Human Phenotype Ontology 
Grandparent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
Parent Node:
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Abnormality of the amniotic fluid (HP:0001560)help
..Starting node
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Polyhydramnios (HP:0001561)help
Term ID: 1561
Name: Polyhydramnios
Synonym: High levels of amniotic fluid; Hydramnios
Definition: The presence of excess amniotic fluid in the uterus during pregnancy.
Comments:
Reference: HP:0001561
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFetal polyuria (HP:0001563) help
..expandMeconium stained amniotic fluid (HP:0012420) help
..expandOligohydramnios (HP:0001562) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001561HP:0001561Polyhydramnios0ACTA1 CL E G H58171433ORPHA1392129102610
HP:0001561HP:0001561Polyhydramnios0ACTA1 CL E G H58171430ORPHA1392129102610
HP:0001561HP:0001561Polyhydramnios0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001561HP:0001561Polyhydramnios0ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA175145102545
HP:0001561HP:0001561Polyhydramnios0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM175145102545
HP:0001561HP:0001561Polyhydramnios0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM19613841612243
HP:0001561HP:0001561Polyhydramnios0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1787438171760
HP:0001561HP:0001561Polyhydramnios0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0001561HP:0001561Polyhydramnios0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001561HP:0001561Polyhydramnios0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM126620207610308
HP:0001561HP:0001561Polyhydramnios0BIN1 CL E G H274169189ORPHA15521052601248
HP:0001561HP:0001561Polyhydramnios0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001561HP:0001561Polyhydramnios0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0001561HP:0001561Polyhydramnios0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA17891148602452
HP:0001561HP:0001561Polyhydramnios0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA112501149602860
HP:0001561HP:0001561Polyhydramnios0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA12991151603719
HP:0001561HP:0001561Polyhydramnios0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA131130794607951
HP:0001561HP:0001561Polyhydramnios0CHD7 CL E G H55636138ORPHA1231820626608892
HP:0001561HP:0001561Polyhydramnios0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM13981955100690
HP:0001561HP:0001561Polyhydramnios0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM14081965100720
HP:0001561HP:0001561Polyhydramnios0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM12201967100730
HP:0001561HP:0001561Polyhydramnios0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0001561HP:0001561Polyhydramnios0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0001561HP:0001561Polyhydramnios0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001561HP:0001561Polyhydramnios0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001561HP:0001561Polyhydramnios0COL2A1 CL E G H128085166ORPHA118202200120140
HP:0001561HP:0001561Polyhydramnios0COL2A1 CL E G H128093296ORPHA118202200120140
HP:0001561HP:0001561Polyhydramnios0COL2A1 CL E G H1280200610Achondrogenesis, type II200610C0220685OMIM118202200120140
HP:0001561HP:0001561Polyhydramnios0CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM142018688609720
HP:0001561HP:0001561Polyhydramnios0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001561HP:0001561Polyhydramnios0DHCR7 CL E G H1717818ORPHA16482860602858
