Abnormality of the urethra

Symptom Information:

Symptom ID: HPO:0000795
Urethra anomaly [Orphanet:37760]
Congenital anomaly of urethra (disorder) [Orphanet:37760]
Disorder of urethra (disorder) [Orphanet:37760]
Congenital anomaly of urethra [Orphanet:37760]
Urethral Diseases [Orphanet:37760]
Urethral anomalies/stenosis/posterior urethral valves/megalocystis [Orphanet:37760]
Congenital urethral anomaly [Orphanet:37760]
Congenital urethral anomaly [MedDRA:10062349]
Congenital urethral anomaly NOS [MedDRA:10062349]
Bladder distension [MedDRA:10049731]
Megalocystis [Orphanet:37760]
Bladder distention (finding) [Orphanet:37760]
Bladder distention [Orphanet:37760]
Megacystis [Orphanet:37760]
Megalocystis [OMIM:Megalocystis]
Cross references:
Orphanet:37760 "Urethral anomalies/stenosis/posterior urethral valves/megalocystis" [Orphanet:37760]
OMIM: "Megalocystis" [OMIM:Megalocystis]
UMLS:C0266342 "Congenital anomaly of urethra" [Orphanet:37760]
UMLS:C0041969 "Urethral Diseases" [Orphanet:37760]
UMLS:C0005687 "Bladder distention" [Orphanet:37760]
UMLS:C1855311 "Megacystis" [Orphanet:37760]
Is a (Direct Parents):
Orphanet Megacystis
HPO         Abnormality of the lower urinary tract
Orphanet Bladder and ureter anomalies
MedDRA Renal and urinary tract disorders congenital NEC
HPO         Abnormality of male external genitalia
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the lower urinary tract(HPO:0010936)
                Abnormality of the urethra(HPO:0000795)
          Abnormality of the genital system(HPO:0000078)
             Abnormal genital system morphology(HPO:0012243)
                Abnormality of the male genitalia(HPO:0010461)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the urethra(HPO:0000795)
                Abnormal external genitalia(HPO:0000811)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the urethra(HPO:0000795)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Renal and urinary tract disorders congenital(MedDRA:10038360)
       Renal and urinary tract disorders congenital NEC(MedDRA:10038361)
          Abnormality of the urethra(HPO:0000795)
Database Frequency: 38 / 7739

All diseases associated with this symptom:

22q11.2 microduplication syndrome (Orphanet:1727)
46,XX disorder of sex development - anorectal anomalies (Orphanet:2973)
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (Orphanet:752)
Alström syndrome (Orphanet:64)
Bardet-Biedl syndrome 12 (OMIM:615989)
Bilateral renal agenesis (Orphanet:1848)
Bladder exstrophy (Orphanet:93930)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Double uterus - hemivagina - renal agenesis (Orphanet:3411)
Dyskeratosis congenita (Orphanet:1775)
EEC syndrome (Orphanet:1896)
Embryonary disorganization syndrome (Orphanet:1664)
Epispadias (Orphanet:93928)
Floating-Harbor syndrome (Orphanet:2044)
Frontometaphyseal dysplasia (Orphanet:1826)
Generalized dominant dystrophic epidermolysis bullosa (Orphanet:231568)
Hand-foot-genital syndrome (Orphanet:2438)
Hereditary acrokeratotic poikiloderma, Weary type (Orphanet:2907)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Junctional epidermolysis bullosa, non-Herlitz type (Orphanet:89840)
Juvenile idiopathic arthritis (Orphanet:92)
Kindler syndrome (Orphanet:2908)
Lyell syndrome (Orphanet:537)
McKusick-Kaufman syndrome (Orphanet:2473)
Meckel syndrome (Orphanet:564)
Ochoa syndrome (Orphanet:2704)
Penoscrotal transposition (Orphanet:2842)
Polycystic ovaries - urethral sphincter dysfunction (Orphanet:2795)
Prune belly syndrome (Orphanet:2970)
Reactive arthritis (Orphanet:29207)
Renal dysplasia - megalocystis - sirenomelia (Orphanet:1850)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Stevens-Johnson syndrome (Orphanet:36426)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Townes-Brocks syndrome (Orphanet:857)
Trisomy 17p (Orphanet:261290)
VACTERL/VATER association (Orphanet:887)
Williams syndrome (Orphanet:904)