Rare Disease Library

Digenic hemochromatosis

Digestive tract malformation

Digital anomalies-intellectual disability-short stature syndrome

Digital extensor muscle aplasia-polyneuropathy

Hamanishi-Ueba-Tsuji syndrome · Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy

Digitalis poisoning

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Dihydropyrimidine dehydrogenase deficiency

Familial pyrimidinemia

Dihydropyrimidinuria

Dihydropyrimidinase deficiency

Dilated cardiomyopathy

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

Dincsoy-Salih-Patel syndrome

Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome

Diphallia

Diphtheria

Diphyllobothriasis

Bothriocephalosis

Diprosopus

Diprosopia · Craniofacial duplication

Dirofilariasis

Discoid lupus erythematosus

Discrete fibromuscular subaortic stenosis

Discrete fixed membranous subaortic stenosis

Discrete papular lichen myxedematosus

Disease associated with non-acquired combined pituitary hormone deficiency

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

Disease with punctate palmoplantar keratoderma as a major feature

Disease with punctate palmoplantar hyperkeratosis as a major feature

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Disorder of amino acid absorption and transport

Disorder of amino acid and other organic acid metabolism

Disorder of asparagine metabolism

Disorder of beta and omega amino acid metabolism

Disorder of bile acid synthesis

Disorder of bilirubin metabolism and excretion

Disorder of biogenic amine metabolism and transport

Disorder of branched-chain amino acid metabolism

Disorder of carbohydrate absorption and transport

Disorder of carbohydrate metabolism

Disorder of carnitine cycle and carnitine transport

Disorder of catecholamine synthesis

Disorder of cobalamin metabolism and transport

Disorder of copper metabolism

Disorder of energy metabolism

Disorder of fatty acid oxidation and ketogenesis

Disorder of fatty acid oxidation and ketone body metabolism

Disorder of folate metabolism and transport

Disorder of fructose metabolism

Disorder of fucoglycosan synthesis