loading...| Preferred Name | hypospadias | |
| Synonyms |
hypospadias familial hypospadias hypospadias (disease) familial hypospadias |
|
| Definitions |
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. 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0004209 |
|
| database_cross_reference |
MeSH:D007021 MONDO:0005345 ICD9:752.61 MEDGEN:163083 icd11.foundation:810247271 MedDRA:10021093 SCTID:416010008 NCIT:C40341 OMIMPS:300633 SNOMEDCT:416010008 Orphanet:440 UMLS:C0848558 NCIt:C40341 MESH:D007021 DOID:10892 HP:0000047 ICD10:Q54 |
|
| definition |
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. 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. |
|
| gwas_trait |
true |
|
| has_exact_synonym |
hypospadias hypospadias (disease) familial hypospadias |
|
| has_related_synonym |
hypospadias familial |
|
| IAO_0000233 | ||
| IAO_0000589 |
hypospadias (disease) |
|
| id |
EFO:0004209 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly |
|
| label |
hypospadias |
|
| notation |
EFO:0004209 |
|
| preferred label |
hypospadias |
|
| prefLabel |
hypospadias |
|
| skos_exactMatch |
http://identifiers.org/snomedct/416010008 http://identifiers.org/mesh/D007021 http://purl.obolibrary.org/obo/EFO_0004209 http://linkedlifedata.com/resource/umls/id/C0848558 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/810247271 https://omim.org/phenotypicSeries/PS300633 http://purl.obolibrary.org/obo/NCIT_C40341 |
|
| term editor |
Dani Welter |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 |