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"

10,911 rare diseases

Rare female infertility due to gonadal dysgenesis

Rare female infertility due to ovarian dysgenesis

ORPHA:399877

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare female infertility due to gonadotropic axis disorder · Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder

ORPHA:399831

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare female infertility due to gonadotropic axis disorder of genetic origin · Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

ORPHA:400011

Rare female infertility due to oocyte maturation defect

ORPHA:404469

Rare form of salmonellosis

ORPHA:795

Rare gastroenterologic disease

ORPHA:97935

Rare gastroesophageal disease

ORPHA:101936

Rare gastroesophageal tumor

ORPHA:180821

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 brainstem or cerebellar disorder with ophthalmic involvement as a major feature

ORPHA:522506

Rare genetic capillary malformation

ORPHA:459526

Rare genetic cardiac disease

ORPHA:98054

Rare genetic cause of hypertension

ORPHA:156629

Rare genetic coagulation disorder

ORPHA:183654

Rare genetic corneal disorder

ORPHA:522556

Rare genetic deafness

Rare genetic hearing loss

ORPHA:96210

Rare genetic developmental defect during embryogenesis

ORPHA:183530

Rare genetic diabetes mellitus

ORPHA:183625

Rare genetic disease

ORPHA:98053

Rare genetic disease with myoclonus as a major feature

ORPHA:307067

Rare genetic disorder involving multiple structures of the eye

ORPHA:522578

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 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 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 dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic endocrine disease

ORPHA:156638

Rare genetic epilepsy

ORPHA:183512

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic eyelid malposition disorder

ORPHA:522528

Rare genetic female infertility

ORPHA:400008

Rare genetic gastroenterological disease

ORPHA:165652

Rare genetic gynecological and obstetrical diseases

ORPHA:183731

Rare genetic headache

ORPHA:183509

Rare genetic hematologic disease

ORPHA:158300

Rare genetic hepatic disease

ORPHA:156601

Rare genetic hyperkinetic movement disorder

ORPHA:496916