Human Phenotype Ontology 
Grandparent Node:
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Abnormal stomach morphology (HP:0002577)help
Parent Node:
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Abnormality of the pylorus (HP:0004400)help
..Starting node
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Pyloric stenosis (HP:0002021)help
Term ID: 2021
Name: Pyloric stenosis
Synonym:
Definition: An abnormal narrowing of the pylorus.
Comments:
Reference: HP:0002021
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital pyloric atresia (HP:0004399) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002021HP:0002021Pyloric stenosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0002021HP:0002021Pyloric stenosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0002021HP:0002021Pyloric stenosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002021HP:0002021Pyloric stenosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002021HP:0002021Pyloric stenosis0CYBA CL E G H1535379ORPHA13422577608508
HP:0002021HP:0002021Pyloric stenosis0CYBA CL E G H1535379ORPHA13052577608508
HP:0002021HP:0002021Pyloric stenosis0CYBB CL E G H1536379ORPHA15682578300481
HP:0002021HP:0002021Pyloric stenosis0CYBB CL E G H1536379ORPHA15282578300481
HP:0002021HP:0002021Pyloric stenosis0CYBC1 CL E G H79415379ORPHA157286720
HP:0002021HP:0002021Pyloric stenosis0CYBC1 CL E G H79415379ORPHA156286720
HP:0002021HP:0002021Pyloric stenosis0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0002021HP:0002021Pyloric stenosis0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0002021HP:0002021Pyloric stenosis0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11462867126064
HP:0002021HP:0002021Pyloric stenosis0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM11512867126064
HP:0002021HP:0002021Pyloric stenosis0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM14663689176943
HP:0002021HP:0002021Pyloric stenosis0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15013689176943
HP:0002021HP:0002021Pyloric stenosis0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0002021HP:0002021Pyloric stenosis0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0002021HP:0002021Pyloric stenosis0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0002021HP:0002021Pyloric stenosis0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0002021HP:0002021Pyloric stenosis0LAMA3 CL E G H3909226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM18156483600805
HP:0002021HP:0002021Pyloric stenosis0LAMA3 CL E G H3909226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM18556483600805
HP:0002021HP:0002021Pyloric stenosis0LAMB3 CL E G H3914226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM16646490150310
HP:0002021HP:0002021Pyloric stenosis0LAMB3 CL E G H3914226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM16226490150310
HP:0002021HP:0002021Pyloric stenosis0LAMC2 CL E G H3918226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM15486493150292
HP:0002021HP:0002021Pyloric stenosis0LAMC2 CL E G H3918226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM15796493150292
HP:0002021HP:0002021Pyloric stenosis0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM14056717604710
HP:0002021HP:0002021Pyloric stenosis0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM14746717604710
HP:0002021HP:0002021Pyloric stenosis0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1103411957300188
HP:0002021HP:0002021Pyloric stenosis0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM194111957300188
HP:0002021HP:0002021Pyloric stenosis0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16107448300415
HP:0002021HP:0002021Pyloric stenosis0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16487448300415
HP:0002021HP:0002021Pyloric stenosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0002021HP:0002021Pyloric stenosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0002021HP:0002021Pyloric stenosis0NCF1 CL E G H653361379ORPHA1997660608512
HP:0002021HP:0002021Pyloric stenosis0NCF2 CL E G H4688379ORPHA13307661608515
HP:0002021HP:0002021Pyloric stenosis0NCF2 CL E G H4688379ORPHA12777661608515
HP:0002021HP:0002021Pyloric stenosis0NCF4 CL E G H4689379ORPHA12037662601488
HP:0002021HP:0002021Pyloric stenosis0NCF4 CL E G H4689379ORPHA12477662601488