HP:0001561HP:0001561Polyhydramnios0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001561HP:0001561Polyhydramnios0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0001561HP:0001561Polyhydramnios0DNM2 CL E G H1785169189ORPHA18852974602378
HP:0001561HP:0001561Polyhydramnios0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0001561HP:0001561Polyhydramnios0DOK7 CL E G H285489994ORPHA184026594610285
HP:0001561HP:0001561Polyhydramnios0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM184026594610285
HP:0001561HP:0001561Polyhydramnios0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM141424595617083
HP:0001561HP:0001561Polyhydramnios0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12913133300205
HP:0001561HP:0001561Polyhydramnios0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001561HP:0001561Polyhydramnios0ERBB3 CL E G H2065607598Lethal congenital contracture syndrome 2607598C1843478OMIM1973431190151
HP:0001561HP:0001561Polyhydramnios0ERF CL E G H2077617180Chitayat syndrome617180C4310679OMIM11313444611888
HP:0001561HP:0001561Polyhydramnios0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM143527230609353
HP:0001561HP:0001561Polyhydramnios0FANCB CL E G H21873412ORPHA15163583300515
HP:0001561HP:0001561Polyhydramnios0FGFR3 CL E G H226193274ORPHA17463690134934
HP:0001561HP:0001561Polyhydramnios0FGFR3 CL E G H22611860ORPHA17463690134934
HP:0001561HP:0001561Polyhydramnios0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM17463690134934
HP:0001561HP:0001561Polyhydramnios0FGFR3 CL E G H2261187601Thanatophoric dysplasia, type 2187601C1300257OMIM17463690134934
HP:0001561HP:0001561Polyhydramnios0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM174916873609390
HP:0001561HP:0001561Polyhydramnios0FLNB CL E G H23171263ORPHA111553755603381
HP:0001561HP:0001561Polyhydramnios0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM111553755603381
HP:0001561HP:0001561Polyhydramnios0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM114120105610865
HP:0001561HP:0001561Polyhydramnios0FOXE1 CL E G H2304241850Bamforth syndrome241850C1855794OMIM1713806602617
HP:0001561HP:0001561Polyhydramnios0FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1713806602617
HP:0001561HP:0001561Polyhydramnios0FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11523809601089
HP:0001561HP:0001561Polyhydramnios0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0001561HP:0001561Polyhydramnios0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM16004180607839
HP:0001561HP:0001561Polyhydramnios0GLE1 CL E G H27331486Congenital herpes simplexORPHA13824315603371
HP:0001561HP:0001561Polyhydramnios0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0001561HP:0001561Polyhydramnios0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0001561HP:0001561Polyhydramnios0HBA1 CL E G H3039163596ORPHA13794823141800
HP:0001561HP:0001561Polyhydramnios0HBA2 CL E G H3040163596ORPHA13334824141850
HP:0001561HP:0001561Polyhydramnios0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0001561HP:0001561Polyhydramnios0HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA11175136142989
HP:0001561HP:0001561Polyhydramnios0HRAS CL E G H32653071ORPHA15475173190020
HP:0001561HP:0001561Polyhydramnios0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0001561HP:0001561Polyhydramnios0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0001561HP:0001561Polyhydramnios0HYLS1 CL E G H2198442189ORPHA122926558610693
