Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal morphology (HP:0012210)help
Parent Node:
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Renal cyst (HP:0000107)help
..Starting node
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Multicystic kidney dysplasia (HP:0000003)help
Term ID: 3
Name: Multicystic kidney dysplasia
Synonym: Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia
Definition: Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Comments:
Reference: HP:0000003
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCystic renal dysplasia (HP:0000800) help
..expandMultiple renal cysts (HP:0005562) help
..expandMultiple small medullary renal cysts (HP:0008659) help
..expandPolycystic kidney dysplasia (HP:0000113) help
..expandRenal cortical cysts (HP:0000803) help
..expandRenal corticomedullary cysts (HP:0000108) help
..expandRenal diverticulum (HP:0100877) help
..expandSimple renal cyst (HP:0012581) 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:0000003HP:0000003Multicystic kidney dysplasia0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent23
HP:0000003HP:0000003Multicystic kidney dysplasia0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosisHP:0040284 - Very rare34
HP:0000003HP:0000003Multicystic kidney dysplasia0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000003HP:0000003Multicystic kidney dysplasia0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0000003HP:0000003Multicystic kidney dysplasia0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional1
HP:0000003HP:0000003Multicystic kidney dysplasia0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000003HP:0000003Multicystic kidney dysplasia0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0000003HP:0000003Multicystic kidney dysplasia0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0000003HP:0000003Multicystic kidney dysplasia0B9D1 CL E G H2707724123OMIM:614209Meckel syndrome, type 9.28
HP:0000003HP:0000003Multicystic kidney dysplasia0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0000003HP:0000003Multicystic kidney dysplasia0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0000003HP:0000003Multicystic kidney dysplasia0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0000003HP:0000003Multicystic kidney dysplasia0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0000003HP:0000003Multicystic kidney dysplasia0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0000003HP:0000003Multicystic kidney dysplasia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0000003HP:0000003Multicystic kidney dysplasia0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0000003HP:0000003Multicystic kidney dysplasia0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000003HP:0000003Multicystic kidney dysplasia0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0000003HP:0000003Multicystic kidney dysplasia0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0000003HP:0000003Multicystic kidney dysplasia0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000003HP:0000003Multicystic kidney dysplasia0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0000003HP:0000003Multicystic kidney dysplasia0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0000003HP:0000003Multicystic kidney dysplasia0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0000003HP:0000003Multicystic kidney dysplasia0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040282 - Frequent4
HP:0000003HP:0000003Multicystic kidney dysplasia0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0000003HP:0000003Multicystic kidney dysplasia0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000003HP:0000003Multicystic kidney dysplasia0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040283 - Occasional135
HP:0000003HP:0000003Multicystic kidney dysplasia0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000003HP:0000003Multicystic kidney dysplasia0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000003HP:0000003Multicystic kidney dysplasia0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040281 - Very frequent353
HP:0000003HP:0000003Multicystic kidney dysplasia0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040281 - Very frequent263
HP:0000003HP:0000003Multicystic kidney dysplasia0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040283 - Occasional16
HP:0000003HP:0000003Multicystic kidney dysplasia0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000003HP:0000003Multicystic kidney dysplasia0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0GREB1L CL E G H8000031042OMIM:617805Renal hypodysplasia/aplasia 3.
HP:0000003HP:0000003Multicystic kidney dysplasia0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040281 - Very frequent80
HP:0000003HP:0000003Multicystic kidney dysplasia0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0000003HP:0000003Multicystic kidney dysplasia0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000003HP:0000003Multicystic kidney dysplasia0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040281 - Very frequent90
HP:0000003HP:0000003Multicystic kidney dysplasia0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040281 - Very frequent90
HP:0000003HP:0000003Multicystic kidney dysplasia0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000003HP:0000003Multicystic kidney dysplasia0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0000003HP:0000003Multicystic kidney dysplasia0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000003HP:0000003Multicystic kidney dysplasia0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0000003HP:0000003Multicystic kidney dysplasia0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000003HP:0000003Multicystic kidney dysplasia0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000003HP:0000003Multicystic kidney dysplasia0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0000003HP:0000003Multicystic kidney dysplasia0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000003HP:0000003Multicystic kidney dysplasia0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000003HP:0000003Multicystic kidney dysplasia0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000003HP:0000003Multicystic kidney dysplasia0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040281 - Very frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000003HP:0000003Multicystic kidney dysplasia0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0000003HP:0000003Multicystic kidney dysplasia0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0000003HP:0000003Multicystic kidney dysplasia0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040283 - Occasional3
HP:0000003HP:0000003Multicystic kidney dysplasia0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0000003HP:0000003Multicystic kidney dysplasia0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0000003HP:0000003Multicystic kidney dysplasia0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0000003HP:0000003Multicystic kidney dysplasia0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040281 - Very frequent127
HP:0000003HP:0000003Multicystic kidney dysplasia0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent418
HP:0000003HP:0000003Multicystic kidney dysplasia0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent326
HP:0000003HP:0000003Multicystic kidney dysplasia0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000003HP:0000003Multicystic kidney dysplasia0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0000003HP:0000003Multicystic kidney dysplasia0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000003HP:0000003Multicystic kidney dysplasia0NPHP3 CL E G H270317907ORPHA:3032NPHP3-related Meckel-like syndromeHP:0040281 - Very frequent157
HP:0000003HP:0000003Multicystic kidney dysplasia0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000003HP:0000003Multicystic kidney dysplasia0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000003HP:0000003Multicystic kidney dysplasia0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000003HP:0000003Multicystic kidney dysplasia0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0000003HP:0000003Multicystic kidney dysplasia0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040282 - Frequent39
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000003HP:0000003Multicystic kidney dysplasia0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000003HP:0000003Multicystic kidney dysplasia0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0000003HP:0000003Multicystic kidney dysplasia0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000003HP:0000003Multicystic kidney dysplasia0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0000003HP:0000003Multicystic kidney dysplasia0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000003HP:0000003Multicystic kidney dysplasia0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000003HP:0000003Multicystic kidney dysplasia0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040281 - Very frequent109
HP:0000003HP:0000003Multicystic kidney dysplasia0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0000003HP:0000003Multicystic kidney dysplasia0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040281 - Very frequent167
HP:0000003HP:0000003Multicystic kidney dysplasia0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000003HP:0000003Multicystic kidney dysplasia0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0000003HP:0000003Multicystic kidney dysplasia0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0000003HP:0000003Multicystic kidney dysplasia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000003HP:0000003Multicystic kidney dysplasia0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040284 - Very rare
HP:0000003HP:0000003Multicystic kidney dysplasia0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040283 - Occasional50
HP:0000003HP:0000003Multicystic kidney dysplasia0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040283 - Occasional10
HP:0000003HP:0000003Multicystic kidney dysplasia0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000003HP:0000003Multicystic kidney dysplasia0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000003HP:0000003Multicystic kidney dysplasia0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0000003HP:0000003Multicystic kidney dysplasia0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000003HP:0000003Multicystic kidney dysplasia0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0000003HP:0000003Multicystic kidney dysplasia0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040281 - Very frequent76
HP:0000003HP:0000003Multicystic kidney dysplasia0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040281 - Very frequent31
HP:0000003HP:0000003Multicystic kidney dysplasia0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040281 - Very frequent4
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040281 - Very frequent33
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040281 - Very frequent82
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040281 - Very frequent166
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0000003HP:0000003Multicystic kidney dysplasia0TMEM67 CL E G H9114728396ORPHA:140976RHYNS syndromeHP:0040282 - Frequent166
HP:0000003HP:0000003Multicystic kidney dysplasia0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0000003HP:0000003Multicystic kidney dysplasia0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0000003HP:0000003Multicystic kidney dysplasia0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0000003HP:0000003Multicystic kidney dysplasia0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040281 - Very frequent2
HP:0000003HP:0000003Multicystic kidney dysplasia0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0000003HP:0000003Multicystic kidney dysplasia0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000003HP:0000003Multicystic kidney dysplasia0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000003HP:0000003Multicystic kidney dysplasia0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362


