Human Gene Set: HP_OSTEOPETROSIS


Standard name HP_OSTEOPETROSIS
Systematic name M37729
Brief description Osteopetrosis
Full description or abstract Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011002
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011002
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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  
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GTEx compendium
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NCI-60 cell lines (National Cancer Institute)

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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 19 genes
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Show members (show 19 source identifiers mapped to 19 genes)
Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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