Human Gene Set: HP_SKELETAL_DYSPLASIA


Standard name HP_SKELETAL_DYSPLASIA
Systematic name M35940
Brief description Skeletal dysplasia
Full description or abstract A general term describing features characterized by abnormal development of bones and connective tissues. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002652
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002652
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 186 genes
Gene families ? Categorize these 186 genes by gene family
Show members (show 186 source identifiers mapped to 186 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.