Human Gene Set: HP_STAPES_ANKYLOSIS


Standard name HP_STAPES_ANKYLOSIS
Systematic name M41219
Brief description Stapes ankylosis
Full description or abstract Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). [https://orcid.org/0000-0002-0736-9199, PMID:12089654]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000381
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000381
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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
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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