Genes (117) :ACTG2 AMER1 ARL3 ARL6 ARL6IP6 B3GLCT B4GAT1 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BRD4 BUB1 BUB1B BUB3 CC2D2A CD96 CEP19 CEP290 CEP57 CFAP418 CHRM3 CSPP1 DHCR7 EYA1 FIBP FLI1 FRAS1 FREM2 GNA11 GPC3 GPC4 GREB1L GRIP1 HDAC4 HDAC8 HNF1B HOXD13 IFT172 IFT27 IFT74 INPP5E KAT6B LAMA3 LAMB3 LAMC2 LHX1 LIG1 LMOD1 LZTFL1 MBTPS2 MCTP2 MKKS MKS1 MYH11 MYLK NIPBL NPHP1 NPHP3 NXN OFD1 PAX2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGN PORCN RAD21 ROR2 RPGRIP1 RPGRIP1L RSPO2 SALL1 SCAPER SDCCAG8 SF3B2 SH2B1 SIX1 SIX5 SMC1A SMC3 SNRPB SPOP TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TRIP13 TTC8 TXNDC15 WDPCP WNT3 ZEB2

Diseases (55) :ORPHA:2241 OMIM:300373 OMIM:618161 ORPHA:110 ORPHA:1556 ORPHA:709 OMIM:615287 ORPHA:564 OMIM:614209 ORPHA:199 ORPHA:1052 OMIM:257300 ORPHA:1454 ORPHA:1308 ORPHA:2970 ORPHA:818 ORPHA:107 ORPHA:500095 ORPHA:2308 ORPHA:2052 ORPHA:373 OMIM:617805 ORPHA:1001 ORPHA:261265 ORPHA:93111 ORPHA:887 OMIM:606170 ORPHA:85201 ORPHA:79404 OMIM:619774 OMIM:308205 ORPHA:1596 ORPHA:2473 OMIM:267010 ORPHA:3032 ORPHA:1507 ORPHA:2750 OMIM:300209 OMIM:120330 ORPHA:1475 ORPHA:912 ORPHA:2461 ORPHA:2059 ORPHA:2092 ORPHA:3301 OMIM:107480 OMIM:164210 ORPHA:261197 ORPHA:1393 OMIM:618829 ORPHA:1297 OMIM:607361 ORPHA:140976 ORPHA:261552 ORPHA:261537
 

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