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"

22 matching diseasesClear search ×

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

ORPHA:300345

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:93552

Systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:536

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy

ORPHA:98784

Slender bone dysplasia

ORPHA:93440

African trypanosomiasis

Sleeping sickness

ORPHA:3385

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Xia-Gibbs syndrome

ORPHA:412069

ANK3-related intellectual disability-sleep disturbance syndrome

ORPHA:356996

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

ORPHA:420789

Benign infantile focal epilepsy with midline spikes and waves during sleep

BIMSE

ORPHA:166308

Bosley-Salih-Alorainy syndrome

ORPHA:69737

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

ORPHA:725

Familial advanced sleep-phase syndrome

FASPS

ORPHA:164736

Gerstmann-Straussler-Scheinker syndrome

Subacute spongiform encephalopathy, Gerstmann-Straussler type

ORPHA:356

Glaucoma-sleep apnea syndrome

ORPHA:2085

Non-24-hour sleep-wake syndrome

Hypernychthemeral syndrome

ORPHA:73267

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

ORPHA:600663

OBSOLETE: Idiopathic hypersomnia with long sleep time

ORPHA:228315

OBSOLETE: Idiopathic hypersomnia without long sleep time

ORPHA:228318

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with post-MMR vaccine viral infection

ORPHA:431166

Rare sleep disorder

ORPHA:68354

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

ORPHA:3204