loading...| Preferred Name |
hypospadias |
|
| Synonyms |
familial hypospadias hypospadias (disease) hypospadias hypospadias familial |
|
| Definitions |
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. 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0004209 |
|
| database_cross_reference |
MeSH:D007021 ICD9:752.61 MedDRA:10021093 SNOMEDCT:416010008 NCIt:C40341 DOID:10892 HP:0000047 ICD10:Q54 MESH:D007021 Orphanet:440 OMIMPS:300633 NCIT:C40341 MONDO:0005345 SCTID:416010008 UMLS:C0848558 |
|
| definition |
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. 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. |
|
| exactMatch |
http://identifiers.org/snomedct/416010008 http://identifiers.org/mesh/D007021 http://linkedlifedata.com/resource/umls/id/C0848558 https://omim.org/phenotypicSeries/PS300633 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
familial hypospadias hypospadias (disease) hypospadias |
|
| has_related_synonym |
hypospadias familial |
|
| IAO_0000233 | ||
| IAO_0000589 |
hypospadias (disease) |
|
| id |
EFO:0004209 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_morphological_anomaly |
|
| label |
hypospadias |
|
| notation |
EFO:0004209 |
|
| prefLabel |
hypospadias |
|
| term editor |
Dani Welter |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 |