113Polycystic kidney dysplasia1ZNF423 CL E G H2309016762OMIM:614844Nephronophthisis 14.49
HP:0000107HP:0004734Renal cortical microcysts2INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.106
HP:0000107HP:0004734Renal cortical microcysts2NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000107HP:0004734Renal cortical microcysts2PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000107HP:0004734Renal cortical microcysts2PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000107HP:0004734Renal cortical microcysts2SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.


Genes (276) :ABCC8 ACTG2 AKR1D1 AKT1 ALG5 ALG8 ALG9 AMER1 ANKS6 AP2S1 APPL1 ARL3 ARL6 ARL6IP6 ARVCF B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICC1 BLK BMPER BRD4 BUB1 BUB1B BUB3 BUD23 CASZ1 CC2D2A CCND1 CD96 CDC73 CDKN1C CEL CEP120 CEP19 CEP290 CEP55 CEP57 CFAP418 CHRM3 CLIP2 CLPB COL4A1 COMT COQ2 CPT2 CRB2 CSPP1 CWC27 CYTB DACT1 DCDC2 DHCR7 DHX16 DNAJB11 DNAJC30 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L EIF4H ELN ESCO2 ETFA ETFB ETFDH EYA1 FIBP FKBP6 FLCN FLI1 FLNB FRAS1 FREM2 GABRD GANAB GATA3 GCK GLI3 GLIS3 GNA11 GP1BB GPC3 GPC4 GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H19-ICR HDAC4 HDAC8 HIRA HNF1A HNF1B HNF4A HOXD13 HSD17B4 HSPG2 IFNG IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 INPP5E INS INVS JAG1 JAM3 JMJD1C KAT6B KCNAB2 KCNJ11 KCNQ1 KCNQ1OT1 KIAA0586 KLF11 LAMA3 LAMB3 LAMC2 LHX1 LIG1 LIMK1 LMOD1 LRP5 LUZP1 LZTFL1 MAPKBP1 MBTPS2 MCTP2 METTL27 MKKS MKS1 MLXIPL MMP23B MPDU1 MPI MSH3 MUC1 MYH11 MYLK NAA10 NCF1 NEK1 NEK8 NEUROD1 NIPBL NOTCH2 NPHP1 NPHP3 NPHP4 NRIP1 NXN OCRL OFD1 PAX1 PAX2 PAX4 PBX1 PDPN PDSS2 PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGN PIGQ PIGT PKD1 PKD2 PKHD1 PMM2 PORCN PRDM16 PRKCSH PRKCZ PTEN PUF60 RAD21 RAD51C RERE RFC2 RMND1 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RREB1 RSPO2 SALL1 SCAPER SDCCAG8 SEC24C SEC61A1 SEC63 SETBP1 SF3B2 SH2B1 SHANK3 SIX1 SIX5 SKI SKIC2 SKIC3 SMC1A SMC3 SNRPB SPEN SPOP SRCAP STK11 STX1A TBC1D24 TBL2 TBX1 TCTN1 TCTN2 TCTN3 TFAP2A TKT TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TRIM32 TRIP11 TRIP13 TRRAP TSC1 TSC2 TTC8 TULP3 TXNDC15 UBE4B UFD1 VHL VPS37D WDPCP WDR35 WNT3 XPNPEP3 ZEB2 ZNF148 ZNF423

