Human Gene Set: HP_BLEPHAROCHALASIS


Standard name HP_BLEPHAROCHALASIS
Systematic name M41397
Brief description Blepharochalasis
Full description or abstract Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. [PMID:3207663]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0010749
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External links https://hpo.jax.org/app/browse/term/HP:0010749
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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 2026.1.Hs: Updated to HPO Release 2026-01-08.


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