Phenotype: Hydroureter (HP:0000072)
Associated genes and diseases:
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: MYLK
disease_id: OMIM:249210
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
gene_symbol: MYLK
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: BCOR
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: ACTG2
disease_id: OMIM:619431
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5
gene_symbol: ACTG2
disease_id: ORPHA:2604
disease_name: Familial visceral myopathy
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
gene_symbol: ACTG2
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: RIPK4
disease_id: ORPHA:1401
disease_name: CHAND syndrome
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: MKKS
disease_id: OMIM:236700
disease_name: MCKUSICK-KAUFMAN SYNDROME
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: CHRM3
disease_id: OMIM:100100
disease_name: PRUNE BELLY SYNDROME
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: AVPR2
disease_id: ORPHA:223
disease_name: Arginine vasopressin resistance
Nephrogenic diabetes insipidus
gene_symbol: AQP2
disease_id: ORPHA:223
disease_name: Arginine vasopressin resistance
Nephrogenic diabetes insipidus
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: LMOD1
disease_id: OMIM:619362
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3
gene_symbol: LMOD1
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: MYH11
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: NDUFAF3
disease_id: OMIM:618240
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: RNU4ATAC
disease_id: ORPHA:2636
disease_name: Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
gene_symbol: SOX17
disease_id: OMIM:613674
disease_name: VESICOURETERAL REFLUX 3
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: BBS12
disease_id: OMIM:615989
disease_name: BARDET-BIEDL SYNDROME 12
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: SOS2
disease_id: OMIM:616559
disease_name: NOONAN SYNDROME 9
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
gene_symbol: TBX18
disease_id: OMIM:143400
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: HPSE2
disease_id: OMIM:236730
disease_name: UROFACIAL SYNDROME 1
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome