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"

61 matching diseasesClear search ×

Isolated retinal racemose hemangioma

RRH · Isolated retinal arteriovenous aneurysm 3

ORPHA:674924

Acquired aneurysmal subarachnoid hemorrhage

ORPHA:90065

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Shokeir syndrome

ORPHA:1008

Argentine hemorrhagic fever

Argentinian hemorrhagic fever · Junin hemorrhagic fever

ORPHA:319223

Arrhinia-choanal atresia-microphthalmia syndrome

ORPHA:1135

Bilateral massive adrenal hemorrhage

BMAH · Bilateral adrenal hemorrhage

ORPHA:319205

Bolivian hemorrhagic fever

Machupo hemorrhagic fever

ORPHA:319229

Brazilian hemorrhagic fever

Sabia hemorrhagic fever

ORPHA:319239

Chapare hemorrhagic fever

ORPHA:319244

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

ORPHA:103907

Chronic diarrhea with villous atrophy

ORPHA:1670

Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

ORPHA:314373

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency

ORPHA:477765

Congenital chloride diarrhea

ORPHA:53689

Congenital chronic diarrhea with protein-losing enteropathy

Congenital chronic diarrhea with exudative enteropathy

ORPHA:329242

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

ORPHA:103908

Crimean-Congo hemorrhagic fever

CCHF · Congo fever

ORPHA:99827

Diffuse alveolar hemorrhage

ORPHA:90060

Early-onset familial noncirrhotic portal hypertension

ORPHA:494348

Ebola hemorrhagic fever

EHF · Ebola fever

ORPHA:319218

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

ORPHA:363409

Genetic intractable diarrhea of infancy

ORPHA:363300

GNB5-related intellectual disability-cardiac arrhythmia syndrome

ORPHA:542306

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

ORPHA:178396

Hemorrhagic fever-renal syndrome

Hantavirosis · Hantavirus fever

ORPHA:340

Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease

ORPHA:436242

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

ORPHA:774

Hereditary North American Indian childhood cirrhosis

ORPHA:168583

Idiopathic copper-associated cirrhosis

Non-Wilsonian hepatic copper toxicosis of infancy and childhood

ORPHA:209919

Incomplete septal cirrhosis

Incomplete septal fibrosis

ORPHA:596941

Inherited arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy · ACM

ORPHA:247

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ALVC · Arrhythmogenic cardiomyopathy dominant-left variant

ORPHA:293888

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Arrhythmogenic cardiomyopathy dominant-right variant · Arrhythmogenic cardiomyopathy with right ventricular involvement

ORPHA:293910

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

ORPHA:293899

Intractable diarrhea of infancy

IDI

ORPHA:73014

Intractable diarrhea-choanal atresia-eye anomalies syndrome

ORPHA:137622

Isolated arrhinia

Isolated nose agenesis

ORPHA:1134

Lujo hemorrhagic fever

Zambian hemorrhagic fever

ORPHA:319213

Marburg hemorrhagic fever

Green monkey disease · MHF

ORPHA:99826

Non-malignant and non-cirrhotic portal vein thrombosis

Non-cirrhotic and non-tumoral portal vein thrombosis · Non-malignant non-cirrhotic PVT

ORPHA:854

OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

OBSOLETE: Stoll-Lévy-Francfort syndrome · OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome

ORPHA:2878

OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage

ORPHA:95614

Omsk hemorrhagic fever

ORPHA:319266

Papular elastorrhexis

ORPHA:228264

Polyrrhinia

Double nose · Polyrhinia

ORPHA:141091

Rare hemorrhagic disorder

Rare bleeding disorder

ORPHA:248308