Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the upper urinary tract (HP:0010935)help
Parent Node:
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Abnormality of the ureter (HP:0000069)help
..Starting node
..expand
Hydroureter (HP:0000072)help
Term ID: 72
Name: Hydroureter
Synonym: Dilated ureter; Megaureter; Swelling of ureter; Ureteral dilatation; Uroureter; Wide ureter
Definition: The distention of the ureter with urine.
Comments:
Reference: HP:0000072
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital megaureter (HP:0008676) help
..expandNeoplasm of the ureter (HP:0100516) help
..expandUreteral agenesis (HP:0012300) help
..expandUreteral atresia (HP:0005999) help
..expandUreteral duplication (HP:0000073) help
..expandUreteral dysgenesis (HP:0008631) help
..expandUreteral obstruction (HP:0006000) help
..expandUreterocele (HP:0000070) help
..expandVesicoureteral reflux (HP:0000076) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000072HP:0000072Hydroureter0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000072HP:0000072Hydroureter0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000072HP:0000072Hydroureter0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000072HP:0000072Hydroureter0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA163145102545
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA167145102545
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA167145102545
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA163145102545
HP:0000072HP:0000072Hydroureter0BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0000072HP:0000072Hydroureter0BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0000072HP:0000072Hydroureter0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000072HP:0000072Hydroureter0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000072HP:0000072Hydroureter0CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA1941952118494
HP:0000072HP:0000072Hydroureter0CHRM3 CL E G H1131100100Prune belly syndrome100100C0033770OMIM1941952118494
HP:0000072HP:0000072Hydroureter0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0000072HP:0000072Hydroureter0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0000072HP:0000072Hydroureter0FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11363809601089
HP:0000072HP:0000072Hydroureter0FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11333809601089
HP:0000072HP:0000072Hydroureter0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16814319165240
HP:0000072HP:0000072Hydroureter0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16664319165240
HP:0000072HP:0000072Hydroureter0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0000072HP:0000072Hydroureter0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0000072HP:0000072Hydroureter0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0000072HP:0000072Hydroureter0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0000072HP:0000072Hydroureter0HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19818374613469
HP:0000072HP:0000072Hydroureter0HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19318374613469
HP:0000072HP:0000072Hydroureter0LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA1316647602715
HP:0000072HP:0000072Hydroureter0MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM13157108604896
HP:0000072HP:0000072Hydroureter0MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM12517108604896
HP:0000072HP:0000072Hydroureter0MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA124637569160745
HP:0000072HP:0000072Hydroureter0MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA123297569160745
HP:0000072HP:0000072Hydroureter0MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA112087590600922
HP:0000072HP:0000072Hydroureter0MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA110927590600922
HP:0000072HP:0000072Hydroureter0NAA10 CL E G H8260568Aggressive fibromatosisORPHA134818704300013
HP:0000072HP:0000072Hydroureter0NAA10 CL E G H8260568Aggressive fibromatosisORPHA133318704300013
HP:0000072HP:0000072Hydroureter0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0000072HP:0000072Hydroureter0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0000072HP:0000072Hydroureter0PLD1 CL E G H5337212093Cardiac valvular defect, developmental212093C1859330OMIM11389067602382
HP:0000072HP:0000072Hydroureter0PLD1 CL E G H5337212093Cardiac valvular defect, developmental212093C1859330OMIM11229067602382
HP:0000072HP:0000072Hydroureter0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115814263606144