HP:0002021HP:0002021Pyloric stenosis0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM13007737162230
HP:0002021HP:0002021Pyloric stenosis0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM11507737162230
HP:0002021HP:0002021Pyloric stenosis0NEK9 CL E G H91754614262Arthrogryposis, perthes disease, and upward gaze palsy614262C3280309OMIM17918591609798
HP:0002021HP:0002021Pyloric stenosis0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0002021HP:0002021Pyloric stenosis0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0002021HP:0002021Pyloric stenosis0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM18857908602716
HP:0002021HP:0002021Pyloric stenosis0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM18077908602716
HP:0002021HP:0002021Pyloric stenosis0OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA17768512300461
HP:0002021HP:0002021Pyloric stenosis0OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA17418512300461
HP:0002021HP:0002021Pyloric stenosis0PEX1 CL E G H5189912ORPHA19518850602136
HP:0002021HP:0002021Pyloric stenosis0PEX1 CL E G H5189912ORPHA17938850602136
HP:0002021HP:0002021Pyloric stenosis0PEX10 CL E G H5192912ORPHA15788851602859
HP:0002021HP:0002021Pyloric stenosis0PEX10 CL E G H5192912ORPHA14808851602859
HP:0002021HP:0002021Pyloric stenosis0PEX11B CL E G H8799912ORPHA13328853603867
HP:0002021HP:0002021Pyloric stenosis0PEX11B CL E G H8799912ORPHA12848853603867
HP:0002021HP:0002021Pyloric stenosis0PEX12 CL E G H5193912ORPHA13208854601758
HP:0002021HP:0002021Pyloric stenosis0PEX12 CL E G H5193912ORPHA12458854601758
HP:0002021HP:0002021Pyloric stenosis0PEX13 CL E G H5194912ORPHA13428855601789
HP:0002021HP:0002021Pyloric stenosis0PEX13 CL E G H5194912ORPHA12348855601789
HP:0002021HP:0002021Pyloric stenosis0PEX14 CL E G H5195912ORPHA13118856601791
HP:0002021HP:0002021Pyloric stenosis0PEX14 CL E G H5195912ORPHA12348856601791
HP:0002021HP:0002021Pyloric stenosis0PEX16 CL E G H9409912ORPHA12828857603360
HP:0002021HP:0002021Pyloric stenosis0PEX16 CL E G H9409912ORPHA12038857603360
HP:0002021HP:0002021Pyloric stenosis0PEX19 CL E G H5824912ORPHA12499713600279
HP:0002021HP:0002021Pyloric stenosis0PEX19 CL E G H5824912ORPHA11819713600279
HP:0002021HP:0002021Pyloric stenosis0PEX2 CL E G H5828912ORPHA13199717170993
HP:0002021HP:0002021Pyloric stenosis0PEX2 CL E G H5828912ORPHA12549717170993
HP:0002021HP:0002021Pyloric stenosis0PEX26 CL E G H55670912ORPHA139222965608666
HP:0002021HP:0002021Pyloric stenosis0PEX26 CL E G H55670912ORPHA131522965608666
HP:0002021HP:0002021Pyloric stenosis0PEX3 CL E G H8504912ORPHA12198858603164
HP:0002021HP:0002021Pyloric stenosis0PEX3 CL E G H8504912ORPHA11588858603164
HP:0002021HP:0002021Pyloric stenosis0PEX5 CL E G H5830912ORPHA15639719600414
HP:0002021HP:0002021Pyloric stenosis0PEX5 CL E G H5830912ORPHA14069719600414
HP:0002021HP:0002021Pyloric stenosis0PEX6 CL E G H5190912ORPHA18558859601498
HP:0002021HP:0002021Pyloric stenosis0PEX6 CL E G H5190912ORPHA16458859601498
HP:0002021HP:0002021Pyloric stenosis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM167226270613629
HP:0002021HP:0002021Pyloric stenosis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM170926270613629
HP:0002021HP:0002021Pyloric stenosis0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM12039312601646
HP:0002021HP:0002021Pyloric stenosis0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM11359312601646
HP:0002021HP:0002021Pyloric stenosis0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM11161546600943
HP:0002021HP:0002021Pyloric stenosis0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM11391546600943
HP:0002021HP:0002021Pyloric stenosis0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM122111602601621
HP:0002021HP:0002021Pyloric stenosis0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM120111602601621
HP:0002021HP:0002021Pyloric stenosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0002021HP:0002021Pyloric stenosis0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002021HP:0002021Pyloric stenosis0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA045219605011
HP:0002021HP:0002021Pyloric stenosis0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA043219605011
