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"

5 matching diseasesClear search ×

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

ORPHA:162

Anterior segment developmental anomaly

Anterior segment dysgenesis

ORPHA:88632

Autosomal recessive anterior segment dysgenesis

ORPHA:519388

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

ORPHA:300313

OBSOLETE: Congenital cataract-ichthyosis syndrome

ORPHA:1376