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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Oculoectodermal syndrome
Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome
Aplasia cutis congenita
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Bronspiegel-Zelnick syndrome
Aplasia cutis-myopia syndrome
Gershoni-Baruch-Leibo syndrome
Didymosis aplasticosebacea
Aplasia cutis congenita-nevus sebaceus syndrome
Focal facial dermal dysplasia type I
Bitemporal aplasia cutis congenita · Brauer syndrome
SCALP syndrome
Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome