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"

7 matching diseasesClear search ×

SYNGAP1-related developmental and epileptic encephalopathy

SYNGAP1-related DEE

ORPHA:544254

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

ORPHA:319332

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

ORPHA:228410

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

ORPHA:163681

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

ORPHA:659609

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

ORPHA:182050

Rauch-Steindl syndrome

NSD2-related syndrome

ORPHA:659642