HP:0002021HP:0002021Pyloric stenosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0002021HP:0002021Pyloric stenosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0002021HP:0002021Pyloric stenosis0BCR CL E G H613261330ORPHA02171014151410
HP:0002021HP:0002021Pyloric stenosis0BCR CL E G H613261330ORPHA02141014151410
HP:0002021HP:0002021Pyloric stenosis0BIN1 CL E G H274169189ORPHA04871052601248
HP:0002021HP:0002021Pyloric stenosis0BIN1 CL E G H274169189ORPHA04311052601248
HP:0002021HP:0002021Pyloric stenosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0002021HP:0002021Pyloric stenosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0002021HP:0002021Pyloric stenosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0002021HP:0002021Pyloric stenosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0002021HP:0002021Pyloric stenosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0002021HP:0002021Pyloric stenosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0002021HP:0002021Pyloric stenosis0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA041329426612753
HP:0002021HP:0002021Pyloric stenosis0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA034929426612753
HP:0002021HP:0002021Pyloric stenosis0COL18A1 CL E G H807811571ORPHA014972195120328
HP:0002021HP:0002021Pyloric stenosis0COL18A1 CL E G H807811571ORPHA07612195120328
HP:0002021HP:0002021Pyloric stenosis0CRKL CL E G H1399261330ORPHA04062363602007
HP:0002021HP:0002021Pyloric stenosis0CRKL CL E G H1399261330ORPHA03982363602007
HP:0002021HP:0002021Pyloric stenosis0DHCR7 CL E G H1717818ORPHA05462860602858
HP:0002021HP:0002021Pyloric stenosis0DHCR7 CL E G H1717818ORPHA05112860602858
HP:0002021HP:0002021Pyloric stenosis0DNM2 CL E G H1785169189ORPHA07662974602378
HP:0002021HP:0002021Pyloric stenosis0DNM2 CL E G H1785169189ORPHA06752974602378
HP:0002021HP:0002021Pyloric stenosis0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA098923109612411
HP:0002021HP:0002021Pyloric stenosis0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA051923109612411
HP:0002021HP:0002021Pyloric stenosis0FIG4 CL E G H98963472MeningococcemiaORPHA064916873609390
HP:0002021HP:0002021Pyloric stenosis0FIG4 CL E G H98963472MeningococcemiaORPHA055816873609390
HP:0002021HP:0002021Pyloric stenosis0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA01743749193067
HP:0002021HP:0002021Pyloric stenosis0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA01723749193067
HP:0002021HP:0002021Pyloric stenosis0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM018933754300017
HP:0002021HP:0002021Pyloric stenosis0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM021303754300017
HP:0002021HP:0002021Pyloric stenosis0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0002021HP:0002021Pyloric stenosis0GABRD CL E G H25631606ORPHA03614084137163
HP:0002021HP:0002021Pyloric stenosis0GABRD CL E G H25631606ORPHA03404084137163
HP:0002021HP:0002021Pyloric stenosis0HDAC4 CL E G H97591001Branchial arch defectsORPHA040714063605314
HP:0002021HP:0002021Pyloric stenosis0HDAC4 CL E G H97591001Branchial arch defectsORPHA038514063605314
HP:0002021HP:0002021Pyloric stenosis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA028713315300269
HP:0002021HP:0002021Pyloric stenosis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA026913315300269
HP:0002021HP:0002021Pyloric stenosis0HNF1B CL E G H692893111ORPHA057911630189907
HP:0002021HP:0002021Pyloric stenosis0HNF1B CL E G H692893111ORPHA054511630189907
HP:0002021HP:0002021Pyloric stenosis0HNF4A CL E G H317293111ORPHA04035024600281
HP:0002021HP:0002021Pyloric stenosis0HNF4A CL E G H317293111ORPHA03635024600281
HP:0002021HP:0002021Pyloric stenosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0114324565612452
HP:0002021HP:0002021Pyloric stenosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0104724565612452
HP:0002021HP:0002021Pyloric stenosis0KCNAB2 CL E G H85141606ORPHA0916229601142
HP:0002021HP:0002021Pyloric stenosis0KCNAB2 CL E G H85141606ORPHA0886229601142
HP:0002021HP:0002021Pyloric stenosis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA09747132159555
HP:0002021HP:0002021Pyloric stenosis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA06737132159555
HP:0002021HP:0002021Pyloric stenosis0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01306859602614
