Human Gene Set: HP_EURYBLEPHARON


Standard name HP_EURYBLEPHARON
Systematic name M38216
Brief description Euryblepharon
Full description or abstract Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. [https://orcid.org/0000-0002-0736-9199, PMID:15249382, PMID:15530943, PMID:24719364]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0012905
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0012905
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 9 genes
Gene families ? Categorize these 9 genes by gene family
Show members (show 9 source identifiers mapped to 9 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.