HP:0000072HP:0000072Hydroureter0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115214263606144
HP:0000072HP:0000072Hydroureter0RIPK4 CL E G H541011401ORPHA1268496605706
HP:0000072HP:0000072Hydroureter0RIPK4 CL E G H541011401ORPHA1272496605706
HP:0000072HP:0000072Hydroureter0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000072HP:0000072Hydroureter0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000072HP:0000072Hydroureter0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM156015573611060
HP:0000072HP:0000072Hydroureter0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM132815573611060
HP:0000072HP:0000072Hydroureter0SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM15818122610928
HP:0000072HP:0000072Hydroureter0SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM15318122610928
HP:0000072HP:0000072Hydroureter0TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM16211595604613
HP:0000072HP:0000072Hydroureter0TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM15511595604613
HP:0000072HP:0000072Hydroureter0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000072HP:0000072Hydroureter0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000072HP:0000072Hydroureter0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1112112762606201
HP:0000072HP:0000072Hydroureter0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM192912762606201
HP:0000072HP:0008676Congenital megaureter1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000072HP:4000035Primary obstructive megaureter1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000072HP:4000035Primary obstructive megaureter1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000072HP:0008676Congenital megaureter1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000072HP:4000035Primary obstructive megaureter1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000072HP:0008676Congenital megaureter1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000072HP:0008676Congenital megaureter1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000072HP:4000035Primary obstructive megaureter1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000072HP:0008676Congenital megaureter1ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA163145102545
HP:0000072HP:4000035Primary obstructive megaureter1ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA167145102545
HP:0000072HP:4000035Primary obstructive megaureter1ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA163145102545
HP:0000072HP:0008676Congenital megaureter1ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA167145102545
HP:0000072HP:4000035Primary obstructive megaureter1ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA167145102545
HP:0000072HP:4000035Primary obstructive megaureter1ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA163145102545
HP:0000072HP:0008676Congenital megaureter1ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA167145102545
HP:0000072HP:0008676Congenital megaureter1ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA163145102545
HP:0000072HP:0008676Congenital megaureter1BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0000072HP:4000035Primary obstructive megaureter1BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0000072HP:4000035Primary obstructive megaureter1BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0000072HP:0008676Congenital megaureter1BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0000072HP:0008676Congenital megaureter1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000072HP:0008676Congenital megaureter1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000072HP:4000035Primary obstructive megaureter1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000072HP:4000035Primary obstructive megaureter1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000072HP:4000035Primary obstructive megaureter1CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA1941952118494
HP:0000072HP:0008676Congenital megaureter1CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA1941952118494
HP:0000072HP:4000035Primary obstructive megaureter1CHRM3 CL E G H1131100100Prune belly syndrome100100C0033770OMIM1941952118494
HP:0000072HP:0008676Congenital megaureter1CHRM3 CL E G H1131100100Prune belly syndrome100100C0033770OMIM1941952118494
HP:0000072HP:4000035Primary obstructive megaureter1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0000072HP:4000035Primary obstructive megaureter1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0000072HP:0008676Congenital megaureter1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM121303754300017