HP:0002021HP:0002021Pyloric stenosis0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01166859602614
HP:0002021HP:0002021Pyloric stenosis0MAPK1 CL E G H5594261330ORPHA01206871176948
HP:0002021HP:0002021Pyloric stenosis0MAPK1 CL E G H5594261330ORPHA01176871176948
HP:0002021HP:0002021Pyloric stenosis0MTMR14 CL E G H64419169189ORPHA011426190611089
HP:0002021HP:0002021Pyloric stenosis0MTMR14 CL E G H64419169189ORPHA07526190611089
HP:0002021HP:0002021Pyloric stenosis0MYF6 CL E G H4618169189ORPHA0797566159991
HP:0002021HP:0002021Pyloric stenosis0MYF6 CL E G H4618169189ORPHA0747566159991
HP:0002021HP:0002021Pyloric stenosis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0106928862608667
HP:0002021HP:0002021Pyloric stenosis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0100328862608667
HP:0002021HP:0002021Pyloric stenosis0PIEZO2 CL E G H638952461ORPHA070926270613629
HP:0002021HP:0002021Pyloric stenosis0PIEZO2 CL E G H638952461ORPHA067226270613629
HP:0002021HP:0002021Pyloric stenosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0002021HP:0002021Pyloric stenosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0002021HP:0002021Pyloric stenosis0PRDM16 CL E G H639761606ORPHA098614000605557
HP:0002021HP:0002021Pyloric stenosis0PRDM16 CL E G H639761606ORPHA088614000605557
HP:0002021HP:0002021Pyloric stenosis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA02549811606462
HP:0002021HP:0002021Pyloric stenosis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA02399811606462
HP:0002021HP:0002021Pyloric stenosis0RERE CL E G H4731606ORPHA02579965605226
HP:0002021HP:0002021Pyloric stenosis0RERE CL E G H4731606ORPHA02299965605226
HP:0002021HP:0002021Pyloric stenosis0RYR1 CL E G H6261169189ORPHA0460410483180901
HP:0002021HP:0002021Pyloric stenosis0RYR1 CL E G H6261169189ORPHA0410110483180901
HP:0002021HP:0002021Pyloric stenosis0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA049225566615743
HP:0002021HP:0002021Pyloric stenosis0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA041825566615743
HP:0002021HP:0002021Pyloric stenosis0SH2B1 CL E G H25970261197ORPHA018930417608937
HP:0002021HP:0002021Pyloric stenosis0SH2B1 CL E G H25970261197ORPHA017530417608937
HP:0002021HP:0002021Pyloric stenosis0SKI CL E G H64971606ORPHA068610896164780
HP:0002021HP:0002021Pyloric stenosis0SKI CL E G H64971606ORPHA062910896164780
HP:0002021HP:0002021Pyloric stenosis0SLC2A10 CL E G H810313342ORPHA042413444606145
HP:0002021HP:0002021Pyloric stenosis0SLC2A10 CL E G H810313342ORPHA039213444606145
HP:0002021HP:0002021Pyloric stenosis0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA069011111300040
HP:0002021HP:0002021Pyloric stenosis0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA063511111300040
HP:0002021HP:0002021Pyloric stenosis0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA03222468606062
HP:0002021HP:0002021Pyloric stenosis0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA03112468606062
HP:0002021HP:0002021Pyloric stenosis0TBX3 CL E G H69263138ORPHA022111602601621
HP:0002021HP:0002021Pyloric stenosis0TBX3 CL E G H69263138ORPHA020111602601621
HP:0002021HP:0002021Pyloric stenosis0VAC14 CL E G H556973472MeningococcemiaORPHA016225507604632
HP:0002021HP:0002021Pyloric stenosis0VAC14 CL E G H556973472MeningococcemiaORPHA011825507604632
HP:0002021HP:0002021Pyloric stenosis0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM087314881605802
HP:0002021HP:0002021Pyloric stenosis0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM079014881605802


Genes (82) :ADAMTS3 AGPAT2 BCOR BCR BIN1 BSCL2 CAV1 CAVIN1 CCBE1 COL18A1 CRKL CYBA CYBB CYBC1 DHCR7 DHODH DNM2 FAT4 FGFR2 FIG4 FLI1 FLNA FOS GABRD HDAC4 HDAC8 HNF1B HNF4A HRAS KANSL1 KCNAB2 KMT2A LAMA3 LAMB3 LAMC2 LTBP4 MAP3K7 MAPK1 MED12 MTM1 MTMR14 MYF6 NAA10 NCF1 NCF2 NCF4 NEFH NEK9 NIPBL NPHS1 OTC PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PPARG PPP2R5D PRDM16 RAD21 RERE RYR1 SERPINH1 SETD5 SH2B1 SKI SLC2A10 SMC1A SMC3 TBX3 TFAP2A VAC14 ZEB2

Diseases (43) :2136 528 309800 261330 169189 613327 1571 379 818 270400 263750 101200 3472 216340 2308 300048 1606 1001 199 93111 218040 610443 226700 613177 617137 305450 310400 616924 614262 122470 256300 664 912 2461 248700 616355 613848 261197 3342 3138 181450 113620 235730
 

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