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"

23 matching diseasesClear search ×

Sheehan syndrome

ORPHA:91355

Sheldon-Hall syndrome

SSH · DA2B

ORPHA:1147

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy

ORPHA:98784

Asherman syndrome

ORPHA:137686

Benign peripheral nerve sheath tumor

BPNST

ORPHA:252131

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

ORPHA:2053

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Malignant peripheral nerve sheath tumor with perineurial differentiation

Malignant perineurioma

ORPHA:252128

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

ORPHA:98919

OBSOLETE: Chondrodysplasia punctata, Sheffield type

ORPHA:79344

OBSOLETE: Congenital absence of the eyebrow/eyelashes

ORPHA:98598

OBSOLETE: Eyebrow/eyelashes distichiasis

ORPHA:98600

OBSOLETE: Eyebrow/eyelashes hypertrichosis

ORPHA:98595

OBSOLETE: Eyebrow/eyelashes pigmentation anomaly

ORPHA:98601

OBSOLETE: Eyebrow/eyelashes structural anomaly

ORPHA:98599

OBSOLETE: Eyelashes hypertrophy

OBSOLETE: Eyelashes polytrichia · OBSOLETE: Eyelashes trichomegalia

ORPHA:98597

Retinal ciliopathy due to mutation in Usher gene

ORPHA:156177

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

ORPHA:2832

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

Usher syndrome type 1

USH1

ORPHA:231169

Usher syndrome type 2

USH2

ORPHA:231178

Usher syndrome type 3

USH3

ORPHA:231183

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

ORPHA:383