Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV · OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations

ORPHA:261579

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

ORPHA:126

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

ORPHA:261559

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation

ORPHA:261572