HP:0001561HP:0001561Polyhydramnios0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0001561HP:0001561Polyhydramnios0INPPL1 CL E G H36363144Krieble Bixler syndromeORPHA12956080600829
HP:0001561HP:0001561Polyhydramnios0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM12956080600829
HP:0001561HP:0001561Polyhydramnios0ITGA6 CL E G H365579403ORPHA12156142147556
HP:0001561HP:0001561Polyhydramnios0ITGA6 CL E G H3655226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM12156142147556
HP:0001561HP:0001561Polyhydramnios0ITGB4 CL E G H3691158684ORPHA14396158147557
HP:0001561HP:0001561Polyhydramnios0ITGB4 CL E G H369179403ORPHA14396158147557
HP:0001561HP:0001561Polyhydramnios0ITGB4 CL E G H3691226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM14396158147557
HP:0001561HP:0001561Polyhydramnios0KAT6B CL E G H235223047ORPHA160517582605880
HP:0001561HP:0001561Polyhydramnios0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM160517582605880
HP:0001561HP:0001561Polyhydramnios0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM12136255600359
HP:0001561HP:0001561Polyhydramnios0KCNJ6 CL E G H3763435628ORPHA11226267600877
HP:0001561HP:0001561Polyhydramnios0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM182819960610178
HP:0001561HP:0001561Polyhydramnios0KIF7 CL E G H3746542189ORPHA197730497611254
HP:0001561HP:0001561Polyhydramnios0KLHL40 CL E G H131377171430ORPHA137830372615340
HP:0001561HP:0001561Polyhydramnios0KLHL41 CL E G H10324171430ORPHA122016905607701
HP:0001561HP:0001561Polyhydramnios0KLHL41 CL E G H10324171433ORPHA122016905607701
HP:0001561HP:0001561Polyhydramnios0KRAS CL E G H38453339ORPHA14406407190070
HP:0001561HP:0001561Polyhydramnios0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12856518600024
HP:0001561HP:0001561Polyhydramnios0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM116226636150330
HP:0001561HP:0001561Polyhydramnios0LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA1336647602715
HP:0001561HP:0001561Polyhydramnios0LMOD3 CL E G H56203171430ORPHA13266649616112
HP:0001561HP:0001561Polyhydramnios0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0001561HP:0001561Polyhydramnios0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM15019479605490
HP:0001561HP:0001561Polyhydramnios0MAGED2 CL E G H10916300971Bartter syndrome, type 5, antenatal, transient300971C4310820OMIM118616353300470
HP:0001561HP:0001561Polyhydramnios0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0001561HP:0001561Polyhydramnios0MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0001561HP:0001561Polyhydramnios0MUSK CL E G H4593994ORPHA14967525601296
HP:0001561HP:0001561Polyhydramnios0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14967525601296
HP:0001561HP:0001561Polyhydramnios0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM11467559164840
HP:0001561HP:0001561Polyhydramnios0MYF6 CL E G H4618169189ORPHA1787566159991
HP:0001561HP:0001561Polyhydramnios0MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA127217569160745
HP:0001561HP:0001561Polyhydramnios0MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA114457590600922
HP:0001561HP:0001561Polyhydramnios0MYOD1 CL E G H4654994ORPHA1357611159970
HP:0001561HP:0001561Polyhydramnios0NEB CL E G H4703171433ORPHA164447720161650
HP:0001561HP:0001561Polyhydramnios0NEB CL E G H4703171430ORPHA164447720161650
HP:0001561HP:0001561Polyhydramnios0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001561HP:0001561Polyhydramnios0NPHP3 CL E G H270313032ORPHA18867907608002
