Human Gene Set: HP_CERVICAL_C2_C3_VERTEBRAL_FUSION


Standard name HP_CERVICAL_C2_C3_VERTEBRAL_FUSION
Systematic name M36559
Brief description Cervical C2/C3 vertebral fusion
Full description or abstract Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0004602
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0004602
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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 2023.1.Hs: Updated to HPO Release 2023-01-27.

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