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

Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome

Stoelinga-de Koomen-Davis syndrome

ORPHA:2972

Non-familial dilated cardiomyopathy

ORPHA:217629

Non-familial hypertrophic cardiomyopathy

ORPHA:217598

Non-familial rare disease with dilated cardiomyopathy

ORPHA:324767

Non-familial restrictive cardiomyopathy

ORPHA:217720

Non-fibrotic hypersensitivity pneumonitis

ORPHA:686462

Non-functioning neuroendocrine tumor of pancreas

Non-functioning pancreatic neuroendocrine tumor · Non-functioning well-differentiated neuroendocrine neoplasm of pancreas

ORPHA:506075

Non-functioning paraganglioma

Non-secreting paraganglioma

ORPHA:94080

Non-functioning pituitary adenoma

NFPA

ORPHA:91349

Non-genetic cardiac rhythm disease

ORPHA:218439

Non-genetic central precocious puberty in male

Non-genetic central precocious puberty in boy · Non-genetic CPP in male

ORPHA:650102

Non-genetic systemic disease with glomerulopathy as a major feature

ORPHA:567558

Non-hereditary congenital primary lymphedema

ORPHA:79450

Non-hereditary degenerative ataxia

ORPHA:247239

Non-hereditary late-onset primary lymphedema

Meige-like disease

ORPHA:90185

Non-hereditary retinoblastoma

ORPHA:357034

Non-HFE-related hemochromatosis

ORPHA:648569

Non-histaminic angioedema

Angioneurotic edema · Bradykinine-induced angioedema

ORPHA:658

Non-Hodgkin lymphoma

NHL

ORPHA:547

Non-hypoproteinemic hypertrophic gastropathy

Hypertrophic gastropathy without hypoproteinemia

ORPHA:329883

Non-immune hydrops fetalis

Non-immune HF · Non-immune fetal edema

ORPHA:363999

Non-infectious anterior uveitis

Non-infectious iridocyclitis

ORPHA:306648

Non-infectious posterior uveitis

Non-infectious choroiditis

ORPHA:90061

Non-inflammatory vasculopathy

ORPHA:496924

Non-insulinoma pancreatogenous hypoglycemia syndrome

NIPHS

ORPHA:276608

Non-involuting congenital hemangioma

NICH

ORPHA:141179

Non-Langerhans cell histiocytosis

ORPHA:157987

Non-malignant and non-cirrhotic portal vein thrombosis

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

ORPHA:854

Non-paraneoplastic sensory ganglionopathy

Non-paraneoplastic sensory neuronopathy

ORPHA:208989

Non-polyposis Turcot syndrome

ORPHA:99817

Non-progressive cerebellar ataxia with intellectual disability

ORPHA:314647

Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

ORPHA:436271

Non-recovering obstetric brachial plexus lesion

Chronic obstetric brachial plexus injury · Chronic obstetric brachial plexus palsy

ORPHA:439202

Non-rhizomelic chondrodysplasia punctata

ORPHA:176

Non-saccular limited dorsal myeloschisis

Non-saccular LDM · Flat LDM

ORPHA:645343

Non-seminomatous germ cell tumor of testis

Non-dysgerminomatous germ cell tumor of testis · Testicular non seminomatous germ cell tumor

ORPHA:363494

Non-severe combined immunodeficiency

Non-SCID

ORPHA:480549

Non-specific autoimmune brainstem encephalitis with characteristic antibodies

Non-specific autoimmune rhombencephalitis with characteristic antibodies · Non-specific autoimmune rhomboencephalitis with characteristic antibodies

ORPHA:624199

Non-specific autoimmune brainstem encephalitis without characteristic antibodies

Non-specific autoimmune rhombencephalitis without characteristic antibodies · Non-specific autoimmune rhomboencephalitis without characteristic antibodies

ORPHA:624216

Non-specific autoimmune cerebellar ataxia with characteristic antibodies

Non-specific autoimmune CA with characteristic antibodies

ORPHA:624259

Non-specific autoimmune cerebellar ataxia without characteristic antibodies

Non-specific autoimmune CA without characteristic antibodies · Primary Autoimmune Cerebellar Ataxia

ORPHA:624268

Non-specific autoimmune supratentorial encephalitis with characteristic antibodies

Non-specific supratentorial AE with characteristic antibodies

ORPHA:624166

Non-specific autoimmune supratentorial encephalitis without characteristic antibodies

Non-specific supratentorial AE without characteristic antibodies

ORPHA:624178

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

ORPHA:442835

Non-specific interstitial pneumonia

NSIP · Non-specific idiopathic interstitial pneumonia

ORPHA:91364

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

ORPHA:528084

Non-spherocytic hemolytic anemia due to hexokinase deficiency

ORPHA:90031

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

ORPHA:229717