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"

10,912 rare diseases

Cystic fibrosis

CF · Mucoviscidosis

ORPHA:586

Perioral myoclonia with absences

POMA

ORPHA:139426

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

ORPHA:ORPHA:636

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

ORPHA:752

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

ORPHA:324

Malignant melanoma of the mucosa

ORPHA:168999

Citrin deficiency

ORPHA:247582

Hereditary angioedema

Familial angioneurotic edema · HAE

ORPHA:91378

Wilson disease

Hepatolenticular degeneration

ORPHA:905

Cyanide poisoning

ORPHA:466670

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Primary immunodeficiency

ORPHA:101997

Exercise-induced malignant hyperthermia

Exertional heat stroke

ORPHA:466650

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

ORPHA:169799

Systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:536

Norrie disease

Atrophia bulborum hereditaria · Episkopi blindness

ORPHA:649

Rare hypoparathyroidism

ORPHA:181405

Lymphangioleiomyomatosis

LAM

ORPHA:538

O'Sullivan-McLeod syndrome

ORPHA:99965

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

ORPHA:1035

Composite lymphoma

Composite Hodgkin and non-Hodgkin lymphoma

ORPHA:168966

Isolated glycerol kinase deficiency

Hyperglycerolemia

ORPHA:408

Toxic dermatosis

ORPHA:293815

Startle epilepsy

ORPHA:166427

Huntington disease

Huntington chorea

ORPHA:399

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

ORPHA:379

AL amyloidosis

Light-chain amyloidosis

ORPHA:85443

Mikati-Najjar-Sahli syndrome

Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

ORPHA:2558

Carcinofibroma of the corpus uteri

ORPHA:213605

Elastoma

Juvenile elastoma without osteopoikilosis · Nevus elasticus

ORPHA:228254

Spontaneous intracranial hypotension

Spontaneous cerebrospinal fluid leak

ORPHA:443180

Cystinosis

Protein defect of cystin transport

ORPHA:213

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

ORPHA:365

Paroxysmal nocturnal hemoglobinuria

Marchiafava-Micheli disease · Marchiafava-Micheli syndrome

ORPHA:447

Kennedy disease

SBMA · X-linked BSMA

ORPHA:481

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma

ORPHA:168953

Rare cardiomyopathy

ORPHA:167848

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

ORPHA:606

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

ORPHA:699

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

ORPHA:369

Alpha-thalassemia

ORPHA:846

Marfan syndrome

MFS

ORPHA:558

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

ORPHA:512

Fragile X syndrome

FRAXA syndrome · FXS

ORPHA:908

Darier disease

Darier-White disease · Keratosis follicularis

ORPHA:218

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Transient hypogammaglobulinemia of infancy

ORPHA:169139

Botulism

ORPHA:1267