Human Gene Set: HP_DIAGNOSTIC_BEHAVIORAL_PHENOTYPE


Standard name HP_DIAGNOSTIC_BEHAVIORAL_PHENOTYPE
Systematic name M49988
Brief description Diagnostic behavioral phenotype
Full description or abstract The Human Phenotype Ontology provides terms to describe specific phenotypic abnormalities rather than disease diagnoses. Nevertheless, it is common for descriptions such as 'Autism' to be used to describe individuals affected with Mendelian forms of neurodevelopmental disease and many other conditions. If possible, we recommend annotation using specific terms in other branchs of the Atypical behavior subontology, but if this is not possible, then terms from this branch may be used. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0025783
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0025783
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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)
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Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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