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

Isolated follicle stimulating hormone deficiency

ORPHA:52901Disease
Autosomal recessive

Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Disease
Autosomal recessive

Isolated glycerol kinase deficiency

ORPHA:408Disease
X-linked recessive

Isolated hyperchlorhidrosis

ORPHA:542657Disease
Autosomal recessive

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084Disease
Unknown

Isolated melanotic schwannoma

ORPHA:590539Disease

Isolated mesenteric vein thrombosis

ORPHA:583861Disease

Isolated micronodular adrenocortical disease

ORPHA:647782Disease

Isolated neonatal sclerosing cholangitis

ORPHA:480556Disease
Autosomal recessive

Isolated osteopoikilosis

ORPHA:166119Disease
Autosomal dominant

Isolated permanent neonatal diabetes mellitus

ORPHA:99885Disease
Autosomal dominant, Autosomal recessive

Isolated primary pigmented nodular adrenocortical disease

ORPHA:647772Disease

Isolated pulmonary capillaritis

ORPHA:264691Disease
Not applicable

Isolated sedoheptulokinase deficiency

ORPHA:440713Disease
Autosomal recessive

Isolated splenic vein thrombosis

ORPHA:583856Disease

Isolated succinate-CoQ reductase deficiency

ORPHA:3208Disease
Autosomal recessive

Isolated thyroid-stimulating hormone deficiency

ORPHA:90674Disease
Autosomal recessive

Isolated thyrotropin-releasing hormone deficiency

ORPHA:238670Disease
Unknown

Isosporiasis

ORPHA:472Disease
Not applicable

Isovaleric acidemia

ORPHA:33Disease
Autosomal recessive

Jansen-de Vries syndrome

ORPHA:653767Disease
Autosomal dominant

Japanese encephalitis

ORPHA:79139Disease
Not applicable

Jervell and Lange-Nielsen syndrome

ORPHA:90647Disease
Autosomal recessive

Jessner lymphocytic infiltration of the skin

ORPHA:33314Disease
Not applicable