Human Gene Set: HP_EPISPADIAS


Standard name HP_EPISPADIAS
Systematic name M34497
Brief description Epispadias
Full description or abstract Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. [https://orcid.org/0000-0002-0736-9199, PMID:23650202, PMID:33085327]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000039
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000039
Filtered by similarity ?
Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 29 genes
Gene families ? Categorize these 29 genes by gene family
Show members (show 29 source identifiers mapped to 29 genes)
Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

See MSigDB license terms here. Please note that certain gene sets have special access terms.