Human Gene Set: HP_BRACHYCEPHALY


Standard name HP_BRACHYCEPHALY
Systematic name M34627
Brief description Brachycephaly
Full description or abstract An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. [https://orcid.org/0000-0002-0736-9199, PMID:19125436]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000248
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000248
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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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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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