OBO ID: DOID:11211
Term Name: buphthalmos Search Ontology:
Synonyms:
  • primary congenital glaucoma 3A
  • simple buphthalmos
Definition: A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. https://www.ncbi.nlm.nih.gov/books/NBK1135/
References:
  • ICD9CM:743.21
  • OMIM:231300
  • SNOMEDCT_US_2023_03_01:204116009
  • UMLS_CUI:C0311251
Ontology: Human Disease   ( DOID:11211 )
Relationships
is a type of:
OTHER buphthalmos PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP1B1 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset 231300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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