HP:0001561HP:0001561Polyhydramnios0OTX2 CL E G H5015990ORPHA11888522600037
HP:0001561HP:0001561Polyhydramnios0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA14398574601545
HP:0001561HP:0001561Polyhydramnios0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA15198923606879
HP:0001561HP:0001561Polyhydramnios0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM15198923606879
HP:0001561HP:0001561Polyhydramnios0PIEZO1 CL E G H9780616843Lymphedema, hereditary, III616843C4225184OMIM193128993611184
HP:0001561HP:0001561Polyhydramnios0PIGN CL E G H235562059ORPHA18578967606097
HP:0001561HP:0001561Polyhydramnios0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM18578967606097
HP:0001561HP:0001561Polyhydramnios0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13628213610662
HP:0001561HP:0001561Polyhydramnios0PLEC CL E G H5339158684ORPHA141529069601282
HP:0001561HP:0001561Polyhydramnios0PLEC CL E G H5339226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM141529069601282
HP:0001561HP:0001561Polyhydramnios0PLEC CL E G H5339612138Epidermolysis bullosa simplex with pyloric atresia612138C2677349OMIM141529069601282
HP:0001561HP:0001561Polyhydramnios0PRRX1 CL E G H5396990ORPHA1379142167420
HP:0001561HP:0001561Polyhydramnios0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA144319129610936
HP:0001561HP:0001561Polyhydramnios0PTH1R CL E G H574550945ORPHA12009608168468
HP:0001561HP:0001561Polyhydramnios0PTH1R CL E G H5745215045Chondrodysplasia Blomstrand type215045C1859148OMIM12009608168468
HP:0001561HP:0001561Polyhydramnios0RAPSN CL E G H5913994ORPHA14339863601592
HP:0001561HP:0001561Polyhydramnios0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM14339863601592
HP:0001561HP:0001561Polyhydramnios0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM121010023609591
HP:0001561HP:0001561Polyhydramnios0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM112510301604175
HP:0001561HP:0001561Polyhydramnios0RSPO2 CL E G H3404193301Lowry syndromeORPHA15528583610575
HP:0001561HP:0001561Polyhydramnios0RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0001561HP:0001561Polyhydramnios0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0001561HP:0001561Polyhydramnios0SEMA3E CL E G H9723138ORPHA145110727608166
HP:0001561HP:0001561Polyhydramnios0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM136015454602775
HP:0001561HP:0001561Polyhydramnios0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM121819353607776
HP:0001561HP:0001561Polyhydramnios0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM135810910600839
HP:0001561HP:0001561Polyhydramnios0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM110820661611037
HP:0001561HP:0001561Polyhydramnios0SLC26A2 CL E G H183693298ORPHA154910994606718
HP:0001561HP:0001561Polyhydramnios0SLC26A2 CL E G H1836600972Achondrogenesis, type IB600972C0265274OMIM154910994606718
HP:0001561HP:0001561Polyhydramnios0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001561HP:0001561Polyhydramnios0SLC35D1 CL E G H231693144Krieble Bixler syndromeORPHA116220800610804
HP:0001561HP:0001561Polyhydramnios0SLC35D1 CL E G H23169269250Schneckenbecken dysplasia269250C0432194OMIM116220800610804
HP:0001561HP:0001561Polyhydramnios0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13525763613176
HP:0001561HP:0001561Polyhydramnios0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM17411153182282
HP:0001561HP:0001561Polyhydramnios0SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM17118122610928