HP:0000072HP:0008676Congenital megaureter1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM118933754300017
HP:0000072HP:4000035Primary obstructive megaureter1FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11363809601089
HP:0000072HP:4000035Primary obstructive megaureter1FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11333809601089
HP:0000072HP:0008676Congenital megaureter1FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11363809601089
HP:0000072HP:0008676Congenital megaureter1FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11333809601089
HP:0000072HP:0008676Congenital megaureter1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16814319165240
HP:0000072HP:0008676Congenital megaureter1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16664319165240
HP:0000072HP:4000035Primary obstructive megaureter1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16814319165240
HP:0000072HP:4000035Primary obstructive megaureter1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM16664319165240
HP:0000072HP:0008676Congenital megaureter1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0000072HP:4000035Primary obstructive megaureter1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0000072HP:4000035Primary obstructive megaureter1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0000072HP:0008676Congenital megaureter1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0000072HP:4000035Primary obstructive megaureter1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0000072HP:0008676Congenital megaureter1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0000072HP:0008676Congenital megaureter1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0000072HP:4000035Primary obstructive megaureter1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0000072HP:4000035Primary obstructive megaureter1HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19818374613469
HP:0000072HP:4000035Primary obstructive megaureter1HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19318374613469
HP:0000072HP:0008676Congenital megaureter1HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19818374613469
HP:0000072HP:0008676Congenital megaureter1HPSE2 CL E G H60495236730Ochoa syndrome236730C0403555OMIM19318374613469
HP:0000072HP:4000035Primary obstructive megaureter1LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA1316647602715
HP:0000072HP:0008676Congenital megaureter1LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA1316647602715
HP:0000072HP:0008676Congenital megaureter1MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM13157108604896
HP:0000072HP:0008676Congenital megaureter1MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM12517108604896
HP:0000072HP:4000035Primary obstructive megaureter1MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM13157108604896
HP:0000072HP:4000035Primary obstructive megaureter1MKKS CL E G H8195236700McKusick Kaufman syndrome236700C0948368OMIM12517108604896
HP:0000072HP:4000035Primary obstructive megaureter1MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA124637569160745
HP:0000072HP:4000035Primary obstructive megaureter1MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA123297569160745
HP:0000072HP:0008676Congenital megaureter1MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA124637569160745
HP:0000072HP:0008676Congenital megaureter1MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA123297569160745
HP:0000072HP:0008676Congenital megaureter1MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA112087590600922
HP:0000072HP:0008676Congenital megaureter1MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA110927590600922
HP:0000072HP:4000035Primary obstructive megaureter1MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA112087590600922
HP:0000072HP:4000035Primary obstructive megaureter1MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA110927590600922
HP:0000072HP:4000035Primary obstructive megaureter1NAA10 CL E G H8260568Aggressive fibromatosisORPHA133318704300013
HP:0000072HP:0008676Congenital megaureter1NAA10 CL E G H8260568Aggressive fibromatosisORPHA134818704300013
HP:0000072HP:0008676Congenital megaureter1NAA10 CL E G H8260568Aggressive fibromatosisORPHA133318704300013
HP:0000072HP:4000035Primary obstructive megaureter1NAA10 CL E G H8260568Aggressive fibromatosisORPHA134818704300013
