Human Gene Set: HP_SPRENGEL_ANOMALY


Standard name HP_SPRENGEL_ANOMALY
Systematic name M35015
Brief description Sprengel anomaly
Full description or abstract A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000912
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000912
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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
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 54 genes
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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