Diseases (221) :ORPHA:552 ORPHA:2241 ORPHA:79303 ORPHA:744 OMIM:620056 ORPHA:730 OMIM:617874 OMIM:608776 OMIM:263210 OMIM:300373 OMIM:615382 OMIM:600740 OMIM:618161 ORPHA:110 ORPHA:1556 ORPHA:567 ORPHA:709 OMIM:615287 ORPHA:564 OMIM:614209 OMIM:614175 ORPHA:904 OMIM:615987 OMIM:615982 OMIM:601331 OMIM:608022 ORPHA:66637 ORPHA:199 ORPHA:1052 OMIM:257300 ORPHA:1606 ORPHA:1454 OMIM:612284 ORPHA:892 OMIM:193300 ORPHA:1308 OMIM:211750 OMIM:145001 ORPHA:99880 ORPHA:143 OMIM:130650 OMIM:616300 OMIM:610188 OMIM:611134 OMIM:236500 ORPHA:2970 ORPHA:445038 OMIM:611773 ORPHA:73229 ORPHA:255249 ORPHA:228308 OMIM:608836 OMIM:219730 OMIM:615636 ORPHA:397715 ORPHA:166035 OMIM:250410 ORPHA:137675 ORPHA:857 ORPHA:84081 ORPHA:818 OMIM:270400 OMIM:618733 OMIM:613091 ORPHA:93271 ORPHA:464311 ORPHA:731 OMIM:617610 ORPHA:3103 OMIM:268300 OMIM:231680 ORPHA:107 OMIM:113650 ORPHA:500095 OMIM:617107 OMIM:135150 ORPHA:2308 ORPHA:1190 OMIM:272460 ORPHA:2052 OMIM:600666 ORPHA:2237 OMIM:146510 OMIM:610199 ORPHA:373 OMIM:312870 OMIM:617805 ORPHA:1001 ORPHA:261265 ORPHA:93111 OMIM:137920 ORPHA:887 OMIM:261515 ORPHA:805 OMIM:613254 OMIM:266920 OMIM:617866 OMIM:213300 OMIM:602088 OMIM:118450 OMIM:613730 OMIM:606170 ORPHA:85201 ORPHA:79404 OMIM:619774 ORPHA:2924 OMIM:617875 OMIM:615994 OMIM:617271 OMIM:308205 ORPHA:1596 OMIM:605231 ORPHA:2473 OMIM:236700 OMIM:249000 OMIM:609180 ORPHA:79323 OMIM:602579 OMIM:617100 ORPHA:480536 OMIM:174000 OMIM:300855 OMIM:263520 OMIM:613824 OMIM:615415 OMIM:122470 OMIM:610205 ORPHA:955 OMIM:102500 OMIM:256100 OMIM:267010 OMIM:604387 ORPHA:3032 OMIM:208540 OMIM:606966 OMIM:618270 ORPHA:1507 ORPHA:534 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:615560 OMIM:120330 ORPHA:1475 ORPHA:97362 OMIM:214100 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614859 OMIM:614883 OMIM:614866 OMIM:214110 OMIM:614862 ORPHA:2461 ORPHA:2059 OMIM:618548 ORPHA:369837 OMIM:615398 OMIM:173900 OMIM:613095 ORPHA:53035 OMIM:263200 OMIM:212065 ORPHA:79318 ORPHA:2092 OMIM:174050 OMIM:615583 OMIM:613390 OMIM:616975 OMIM:614922 OMIM:210710 OMIM:611560 OMIM:611561 ORPHA:3301 OMIM:107480 OMIM:615993 OMIM:617056 ORPHA:798 OMIM:164210 ORPHA:261197 OMIM:606232 ORPHA:84064 OMIM:222470 ORPHA:1393 OMIM:117650 OMIM:618829 ORPHA:2044 ORPHA:2869 OMIM:220500 OMIM:613885 OMIM:614815 ORPHA:1297 OMIM:113620 ORPHA:488618 OMIM:617562 OMIM:614465 OMIM:608091 OMIM:603194 OMIM:619562 OMIM:614970 OMIM:615397 OMIM:614424 OMIM:617478 OMIM:216360 OMIM:607361 OMIM:613550 ORPHA:140976 OMIM:184260 OMIM:618454 ORPHA:538 OMIM:191100 OMIM:619902 OMIM:619879 OMIM:613610 OMIM:614091 OMIM:613159 ORPHA:261552 ORPHA:261537 OMIM:617260 OMIM:614844
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.