Human Gene Set: HP_ABNORMAL_CALVARIA_MORPHOLOGY


Standard name HP_ABNORMAL_CALVARIA_MORPHOLOGY
Systematic name M35962
Brief description Abnormal calvaria morphology
Full description or abstract Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002683
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002683
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 993 genes
Gene families ? Categorize these 993 genes by gene family
Show members (show 994 source identifiers mapped to 993 genes)
Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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