HP:0000072HP:4000035Primary obstructive megaureter1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0000072HP:4000035Primary obstructive megaureter1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0000072HP:0008676Congenital megaureter1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0000072HP:0008676Congenital megaureter1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0000072HP:0008676Congenital megaureter1PLD1 CL E G H5337212093Cardiac valvular defect, developmental212093C1859330OMIM11389067602382
HP:0000072HP:0008676Congenital megaureter1PLD1 CL E G H5337212093Cardiac valvular defect, developmental212093C1859330OMIM11229067602382
HP:0000072HP:4000035Primary obstructive megaureter1PLD1 CL E G H5337212093Cardiac valvular defect, developmental212093C1859330OMIM11389067602382
HP:0000072HP:4000035Primary obstructive megaureter1PLD1 CL E G H5337212093Cardiac valvular defect, developmental212093C1859330OMIM11229067602382
HP:0000072HP:4000035Primary obstructive megaureter1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115814263606144
HP:0000072HP:4000035Primary obstructive megaureter1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115214263606144
HP:0000072HP:0008676Congenital megaureter1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115814263606144
HP:0000072HP:0008676Congenital megaureter1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115214263606144
HP:0000072HP:0008676Congenital megaureter1RIPK4 CL E G H541011401ORPHA1268496605706
HP:0000072HP:4000035Primary obstructive megaureter1RIPK4 CL E G H541011401ORPHA1272496605706
HP:0000072HP:4000035Primary obstructive megaureter1RIPK4 CL E G H541011401ORPHA1268496605706
HP:0000072HP:0008676Congenital megaureter1RIPK4 CL E G H541011401ORPHA1272496605706
HP:0000072HP:0008676Congenital megaureter1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000072HP:0008676Congenital megaureter1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000072HP:4000035Primary obstructive megaureter1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000072HP:4000035Primary obstructive megaureter1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000072HP:0008676Congenital megaureter1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM156015573611060
HP:0000072HP:0008676Congenital megaureter1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM132815573611060
HP:0000072HP:4000035Primary obstructive megaureter1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM156015573611060
HP:0000072HP:4000035Primary obstructive megaureter1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM132815573611060
HP:0000072HP:0008676Congenital megaureter1SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM15818122610928
HP:0000072HP:0008676Congenital megaureter1SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM15318122610928
HP:0000072HP:4000035Primary obstructive megaureter1SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM15818122610928
HP:0000072HP:4000035Primary obstructive megaureter1SOX17 CL E G H64321613674Vesicoureteral reflux 3613674C3150927OMIM15318122610928
HP:0000072HP:4000035Primary obstructive megaureter1TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM16211595604613
HP:0000072HP:4000035Primary obstructive megaureter1TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM15511595604613
HP:0000072HP:0008676Congenital megaureter1TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM16211595604613
HP:0000072HP:0008676Congenital megaureter1TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM15511595604613
HP:0000072HP:0008676Congenital megaureter1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000072HP:0008676Congenital megaureter1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000072HP:4000035Primary obstructive megaureter1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000072HP:4000035Primary obstructive megaureter1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000072HP:4000035Primary obstructive megaureter1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1112112762606201
HP:0000072HP:4000035Primary obstructive megaureter1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM192912762606201
HP:0000072HP:0008676Congenital megaureter1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1112112762606201
HP:0000072HP:0008676Congenital megaureter1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM192912762606201
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000072HP:0000072Hydroureter0AQP2 CL E G H359223ORPHA0247634107777
HP:0000072HP:0000072Hydroureter0AQP2 CL E G H359223ORPHA0239634107777
HP:0000072HP:0000072Hydroureter0AVPR2 CL E G H554223ORPHA0382897300538
