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"

40 matching diseasesClear search ×

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

ORPHA:307052

Genetic dermis disorder

ORPHA:183472

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

ORPHA:325690

Genetic epidermal disorder

ORPHA:183426

Genetic mixed dermis disorder

ORPHA:183481

OBSOLETE: Rare genetic choroidal disorder

ORPHA:522584

Psychogenic movement disorders

Psychogenic dystonia

ORPHA:71519

Rare choreic movement disorder

ORPHA:306715

Rare genetic bone development disorder

Rare genetic skeletal development disorder

ORPHA:404584

Rare genetic coagulation disorder

ORPHA:183654

Rare genetic corneal disorder

ORPHA:522556

Rare genetic disease

ORPHA:98053

Rare genetic disorder of the anterior segment of the eye

ORPHA:522538

Rare genetic disorder of the ocular adnexa

ORPHA:522524

Rare genetic disorder of the posterior segment of the eye

ORPHA:522570

Rare genetic disorder of the pupil

ORPHA:522568

Rare genetic disorder of the visual organs

ORPHA:522504

Rare genetic disorder with conjunctival involvement as a major feature

ORPHA:522542

Rare genetic disorder with corneal involvement as a major feature

ORPHA:522558

Rare genetic disorder with entropion

ORPHA:522530

Rare genetic disorder with strabismus

ORPHA:522518

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic eyelid malposition disorder

ORPHA:522528

Rare genetic hyperkinetic movement disorder

ORPHA:496916

Rare genetic macular disorder

ORPHA:522574

Rare genetic movement disorder

ORPHA:183521

Rare genetic neurological disorder

ORPHA:71859

Rare genetic ocular motility/alignment disorder

ORPHA:522516

Rare genetic odontal or periodontal disorder

ORPHA:420755

Rare genetic ophthalmic disorder with cortical involvement

ORPHA:522508

Rare genetic ophthalmic disorder with cranial nerve involvement

ORPHA:522510

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic palpebral disorder

ORPHA:522526

Rare genetic retinal disorder

ORPHA:522572

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic tremor disorder

ORPHA:307061

Rare hyperkinetic movement disorder

ORPHA:494457

Rare movement disorder

ORPHA:102003

Rare parkinsonian disorder

Rare hypokinetic movement disorder

ORPHA:68402

Rare paroxysmal movement disorder

ORPHA:306768