MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

ORPHA:276598Disease
Autosomal recessive

Dicarboxylic aminoaciduria

ORPHA:2195Disease
Autosomal recessive

Didymosis aplasticosebacea

ORPHA:370046Disease
Not applicable

Diencephalic syndrome

ORPHA:1672Disease
Not applicable

Dietary iron overload disease

ORPHA:139507Disease
Not applicable

Difference of sex development-intellectual disability syndrome

ORPHA:2983Disease
Unknown

Differentiated thyroid carcinoma

ORPHA:146Disease
Not applicable

Diffuse astrocytoma

ORPHA:251595Disease

Diffuse cutaneous mastocytosis

ORPHA:79456Disease
Not applicable

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

ORPHA:617916Disease

Diffuse intrinsic pontine glioma

ORPHA:497188Disease

Diffuse large B-cell lymphoma of the central nervous system

ORPHA:300849Disease
Multigenic/multifactorial, Not applicable

Diffuse palmoplantar keratoderma with painful fissures

ORPHA:369999Disease
Autosomal dominant

Diffuse palmoplantar keratoderma, Bothnian type

ORPHA:2337Disease
Autosomal dominant

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

ORPHA:86918Disease
Autosomal dominant

Diffuse panbronchiolitis

ORPHA:171700Disease
Multigenic/multifactorial

Digenic hemochromatosis

ORPHA:648581Disease

Dihydropyrimidine dehydrogenase deficiency

ORPHA:1675Disease
Autosomal recessive

Dihydropyrimidinuria

ORPHA:38874Disease
Autosomal recessive

Dilated cardiomyopathy with ataxia

ORPHA:66634Disease
Autosomal recessive

Dimethylglycine dehydrogenase deficiency

ORPHA:243343Disease
Autosomal recessive

Diphtheria

ORPHA:1679Disease

Diphyllobothriasis

ORPHA:128Disease
Not applicable

Dirofilariasis

ORPHA:166291Disease
Not applicable