HP:0000072HP:0000072Hydroureter0AVPR2 CL E G H554223ORPHA0371897300538
HP:0000072HP:0000072Hydroureter0BRCA1 CL E G H67284ORPHA0125861100113705
HP:0000072HP:0000072Hydroureter0BRCA1 CL E G H67284ORPHA0122071100113705
HP:0000072HP:0000072Hydroureter0BRCA2 CL E G H67584ORPHA0147421101600185
HP:0000072HP:0000072Hydroureter0BRCA2 CL E G H67584ORPHA0139121101600185
HP:0000072HP:0000072Hydroureter0BRIP1 CL E G H8399084ORPHA0377820473605882
HP:0000072HP:0000072Hydroureter0BRIP1 CL E G H8399084ORPHA0346420473605882
HP:0000072HP:0000072Hydroureter0DYNC2LI1 CL E G H51626289ORPHA030024595617083
HP:0000072HP:0000072Hydroureter0DYNC2LI1 CL E G H51626289ORPHA026224595617083
HP:0000072HP:0000072Hydroureter0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM0683179131243
HP:0000072HP:0000072Hydroureter0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM0603179131243
HP:0000072HP:0000072Hydroureter0ERCC4 CL E G H207284ORPHA05383436133520
HP:0000072HP:0000072Hydroureter0ERCC4 CL E G H207284ORPHA04693436133520
HP:0000072HP:0000072Hydroureter0EVC CL E G H2121289ORPHA011093497604831
HP:0000072HP:0000072Hydroureter0EVC CL E G H2121289ORPHA010143497604831
HP:0000072HP:0000072Hydroureter0EVC2 CL E G H132884289ORPHA0104719747607261
HP:0000072HP:0000072Hydroureter0EVC2 CL E G H132884289ORPHA092919747607261
HP:0000072HP:0000072Hydroureter0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM029122140611061
HP:0000072HP:0000072Hydroureter0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM024522140611061
HP:0000072HP:0000072Hydroureter0FANCA CL E G H217584ORPHA031463582607139
HP:0000072HP:0000072Hydroureter0FANCA CL E G H217584ORPHA026583582607139
HP:0000072HP:0000072Hydroureter0FANCB CL E G H218784ORPHA04813583300515
HP:0000072HP:0000072Hydroureter0FANCB CL E G H218784ORPHA04103583300515
HP:0000072HP:0000072Hydroureter0FANCC CL E G H217684ORPHA011753584613899
HP:0000072HP:0000072Hydroureter0FANCC CL E G H217684ORPHA010793584613899
HP:0000072HP:0000072Hydroureter0FANCD2 CL E G H217784ORPHA08643585613984
HP:0000072HP:0000072Hydroureter0FANCD2 CL E G H217784ORPHA07293585613984
HP:0000072HP:0000072Hydroureter0FANCE CL E G H217884ORPHA03603586613976
HP:0000072HP:0000072Hydroureter0FANCE CL E G H217884ORPHA02813586613976
HP:0000072HP:0000072Hydroureter0FANCF CL E G H218884ORPHA03123587613897
HP:0000072HP:0000072Hydroureter0FANCF CL E G H218884ORPHA02453587613897
HP:0000072HP:0000072Hydroureter0FANCG CL E G H218984ORPHA05353588602956
HP:0000072HP:0000072Hydroureter0FANCG CL E G H218984ORPHA04733588602956
HP:0000072HP:0000072Hydroureter0FANCI CL E G H5521584ORPHA0104025568611360
HP:0000072HP:0000072Hydroureter0FANCI CL E G H5521584ORPHA079125568611360
HP:0000072HP:0000072Hydroureter0FANCL CL E G H5512084ORPHA034820748608111
HP:0000072HP:0000072Hydroureter0FANCL CL E G H5512084ORPHA026120748608111
HP:0000072HP:0000072Hydroureter0FANCM CL E G H5769784ORPHA0145023168609644
HP:0000072HP:0000072Hydroureter0FANCM CL E G H5769784ORPHA0117923168609644
HP:0000072HP:0000072Hydroureter0GLI1 CL E G H2735289ORPHA0404317165220
HP:0000072HP:0000072Hydroureter0LONP1 CL E G H93611458ORPHA03579479605490
HP:0000072HP:0000072Hydroureter0LONP1 CL E G H93611458ORPHA02219479605490
HP:0000072HP:0000072Hydroureter0MAD2L2 CL E G H1045984ORPHA0576764604094
HP:0000072HP:0000072Hydroureter0MAD2L2 CL E G H1045984ORPHA0546764604094
HP:0000072HP:0000072Hydroureter0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000072HP:0000072Hydroureter0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000072HP:0000072Hydroureter0PALB2 CL E G H7972884ORPHA0424526144610355
HP:0000072HP:0000072Hydroureter0PALB2 CL E G H7972884ORPHA0392526144610355
HP:0000072HP:0000072Hydroureter0PIEZO2 CL E G H638952461ORPHA070926270613629
HP:0000072HP:0000072Hydroureter0PIEZO2 CL E G H638952461ORPHA067226270613629
HP:0000072HP:0000072Hydroureter0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000072HP:0000072Hydroureter0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000072HP:0000072Hydroureter0RAD51 CL E G H588884ORPHA0819817179617
HP:0000072HP:0000072Hydroureter0RAD51 CL E G H588884ORPHA0729817179617
HP:0000072HP:0000072Hydroureter0RAD51C CL E G H588984ORPHA014229820602774
HP:0000072HP:0000072Hydroureter0RAD51C CL E G H588984ORPHA013109820602774
HP:0000072HP:0000072Hydroureter0RFWD3 CL E G H5515984ORPHA05825539614151
HP:0000072HP:0000072Hydroureter0RFWD3 CL E G H5515984ORPHA05725539614151
HP:0000072HP:0000072Hydroureter0SLX4 CL E G H8446484ORPHA0141323845613278
HP:0000072HP:0000072Hydroureter0SLX4 CL E G H8446484ORPHA0109723845613278
