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
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000072HP:0000072Hydroureter0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0000072HP:0000072Hydroureter0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040281 - Very frequent23
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent23
HP:0000072HP:0000072Hydroureter0ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0000072HP:0000072Hydroureter0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040283 - Occasional75
HP:0000072HP:0000072Hydroureter0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000072HP:0000072Hydroureter0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040283 - Occasional67
HP:0000072HP:0000072Hydroureter0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000072HP:0000072Hydroureter0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000072HP:0000072Hydroureter0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000072HP:0000072Hydroureter0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000072HP:0000072Hydroureter0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000072HP:0000072Hydroureter0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040281 - Very frequent4
HP:0000072HP:0000072Hydroureter0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0000072HP:0000072Hydroureter0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000072HP:0000072Hydroureter0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional7
HP:0000072HP:0000072Hydroureter0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopeciaHP:0040283 - Occasional3
HP:0000072HP:0000072Hydroureter0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000072HP:0000072Hydroureter0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000072HP:0000072Hydroureter0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000072HP:0000072Hydroureter0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional209
HP:0000072HP:0000072Hydroureter0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional137
HP:0000072HP:0000072Hydroureter0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0000072HP:0000072Hydroureter0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000072HP:0000072Hydroureter0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000072HP:0000072Hydroureter0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000072HP:0000072Hydroureter0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000072HP:0000072Hydroureter0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000072HP:0000072Hydroureter0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000072HP:0000072Hydroureter0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000072HP:0000072Hydroureter0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000072HP:0000072Hydroureter0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000072HP:0000072Hydroureter0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000072HP:0000072Hydroureter0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000072HP:0000072Hydroureter0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0000072HP:0000072Hydroureter0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional1
HP:0000072HP:0000072Hydroureter0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000072HP:0000072Hydroureter0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0000072HP:0000072Hydroureter0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0000072HP:0000072Hydroureter0HPSE2 CL E G H6049518374OMIM:236730Urofacial syndrome.9
HP:0000072HP:0000072Hydroureter0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000072HP:0000072Hydroureter0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000072HP:0000072Hydroureter0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000072HP:0000072Hydroureter0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000072HP:0000072Hydroureter0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent
HP:0000072HP:0000072Hydroureter0LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000072HP:0000072Hydroureter0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040283 - Occasional8
HP:0000072HP:0000072Hydroureter0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000072HP:0000072Hydroureter0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000072HP:0000072Hydroureter0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000072HP:0000072Hydroureter0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0000072HP:0000072Hydroureter0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent418
HP:0000072HP:0000072Hydroureter0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040282 - Frequent326
HP:0000072HP:0000072Hydroureter0MYLK CL E G H46387590OMIM:249210MOVED TO 155310326
HP:0000072HP:0000072Hydroureter0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000072HP:0000072Hydroureter0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000072HP:0000072Hydroureter0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18HP:0040284 - Very rare31
HP:0000072HP:0000072Hydroureter0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000072HP:0000072Hydroureter0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0000072HP:0000072Hydroureter0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000072HP:0000072Hydroureter0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000072HP:0000072Hydroureter0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0000072HP:0000072Hydroureter0PLD1 CL E G H53379067OMIM:212093Cardiac valvular defect, developmental.4
HP:0000072HP:0000072Hydroureter0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0000072HP:0000072Hydroureter0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0000072HP:0000072Hydroureter0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000072HP:0000072Hydroureter0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000072HP:0000072Hydroureter0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000072HP:0000072Hydroureter0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000072HP:0000072Hydroureter0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0000072HP:0000072Hydroureter0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0000072HP:0000072Hydroureter0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000072HP:0000072Hydroureter0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000072HP:0000072Hydroureter0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000072HP:0000072Hydroureter0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0000072HP:0000072Hydroureter0SOX17 CL E G H6432118122OMIM:613674Vesicoureteral reflux 3.3
HP:0000072HP:0000072Hydroureter0TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 2.5
HP:0000072HP:0000072Hydroureter0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000072HP:0000072Hydroureter0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000072HP:0000072Hydroureter0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0000072HP:0000072Hydroureter0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000072HP:4000035Primary obstructive megaureter1 CL E G H
HP:0000072HP:0008676Congenital megaureter1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000072HP:0008676Congenital megaureter1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0000072HP:0008676Congenital megaureter1TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 2.5


Genes (74) :ACTB ACTG1 ACTG2 AQP2 ARID1B AVPR2 BCOR BRCA1 BRCA2 BRIP1 CHRM3 DDB1 DYNC2LI1 EDNRA ERCC4 ERCC6 ERCC8 EVC EVC2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FLNA FOXF1 GLI1 GLI3 GPC3 GPC4 HPSE2 HS2ST1 LAMA3 LAMB3 LAMC2 LMOD1 LONP1 MAD2L2 MBTPS2 MED12 MKKS MYH11 MYLK NAA10 NDUFAF3 PALB2 PIEZO2 PIGN PIGT PLD1 PRKACA PRKACB RAB23 RAD51 RAD51C RFWD3 RIPK4 RNU4ATAC SETBP1 SLX4 SMC3 SOS2 SOX17 TBX18 TP63 UBE2T WFS1 XRCC2

Diseases (45) :ORPHA:2995 ORPHA:2604 ORPHA:2241 OMIM:619431 ORPHA:223 OMIM:135900 ORPHA:568 OMIM:309800 ORPHA:84 ORPHA:2970 OMIM:100100 OMIM:619426 ORPHA:289 OMIM:616367 ORPHA:90324 OMIM:259775 OMIM:305620 OMIM:265380 OMIM:146510 ORPHA:373 OMIM:236730 OMIM:619194 ORPHA:79404 OMIM:619362 ORPHA:1458 ORPHA:2273 OMIM:301068 OMIM:236700 OMIM:249210 OMIM:618240 ORPHA:2461 ORPHA:280633 ORPHA:369837 OMIM:615398 OMIM:212093 OMIM:201000 ORPHA:1401 ORPHA:2636 OMIM:269150 OMIM:610759 OMIM:616559 OMIM:613674 OMIM:143400 OMIM:604292 OMIM:222300
 

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