MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Arginine vasopressin deficiency

ORPHA:178029Disease
Autosomal dominant, Autosomal recessive, X-linked dominant

Arginine vasopressin resistance

ORPHA:223Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

ORPHA:3145Disease

Argininemia

ORPHA:90Disease
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Disease
Autosomal recessive

Argyria

ORPHA:60014Disease
Not applicable

Arnold-Chiari malformation type I

ORPHA:268882Morph.
Unknown

Aromatase deficiency

ORPHA:91Disease
Autosomal recessive

Aromatase excess syndrome

ORPHA:178345Disease
Autosomal dominant

Aromatic L-amino acid decarboxylase deficiency

ORPHA:35708Disease
Autosomal recessive

Arterial dissection-lentiginosis syndrome

ORPHA:1682Malform.
Unknown

Arterial tortuosity syndrome

ORPHA:3342Malform.
Autosomal recessive

Arthrochalasia Ehlers-Danlos syndrome

ORPHA:1899Disease
Autosomal dominant

Arthrogryposis multiplex congenita

ORPHA:1037Clin. grp.
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Arthrogryposis multiplex congenita-whistling face syndrome

ORPHA:1150Malform.
Autosomal recessive

Arthrogryposis-anterior horn cell disease syndrome

ORPHA:53696Malform.
Autosomal recessive

Arthrogryposis-ectodermal dysplasia syndrome

ORPHA:3200Malform.
Unknown

Arthrogryposis-hyperkeratosis syndrome, lethal form

ORPHA:1485Malform.
Unknown

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

ORPHA:1144Malform.
Unknown

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

ORPHA:1154Malform.
Autosomal dominant, Autosomal recessive

Arthrogryposis-renal dysfunction-cholestasis syndrome

ORPHA:2697Malform.
Autosomal recessive

Arthrogryposis-severe scoliosis syndrome

ORPHA:65720Malform.

Asbestos intoxication

ORPHA:2302Disease

Ascher syndrome

ORPHA:1253Malform.
Not applicable