DiseaseID 17038
尿道下裂
disease
HPO2016_07_04:Location of the urethral opening on the inferior aspect of the penis. [HPO:curators]|HPO2016_07_04:Displacement of the urethral opening on the ventral (inferior) surface of the penis. [HPO:curators]
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17038
- Core Entity Id
- 75204
- Source Entity Count
- 1
- Preferred Name
- Hypospadias
- Name Cn
- 尿道下裂
- Name Pinyin
- Niao Dao Xia Lie
- Name En
- Hypospadias
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- physical disorder
- Hpo Class
- Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Abnormality of the genitourinary system
- Do Class Name
- physical disorder
- Disease Definition
- HPO2016_07_04:Location of the urethral opening on the inferior aspect of the penis. [HPO:curators]|HPO2016_07_04:Displacement of the urethral opening on the ventral (inferior) surface of the penis. [HPO:curators]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hypospadias
Role
preferred
Name
Familial Hypospadias
Role
preferred
Name
Hypospadias 1, X-Linked
Role
preferred
Name
Hypospadias 2, X-Linked
Role
preferred
Name
Penile Hypospadias
Role
preferred
Name
Hypospadias, Balanic
Role
preferred
Name
Hypospadias, Penoscrotal
Role
preferred
Name
Glandular Hypospadias
Role
alias
Name
HYSP1
Role
alias
Name
HYSP2
Role
alias
Name
Hypospadia
Role
alias
Name
Hypospadias, Penile
Role
alias
Name
Hypospadias, Unspecified
Role
alias
Name
Penoscrotal Hypospadias
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000047HP:0000807HP:0000808HP:0003244
Herb
HBDIS009511HBDIS009513HBDIS011789HBDIS014692HBDIS019539HBDIS029149
Me Sh
D007021
Omim
300633300758
Umls
C0848558C1691215C2677879C2678098
Icd10
Q54Q54.0Q54.1Q54.2Q54.8Q54.9
Sym Map
SMDE01741SMDE01853SMDE04422SMDE09721SMDE12032
Do Class
DOID:0080015
Dis Ge Net
C0452147C0452168C0848558C1691215C2677879C2678098
Orphanet
440
Umls Sty
T019T047
Hpo Class
HP:0000119
Me Sh Class
C12C13C16
Tcmbank Disease
11256151301633819098280677110
Itcmdb Generated
ITX-DISEASE-2389106CE096ITX-DISEASE-FEE6B84B9654
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
physical disorder
Disease Type
disease
Hpo Class Name
Abnormality of the genitourinary system
Do Disease Class
physical disorder
Hpo Disease Class
Abnormality of the genitourinary system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
HPO2016_07_04:Location of the urethral opening on the inferior aspect of the penis. [HPO:curators]|HPO2016_07_04:Displacement of the urethral opening on the ventral (inferior) surface of the penis. [HPO:curators]Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.NCI2016_NICHD_1602D:A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the ventrum of the penis, scrotum, or perineum.|NCI2016_NCI-GLOSS_1602D:A birth defect in which the opening of the urethra (the tube through which urine leaves the body) is not in its normal place. In males with hypospadias, the urethra opens on the underside of the penis or between the anus and the scrotum. In females with hypospadias, it opens into the vagina. Hypospadias is much more common in males than in females, and can be corrected by surgery. Children with hypospadias have an increased risk of developing Wilms tumor (a type of kidney cancer).|NCI2016_CDISC_1602D:Urethra opening on the underside of the penis or on the perineum. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities.|MSH2017_2016_08_12:A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome