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"

9 matching diseasesClear search ×

Cystic fibrosis

CF · Mucoviscidosis

ORPHA:586

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome

ORPHA:2575

Cardiofaciocutaneous syndrome

CFC syndrome

ORPHA:1340

Congenital fiber-type disproportion myopathy

CFTDM

ORPHA:2020

Craniofrontonasal dysplasia

CFND · CFNS

ORPHA:1520

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

CTCF-related neurodevelopmental disorder

ORPHA:363611

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

ORPHA:2268

OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly

ORPHA:98113