hypospadias

Summary
Synonym
  • familial hypospadias
Definition
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Super Class
physical disorder
External Links
Disease Ontology
DOID:10892
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying entries 11 - 20 of 31 in total
Gene ID Gene Symbol Description Source
1717 DHCR7 7-dehydrocholesterol reductase
3284 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
3293 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
6715 SRD5A1 steroid 5 alpha-reductase 1
6716 SRD5A2 steroid 5 alpha-reductase 2
8473 OGT O-linked N-acetylglucosamine (GlcNAc) transferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024