HP:0001561HP:0001561Polyhydramnios0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM128011204608160
HP:0001561HP:0001561Polyhydramnios0SPINT2 CL E G H10653270420Congenital secretory diarrhea, sodium type270420C0267663OMIM19911247605124
HP:0001561HP:0001561Polyhydramnios0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM122326887612758
HP:0001561HP:0001561Polyhydramnios0TBC1D24 CL E G H5746579500ORPHA179529203613577
HP:0001561HP:0001561Polyhydramnios0TMCO1 CL E G H544991394ORPHA16518188614123
HP:0001561HP:0001561Polyhydramnios0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM16518188614123
HP:0001561HP:0001561Polyhydramnios0TPM3 CL E G H7170171433ORPHA130012012191030
HP:0001561HP:0001561Polyhydramnios0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM14730764605958
HP:0001561HP:0001561Polyhydramnios0TRIP11 CL E G H932193299ORPHA160812305604505
HP:0001561HP:0001561Polyhydramnios0TRIP11 CL E G H9321200600Achondrogenesis, type IA200600C0265273OMIM160812305604505
HP:0001561HP:0001561Polyhydramnios0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA121512307604507
HP:0001561HP:0001561Polyhydramnios0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0001561HP:0001561Polyhydramnios0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM123639614589
HP:0001561HP:0001561Polyhydramnios0TTC7A CL E G H57217436252ORPHA175319750609332
HP:0001561HP:0001561Polyhydramnios0TTC7A CL E G H572172300Fetal diethylstilbestrol syndromeORPHA175319750609332
HP:0001561HP:0001561Polyhydramnios0TTC7A CL E G H57217243150Multiple gastrointestinal atresias243150C0220744OMIM175319750609332
HP:0001561HP:0001561Polyhydramnios0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM152329250613602
HP:0001561HP:0001561Polyhydramnios0WDR60 CL E G H55112615503Short-rib thoracic dysplasia 8 with or without polydactyly615503C3809691OMIM121862615462
HP:0001561HP:0001561Polyhydramnios0WNT3 CL E G H74733301Lowry syndromeORPHA16912782165330
HP:0001561HP:0001561Polyhydramnios0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA117712851605066
HP:0001561HP:0001561Polyhydramnios0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM117612877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001561HP:0001561Polyhydramnios0ACTA1 CL E G H58171439ORPHA0392129102610
HP:0001561HP:0001561Polyhydramnios0ACTA1 CL E G H582020ORPHA0392129102610
HP:0001561HP:0001561Polyhydramnios0ACTA1 CL E G H58171436ORPHA0392129102610
HP:0001561HP:0001561Polyhydramnios0AGRN CL E G H37579098914ORPHA01782329103320
HP:0001561HP:0001561Polyhydramnios0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM023615672606941
HP:0001561HP:0001561Polyhydramnios0AQP2 CL E G H359223ORPHA0285634107777
HP:0001561HP:0001561Polyhydramnios0ARVCF CL E G H421567ORPHA0541728602269
HP:0001561HP:0001561Polyhydramnios0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM010224268614215
HP:0001561HP:0001561Polyhydramnios0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA032738100790
HP:0001561HP:0001561Polyhydramnios0ASXL1 CL E G H17102397297ORPHA050318318612990
HP:0001561HP:0001561Polyhydramnios0AVPR2 CL E G H554223ORPHA0383897300538
HP:0001561HP:0001561Polyhydramnios0B3GLCT CL E G H145173709ORPHA026620207610308
HP:0001561HP:0001561Polyhydramnios0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM010561541165360
HP:0001561HP:0001561Polyhydramnios0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA07216892606037
HP:0001561HP:0001561Polyhydramnios0CFL2 CL E G H1073171436ORPHA01471875601443
HP:0001561HP:0001561Polyhydramnios0CHAT CL E G H110398914ORPHA07711912118490
