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"

73 matching diseasesClear search ×

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Genetic dermis disorder

ORPHA:183472

Genetic dermis elastic tissue disorder

ORPHA:228215

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

Genetic primary orthostatic disorder

ORPHA:521232

Genetic skin vascular disorder

ORPHA:183478

OBSOLETE: Rare genetic choroidal disorder

ORPHA:522584

Other genetic dermis disorder

ORPHA:477808

Rare choroidal disorder

ORPHA:519309

Rare corneal disorder

ORPHA:519282

Rare dystonia

Rare dystonic disorder

ORPHA:68363

Rare genetic adrenal disease

ORPHA:183637

Rare genetic autonomic nervous system disorder

ORPHA:434786

Rare genetic bone development disorder

Rare genetic skeletal development disorder

ORPHA:404584

Rare genetic bone disease

ORPHA:183524

Rare genetic cardiac disease

ORPHA:98054

Rare genetic coagulation disorder

ORPHA:183654

Rare genetic corneal disorder

ORPHA:522556

Rare genetic deafness

Rare genetic hearing loss

ORPHA:96210

Rare genetic disease

ORPHA:98053

Rare genetic disorder of the anterior segment of the eye

ORPHA:522538

Rare genetic disorder of the lacrimal apparatus

ORPHA:522532

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 entropion

ORPHA:522530

Rare genetic disorder with lens opacification

ORPHA:522546

Rare genetic disorder with obstructive azoospermia

Rare genetic disorder due to impaired sperm transport

ORPHA:400003

Rare genetic disorder with strabismus

ORPHA:522518

Rare genetic endocrine disease

ORPHA:156638

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic eyelid malposition disorder

ORPHA:522528

Rare genetic hematologic disease

ORPHA:158300

Rare genetic hepatic disease

ORPHA:156601

Rare genetic hyperkinetic movement disorder

ORPHA:496916

Rare genetic immune disease

ORPHA:183770

Rare genetic inflammatory/autoimmune corneal disorder

ORPHA:522566

Rare genetic macular disorder

ORPHA:522574

Rare genetic medullar disease

ORPHA:183515

Rare genetic movement disorder

ORPHA:183521

Rare genetic neurological disorder

ORPHA:71859

Rare genetic nevus

ORPHA:622914

Rare genetic ocular motility/alignment disorder

ORPHA:522516

Rare genetic odontal or periodontal disorder

ORPHA:420755

Rare genetic odontologic disease

ORPHA:77830