HP:0000072HP:0000072Hydroureter0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM03222468606062
HP:0000072HP:0000072Hydroureter0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM03112468606062
HP:0000072HP:0000072Hydroureter0UBE2T CL E G H2908984ORPHA02825009610538
HP:0000072HP:0000072Hydroureter0UBE2T CL E G H2908984ORPHA02525009610538
HP:0000072HP:0000072Hydroureter0XRCC2 CL E G H751684ORPHA044712829600375
HP:0000072HP:0000072Hydroureter0XRCC2 CL E G H751684ORPHA041312829600375
HP:0000072HP:0008676Congenital megaureter1AQP2 CL E G H359223ORPHA0247634107777
HP:0000072HP:0008676Congenital megaureter1AQP2 CL E G H359223ORPHA0239634107777
HP:0000072HP:4000035Primary obstructive megaureter1AQP2 CL E G H359223ORPHA0247634107777
HP:0000072HP:4000035Primary obstructive megaureter1AQP2 CL E G H359223ORPHA0239634107777
HP:0000072HP:4000035Primary obstructive megaureter1AVPR2 CL E G H554223ORPHA0382897300538
HP:0000072HP:4000035Primary obstructive megaureter1AVPR2 CL E G H554223ORPHA0371897300538
HP:0000072HP:0008676Congenital megaureter1AVPR2 CL E G H554223ORPHA0382897300538
HP:0000072HP:0008676Congenital megaureter1AVPR2 CL E G H554223ORPHA0371897300538
HP:0000072HP:0008676Congenital megaureter1BRCA1 CL E G H67284ORPHA0125861100113705
HP:0000072HP:0008676Congenital megaureter1BRCA1 CL E G H67284ORPHA0122071100113705
HP:0000072HP:4000035Primary obstructive megaureter1BRCA1 CL E G H67284ORPHA0125861100113705
HP:0000072HP:4000035Primary obstructive megaureter1BRCA1 CL E G H67284ORPHA0122071100113705
HP:0000072HP:4000035Primary obstructive megaureter1BRCA2 CL E G H67584ORPHA0147421101600185
HP:0000072HP:4000035Primary obstructive megaureter1BRCA2 CL E G H67584ORPHA0139121101600185
HP:0000072HP:0008676Congenital megaureter1BRCA2 CL E G H67584ORPHA0147421101600185
HP:0000072HP:0008676Congenital megaureter1BRCA2 CL E G H67584ORPHA0139121101600185
HP:0000072HP:0008676Congenital megaureter1BRIP1 CL E G H8399084ORPHA0377820473605882
HP:0000072HP:0008676Congenital megaureter1BRIP1 CL E G H8399084ORPHA0346420473605882
HP:0000072HP:4000035Primary obstructive megaureter1BRIP1 CL E G H8399084ORPHA0377820473605882
HP:0000072HP:4000035Primary obstructive megaureter1BRIP1 CL E G H8399084ORPHA0346420473605882
HP:0000072HP:0008676Congenital megaureter1DYNC2LI1 CL E G H51626289ORPHA030024595617083
HP:0000072HP:0008676Congenital megaureter1DYNC2LI1 CL E G H51626289ORPHA026224595617083
HP:0000072HP:4000035Primary obstructive megaureter1DYNC2LI1 CL E G H51626289ORPHA030024595617083
HP:0000072HP:4000035Primary obstructive megaureter1DYNC2LI1 CL E G H51626289ORPHA026224595617083
HP:0000072HP:4000035Primary obstructive megaureter1EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM0683179131243
HP:0000072HP:4000035Primary obstructive megaureter1EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM0603179131243
HP:0000072HP:0008676Congenital megaureter1EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM0683179131243
HP:0000072HP:0008676Congenital megaureter1EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM0603179131243
HP:0000072HP:4000035Primary obstructive megaureter1ERCC4 CL E G H207284ORPHA05383436133520
HP:0000072HP:4000035Primary obstructive megaureter1ERCC4 CL E G H207284ORPHA04693436133520
HP:0000072HP:0008676Congenital megaureter1ERCC4 CL E G H207284ORPHA05383436133520
HP:0000072HP:0008676Congenital megaureter1ERCC4 CL E G H207284ORPHA04693436133520
HP:0000072HP:4000035Primary obstructive megaureter1EVC CL E G H2121289ORPHA011093497604831
HP:0000072HP:4000035Primary obstructive megaureter1EVC CL E G H2121289ORPHA010143497604831
HP:0000072HP:0008676Congenital megaureter1EVC CL E G H2121289ORPHA011093497604831
HP:0000072HP:0008676Congenital megaureter1EVC CL E G H2121289ORPHA010143497604831
HP:0000072HP:0008676Congenital megaureter1EVC2 CL E G H132884289ORPHA0104719747607261
HP:0000072HP:0008676Congenital megaureter1EVC2 CL E G H132884289ORPHA092919747607261
HP:0000072HP:4000035Primary obstructive megaureter1EVC2 CL E G H132884289ORPHA0104719747607261
HP:0000072HP:4000035Primary obstructive megaureter1EVC2 CL E G H132884289ORPHA092919747607261
HP:0000072HP:0008676Congenital megaureter1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM029122140611061
HP:0000072HP:0008676Congenital megaureter1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM024522140611061
HP:0000072HP:4000035Primary obstructive megaureter1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM029122140611061
HP:0000072HP:4000035Primary obstructive megaureter1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM024522140611061
