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"

38 matching diseasesClear search ×

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

ORPHA:371195

Filamin-related bone disorder

Bone filaminopathy

ORPHA:93425

Rare bone development disorder

Rare skeletal development disorder

ORPHA:139012

Rare bone disease

ORPHA:93419

Rare bone tumor

ORPHA:68411

Rare choroidal disorder

ORPHA:519309

Rare corneal disorder

ORPHA:519282

Rare disorder due to poisoning

ORPHA:556508

Rare disorder of the pupil

ORPHA:519286

Rare disorder with ectropion

ORPHA:519268

Rare disorder with entropion

ORPHA:519270

Rare disorder with ptosis

ORPHA:98578

Rare disorder with strabismus

ORPHA:98681

Rare dystonia

Rare dystonic disorder

ORPHA:68363

Rare eyebrow/eyelash disorder

Rare eyebrow/eyelashes anomaly

ORPHA:98594

Rare genetic bone development disorder

Rare genetic skeletal development disorder

ORPHA:404584

Rare genetic bone disease

ORPHA:183524

Rare genetic corneal disorder

ORPHA:522556

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic macular disorder

ORPHA:522574

Rare genetic retinal disorder

ORPHA:522572

Rare genetic tremor disorder

ORPHA:307061

Rare hemorrhagic disorder

Rare bleeding disorder

ORPHA:248308

Rare macular disorder

ORPHA:519313

Rare movement disorder

ORPHA:102003

Rare odontal or periodontal disorder

ORPHA:164001

Rare ophthalmic disorder

ORPHA:97966

Rare optic nerve disorder

ORPHA:519351

Rare palpebral disorder

ORPHA:98560

Rare parkinsonian disorder

Rare hypokinetic movement disorder

ORPHA:68402

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778

Rare retinal disorder

ORPHA:519315

Rare scleral disorder

ORPHA:519298

Rare sleep disorder

ORPHA:68354

Rare tremor disorder

ORPHA:306712

Rare trochlear nerve disorder

ORPHA:519353

Sulfation-related bone disorder

ORPHA:93423

TRPV4-related bone disorder

ORPHA:364820