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

DNAJB6-related limb-girdle muscular dystrophy D1

ORPHA:34516Disease
Autosomal dominant

DPAGT1-CDG

ORPHA:86309Disease
Autosomal recessive

DPM1-CDG

ORPHA:79322Disease
Autosomal recessive

DPM3-CDG

ORPHA:263494Disease
Autosomal recessive

Danon disease

ORPHA:34587Disease
X-linked dominant

Darier disease

ORPHA:218Disease
Autosomal dominant

De Barsy syndrome

ORPHA:2962Disease
Autosomal recessive

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

ORPHA:254898Disease
Autosomal recessive

Deafness-small bowel diverticulosis-neuropathy syndrome

ORPHA:3217Disease

Deep dermatophytosis

ORPHA:397587Disease
Not applicable

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

ORPHA:293978Disease
Autosomal dominant

Deficiency of adenosine deaminase 2

ORPHA:404553Disease
Autosomal recessive

Dehydrated hereditary stomatocytosis

ORPHA:3202Disease
Autosomal dominant

Dejerine-Sottas syndrome

ORPHA:64748Disease
Autosomal dominant, Autosomal recessive, Not applicable

Delayed encephalopathy due to carbon monoxide poisoning

ORPHA:306686Disease

Delta-beta-thalassemia

ORPHA:231237Disease
Autosomal recessive

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

ORPHA:219Disease
Autosomal recessive

Dementia pugilistica

ORPHA:97353Disease

Dengue fever

ORPHA:99828Disease
Not applicable

Dent disease

ORPHA:1652Disease
X-linked recessive

Dentatorubral pallidoluysian atrophy

ORPHA:101Disease
Autosomal dominant

Dentin dysplasia

ORPHA:1653Disease
Autosomal dominant

Dentin dysplasia-sclerotic bones syndrome

ORPHA:99792Disease

Dentinogenesis imperfecta

ORPHA:49042Disease
Autosomal dominant