HP:0001561HP:0001561Polyhydramnios0COL13A1 CL E G H130598914ORPHA03972190120350
HP:0001561HP:0001561Polyhydramnios0COMT CL E G H1312567ORPHA05862228116790
HP:0001561HP:0001561Polyhydramnios0ESCO2 CL E G H1575703103ORPHA043527230609353
HP:0001561HP:0001561Polyhydramnios0FIG4 CL E G H98963472MeningococcemiaORPHA074916873609390
HP:0001561HP:0001561Polyhydramnios0FLNB CL E G H231756305ORPHA011553755603381
HP:0001561HP:0001561Polyhydramnios0GP1BB CL E G H2812567ORPHA04494440138720
HP:0001561HP:0001561Polyhydramnios0HACD1 CL E G H92002020ORPHA01099639610467
HP:0001561HP:0001561Polyhydramnios0HIRA CL E G H7290567ORPHA04354916600237
HP:0001561HP:0001561Polyhydramnios0HSPG2 CL E G H3339800ORPHA018305273142461
HP:0001561HP:0001561Polyhydramnios0HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM022926558610693
HP:0001561HP:0001561Polyhydramnios0ITGA7 CL E G H36792020ORPHA07186143600536
HP:0001561HP:0001561Polyhydramnios0JMJD1C CL E G H221037567ORPHA097112313604503
HP:0001561HP:0001561Polyhydramnios0KBTBD13 CL E G H390594171439ORPHA043137227613727
HP:0001561HP:0001561Polyhydramnios0KIDINS220 CL E G H57498521390ORPHA031129508615759
HP:0001561HP:0001561Polyhydramnios0KLHL41 CL E G H10324171436ORPHA022016905607701
HP:0001561HP:0001561Polyhydramnios0KLHL41 CL E G H10324171439ORPHA022016905607701
HP:0001561HP:0001561Polyhydramnios0KLHL7 CL E G H5597597297ORPHA025815646611119
HP:0001561HP:0001561Polyhydramnios0LMNA CL E G H40001662ORPHA016226636150330
HP:0001561HP:0001561Polyhydramnios0LMOD3 CL E G H56203171436ORPHA03266649616112
HP:0001561HP:0001561Polyhydramnios0MAFB CL E G H99352774Hydrocephalus growth retardation skeletal anomaliesORPHA01196408608968
HP:0001561HP:0001561Polyhydramnios0MAP3K20 CL E G H517762020ORPHA024317797609479
HP:0001561HP:0001561Polyhydramnios0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA06417573160720
HP:0001561HP:0001561Polyhydramnios0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM06417573160720
HP:0001561HP:0001561Polyhydramnios0MYL2 CL E G H46332020ORPHA04457583160781
HP:0001561HP:0001561Polyhydramnios0MYO9A CL E G H464998914ORPHA01727608604875
HP:0001561HP:0001561Polyhydramnios0MYPN CL E G H84665171439ORPHA0126323246608517
HP:0001561HP:0001561Polyhydramnios0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA065319082611549
HP:0001561HP:0001561Polyhydramnios0NEB CL E G H4703171439ORPHA064447720161650
HP:0001561HP:0001561Polyhydramnios0NEB CL E G H4703171436ORPHA064447720161650
HP:0001561HP:0001561Polyhydramnios0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA08409143603851
HP:0001561HP:0001561Polyhydramnios0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM04218957311770
HP:0001561HP:0001561Polyhydramnios0RET CL E G H597999803Haddad syndromeC1859587ORPHA026929967164761
HP:0001561HP:0001561Polyhydramnios0RREB1 CL E G H6239567ORPHA017510449602209
HP:0001561HP:0001561Polyhydramnios0RYR1 CL E G H626198905ORPHA0506210483180901
HP:0001561HP:0001561Polyhydramnios0SEC24C CL E G H9632567ORPHA02510705607185
HP:0001561HP:0001561Polyhydramnios0SELENON CL E G H571902020ORPHA053715999606210
HP:0001561HP:0001561Polyhydramnios0SLC18A3 CL E G H657298914ORPHA021510936600336
HP:0001561HP:0001561Polyhydramnios0SLC25A1 CL E G H657698914ORPHA050510979190315
HP:0001561HP:0001561Polyhydramnios0SLC26A2 CL E G H183656304ORPHA054910994606718
HP:0001561HP:0001561Polyhydramnios0SLC5A7 CL E G H6048298914ORPHA037514025608761
HP:0001561HP:0001561Polyhydramnios0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM037514025608761
