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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
buphthalmos  
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. (DO)
Glaucoma 3, Primary Infantile, B  
hydrophthalmos +   
Primary Congenital Glaucoma 3, C 
Primary Congenital Glaucoma 3, D  
Primary Congenital Glaucoma 3, E  

Synonyms
Exact Synonyms: GLC3 ;   GLC3A ;   Glaucoma 3, Primary Congenital, A ;   simple buphthalmos
Narrow Synonyms: BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET ;   GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC ;   GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
Broad Synonyms: CYP1B1-RELATED DISORDER ;   congenital glaucoma
Primary IDs: MESH:C565547
Alternate IDs: OMIM:231300
Xrefs: ICD9CM:743.21
Definition Sources: https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"

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