Human Gene Set: HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND


Standard name HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND
Systematic name M36778
Brief description Abnormal epiphysis morphology of the phalanges of the hand
Full description or abstract Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0005920
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0005920
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 41 genes
Gene families ? Categorize these 41 genes by gene family
Show members (show 41 source identifiers mapped to 41 genes)
Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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