HP:0000072HP:0008676Congenital megaureter1FANCA CL E G H217584ORPHA031463582607139
HP:0000072HP:0008676Congenital megaureter1FANCA CL E G H217584ORPHA026583582607139
HP:0000072HP:4000035Primary obstructive megaureter1FANCA CL E G H217584ORPHA031463582607139
HP:0000072HP:4000035Primary obstructive megaureter1FANCA CL E G H217584ORPHA026583582607139
HP:0000072HP:4000035Primary obstructive megaureter1FANCB CL E G H218784ORPHA04813583300515
HP:0000072HP:4000035Primary obstructive megaureter1FANCB CL E G H218784ORPHA04103583300515
HP:0000072HP:0008676Congenital megaureter1FANCB CL E G H218784ORPHA04813583300515
HP:0000072HP:0008676Congenital megaureter1FANCB CL E G H218784ORPHA04103583300515
HP:0000072HP:0008676Congenital megaureter1FANCC CL E G H217684ORPHA011753584613899
HP:0000072HP:0008676Congenital megaureter1FANCC CL E G H217684ORPHA010793584613899
HP:0000072HP:4000035Primary obstructive megaureter1FANCC CL E G H217684ORPHA011753584613899
HP:0000072HP:4000035Primary obstructive megaureter1FANCC CL E G H217684ORPHA010793584613899
HP:0000072HP:4000035Primary obstructive megaureter1FANCD2 CL E G H217784ORPHA08643585613984
HP:0000072HP:4000035Primary obstructive megaureter1FANCD2 CL E G H217784ORPHA07293585613984
HP:0000072HP:0008676Congenital megaureter1FANCD2 CL E G H217784ORPHA08643585613984
HP:0000072HP:0008676Congenital megaureter1FANCD2 CL E G H217784ORPHA07293585613984
HP:0000072HP:0008676Congenital megaureter1FANCE CL E G H217884ORPHA03603586613976
HP:0000072HP:0008676Congenital megaureter1FANCE CL E G H217884ORPHA02813586613976
HP:0000072HP:4000035Primary obstructive megaureter1FANCE CL E G H217884ORPHA03603586613976
HP:0000072HP:4000035Primary obstructive megaureter1FANCE CL E G H217884ORPHA02813586613976
HP:0000072HP:4000035Primary obstructive megaureter1FANCF CL E G H218884ORPHA03123587613897
HP:0000072HP:4000035Primary obstructive megaureter1FANCF CL E G H218884ORPHA02453587613897
HP:0000072HP:0008676Congenital megaureter1FANCF CL E G H218884ORPHA03123587613897
HP:0000072HP:0008676Congenital megaureter1FANCF CL E G H218884ORPHA02453587613897
HP:0000072HP:0008676Congenital megaureter1FANCG CL E G H218984ORPHA05353588602956
HP:0000072HP:0008676Congenital megaureter1FANCG CL E G H218984ORPHA04733588602956
HP:0000072HP:4000035Primary obstructive megaureter1FANCG CL E G H218984ORPHA05353588602956
HP:0000072HP:4000035Primary obstructive megaureter1FANCG CL E G H218984ORPHA04733588602956
HP:0000072HP:4000035Primary obstructive megaureter1FANCI CL E G H5521584ORPHA0104025568611360
HP:0000072HP:4000035Primary obstructive megaureter1FANCI CL E G H5521584ORPHA079125568611360
HP:0000072HP:0008676Congenital megaureter1FANCI CL E G H5521584ORPHA0104025568611360
HP:0000072HP:0008676Congenital megaureter1FANCI CL E G H5521584ORPHA079125568611360
HP:0000072HP:0008676Congenital megaureter1FANCL CL E G H5512084ORPHA034820748608111
HP:0000072HP:0008676Congenital megaureter1FANCL CL E G H5512084ORPHA026120748608111
HP:0000072HP:4000035Primary obstructive megaureter1FANCL CL E G H5512084ORPHA034820748608111
HP:0000072HP:4000035Primary obstructive megaureter1FANCL CL E G H5512084ORPHA026120748608111
HP:0000072HP:4000035Primary obstructive megaureter1FANCM CL E G H5769784ORPHA0145023168609644
HP:0000072HP:4000035Primary obstructive megaureter1FANCM CL E G H5769784ORPHA0117923168609644
HP:0000072HP:0008676Congenital megaureter1FANCM CL E G H5769784ORPHA0145023168609644
HP:0000072HP:0008676Congenital megaureter1FANCM CL E G H5769784ORPHA0117923168609644
HP:0000072HP:4000035Primary obstructive megaureter1GLI1 CL E G H2735289ORPHA0404317165220
HP:0000072HP:0008676Congenital megaureter1GLI1 CL E G H2735289ORPHA0404317165220
HP:0000072HP:4000035Primary obstructive megaureter1LONP1 CL E G H93611458ORPHA02219479605490
HP:0000072HP:0008676Congenital megaureter1LONP1 CL E G H93611458ORPHA03579479605490
HP:0000072HP:0008676Congenital megaureter1LONP1 CL E G H93611458ORPHA02219479605490
HP:0000072HP:4000035Primary obstructive megaureter1LONP1 CL E G H93611458ORPHA03579479605490
HP:0000072HP:0008676Congenital megaureter1MAD2L2 CL E G H1045984ORPHA0576764604094
HP:0000072HP:0008676Congenital megaureter1MAD2L2 CL E G H1045984ORPHA0546764604094
HP:0000072HP:4000035Primary obstructive megaureter1MAD2L2 CL E G H1045984ORPHA0576764604094
HP:0000072HP:4000035Primary obstructive megaureter1MAD2L2 CL E G H1045984ORPHA0546764604094