HP:0001561HP:0001561Polyhydramnios0SLC9A3 CL E G H6550616868Diarrhea 8, secretory sodium, congenital616868CN515063OMIM052011073182307
HP:0001561HP:0001561Polyhydramnios0SNAP25 CL E G H661698914ORPHA019111132600322
HP:0001561HP:0001561Polyhydramnios0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM027030172608626
HP:0001561HP:0001561Polyhydramnios0SYT2 CL E G H12783398914ORPHA016011510600104
HP:0001561HP:0001561Polyhydramnios0TBX1 CL E G H6899567ORPHA097211592602054
HP:0001561HP:0001561Polyhydramnios0TBX18 CL E G H90962190ErythroblastopeniaORPHA07011595604613
HP:0001561HP:0001561Polyhydramnios0TPM2 CL E G H7169171436ORPHA028012011190990
HP:0001561HP:0001561Polyhydramnios0TPM2 CL E G H7169171439ORPHA028012011190990
HP:0001561HP:0001561Polyhydramnios0TPM2 CL E G H71692020ORPHA028012011190990
HP:0001561HP:0001561Polyhydramnios0TPM3 CL E G H7170171439ORPHA030012012191030
HP:0001561HP:0001561Polyhydramnios0TPM3 CL E G H71702020ORPHA030012012191030
HP:0001561HP:0001561Polyhydramnios0UFD1 CL E G H7353567ORPHA040012520601754
HP:0001561HP:0001561Polyhydramnios0VAC14 CL E G H556973472MeningococcemiaORPHA022025507604632
HP:0001561HP:0001561Polyhydramnios0VAMP1 CL E G H684398914ORPHA011812642185880
HP:0001561HP:0001561Polyhydramnios0WDR34 CL E G H89891615633Short-rib thoracic dysplasia 11 with or without polydactyly615633C3810200OMIM028296613363
HP:0001561HP:0001561Polyhydramnios0ZMPSTE24 CL E G H102691662ORPHA017612877606480


Genes (175) :ACTA1 ACTG2 ADGRG6 AGRN ALG9 ALPL AMER1 AQP2 ARVCF ASCC1 ASCL1 ASXL1 AVPR2 B3GLCT BIN1 BRAF BSND BUB1 BUB1B BUB3 CBL CD96 CEP57 CFL2 CHAT CHD7 CHRNA1 CHRND CHRNG CLCNKA CLCNKB CNTN1 CNTNAP1 COL13A1 COL2A1 COMT CRB2 CREBBP DHCR7 DIS3L2 DMPK DNM2 DOK7 DYNC2LI1 EBP EP300 ERBB3 ERF ESCO2 FANCB FGFR3 FIG4 FLNB FLVCR2 FOXE1 FOXF1 GBA GBE1 GLE1 GP1BB GPC3 GPC4 HACD1 HBA1 HBA2 HIC1 HIRA HOXD13 HRAS HSD17B4 HSPG2 HYLS1 IBA57 INPPL1 ITGA6 ITGA7 ITGB4 JMJD1C KAT6B KBTBD13 KCNJ1 KCNJ6 KIAA0586 KIDINS220 KIF7 KLHL40 KLHL41 KLHL7 KRAS LBR LMNA LMOD1 LMOD3 LONP1 MAFB MAGED2 MAP3K20 MTM1 MTMR14 MUSK MYCN MYF6 MYH11 MYH3 MYL2 MYLK MYO9A MYOD1 MYPN NALCN NEB NPHP3 OTX2 PAFAH1B1 PHGDH PHOX2B PIEZO1 PIGA PIGN PIGY PLEC PRRX1 PSAT1 PTH1R RAPSN RET RIT1 RPL11 RREB1 RSPO2 RYR1 SEC24C SELENON SEMA3E SHOC2 SIN3A SLC12A1 SLC18A3 SLC25A1 SLC25A26 SLC26A2 SLC26A3 SLC35D1 SLC5A7 SLC9A3 SMG9 SNAP25 SNRPB SOX17 SOX9 SPINT2 STRADA SYT2 TAPT1 TBC1D24 TBX1 TBX18 TMCO1 TPM2 TPM3 TRAIP TRIP11 TRIP13 TSEN54 TTC37 TTC7A UFD1 VAC14 VAMP1 WDR34 WDR35 WDR60 WNT3 YWHAE ZMPSTE24

Diseases (151) :171433 171430 171439 2020 171436 161800 2241 155310 616503 98914 263210 241500 300373 223 567 616867 99803 97297 605039 709 261540 169189 115150 602522 1052 613563 1308 138 253290 613090 612540 616286 93296 85166 200610 219730 180849 818 267000 160900 615368 994 208150 617088 302960 607598 617180 3103 268300 3412 93274 1860 187600 187601 3472 216340 1263 56305 108720 225790 241850 1226 265380 608013 232500 1486 373 163596 531 887 3071 218040 261515 800 2189 236680 615330 3144 258480 79403 226730 158684 3047 606170 241200 435628 616546 521390 3339 215140 1662 275210 616165 600373 2774 300971 310400 164280 2053 193700 256030 3032 990 2671 256520 616843 300868 2059 614080 616809 612138 50945 215045 615355 612562 3301 98905 255320 607721 613406 601678 616794 93298 56304 600972 214700 269250 617143 616868 616920 117650 613674 114290 270420 611087 616897 79500 2190 1394 213980 616777 93299 200600 225753 222470 436252 2300 243150 615633 613610 615503
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.