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"

54 matching diseasesClear search ×

Self-limited epilepsy with autonomic seizures

Benign childhood occipital epilepsy, Panayiotopoulos type · SeLEAS

ORPHA:98815

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

ORPHA:314655

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

ORPHA:1060

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Pettigrew Syndrome

ORPHA:1568

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

ORPHA:3052

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424