HP:0000072HP:4000035Primary obstructive megaureter1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000072HP:4000035Primary obstructive megaureter1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000072HP:0008676Congenital megaureter1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000072HP:0008676Congenital megaureter1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000072HP:4000035Primary obstructive megaureter1PALB2 CL E G H7972884ORPHA0424526144610355
HP:0000072HP:4000035Primary obstructive megaureter1PALB2 CL E G H7972884ORPHA0392526144610355
HP:0000072HP:0008676Congenital megaureter1PALB2 CL E G H7972884ORPHA0424526144610355
HP:0000072HP:0008676Congenital megaureter1PALB2 CL E G H7972884ORPHA0392526144610355
HP:0000072HP:0008676Congenital megaureter1PIEZO2 CL E G H638952461ORPHA070926270613629
HP:0000072HP:0008676Congenital megaureter1PIEZO2 CL E G H638952461ORPHA067226270613629
HP:0000072HP:4000035Primary obstructive megaureter1PIEZO2 CL E G H638952461ORPHA070926270613629
HP:0000072HP:4000035Primary obstructive megaureter1PIEZO2 CL E G H638952461ORPHA067226270613629
HP:0000072HP:0008676Congenital megaureter1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000072HP:4000035Primary obstructive megaureter1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000072HP:4000035Primary obstructive megaureter1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000072HP:0008676Congenital megaureter1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000072HP:0008676Congenital megaureter1RAD51 CL E G H588884ORPHA0819817179617
HP:0000072HP:0008676Congenital megaureter1RAD51 CL E G H588884ORPHA0729817179617
HP:0000072HP:4000035Primary obstructive megaureter1RAD51 CL E G H588884ORPHA0819817179617
HP:0000072HP:4000035Primary obstructive megaureter1RAD51 CL E G H588884ORPHA0729817179617
HP:0000072HP:4000035Primary obstructive megaureter1RAD51C CL E G H588984ORPHA014229820602774
HP:0000072HP:4000035Primary obstructive megaureter1RAD51C CL E G H588984ORPHA013109820602774
HP:0000072HP:0008676Congenital megaureter1RAD51C CL E G H588984ORPHA014229820602774
HP:0000072HP:0008676Congenital megaureter1RAD51C CL E G H588984ORPHA013109820602774
HP:0000072HP:0008676Congenital megaureter1RFWD3 CL E G H5515984ORPHA05825539614151
HP:0000072HP:0008676Congenital megaureter1RFWD3 CL E G H5515984ORPHA05725539614151
HP:0000072HP:4000035Primary obstructive megaureter1RFWD3 CL E G H5515984ORPHA05825539614151
HP:0000072HP:4000035Primary obstructive megaureter1RFWD3 CL E G H5515984ORPHA05725539614151
HP:0000072HP:4000035Primary obstructive megaureter1SLX4 CL E G H8446484ORPHA0141323845613278
HP:0000072HP:4000035Primary obstructive megaureter1SLX4 CL E G H8446484ORPHA0109723845613278
HP:0000072HP:0008676Congenital megaureter1SLX4 CL E G H8446484ORPHA0141323845613278
HP:0000072HP:0008676Congenital megaureter1SLX4 CL E G H8446484ORPHA0109723845613278
HP:0000072HP:4000035Primary obstructive megaureter1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM03222468606062
HP:0000072HP:4000035Primary obstructive megaureter1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM03112468606062
HP:0000072HP:0008676Congenital megaureter1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM03222468606062
HP:0000072HP:0008676Congenital megaureter1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM03112468606062
HP:0000072HP:0008676Congenital megaureter1UBE2T CL E G H2908984ORPHA02825009610538
HP:0000072HP:0008676Congenital megaureter1UBE2T CL E G H2908984ORPHA02525009610538
HP:0000072HP:4000035Primary obstructive megaureter1UBE2T CL E G H2908984ORPHA02825009610538
HP:0000072HP:4000035Primary obstructive megaureter1UBE2T CL E G H2908984ORPHA02525009610538
HP:0000072HP:4000035Primary obstructive megaureter1XRCC2 CL E G H751684ORPHA044712829600375
HP:0000072HP:4000035Primary obstructive megaureter1XRCC2 CL E G H751684ORPHA041312829600375
HP:0000072HP:0008676Congenital megaureter1XRCC2 CL E G H751684ORPHA044712829600375
HP:0000072HP:0008676Congenital megaureter1XRCC2 CL E G H751684ORPHA041312829600375


Genes (60) :ACTB ACTG1 ACTG2 AQP2 AVPR2 BCOR BRCA1 BRCA2 BRIP1 CHRM3 DYNC2LI1 EDNRA ERCC4 EVC EVC2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FLNA FOXF1 GLI1 GLI3 GPC3 GPC4 HPSE2 LMOD1 LONP1 MAD2L2 MBTPS2 MKKS MYH11 MYLK NAA10 PALB2 PIEZO2 PIGN PLD1 RAB23 RAD51 RAD51C RFWD3 RIPK4 RNU4ATAC SETBP1 SLX4 SMC3 SOX17 TBX18 TP63 UBE2T WFS1 XRCC2

Diseases (33) :2995 2241 2604 223 568 309800 84 2970 100100 289 616367 259775 305620 265380 146510 373 236730 1458 2273 236700 2461 280633 212093 201000 1401 2636 269150 610759 613674 143400 604292 222300 2190
 

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