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 ×

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

ORPHA:2728

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

ORPHA:293707

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

ORPHA:199354

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

ORPHA:1355