MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Arginine vasopressin deficiency

ORPHA:178029Kr.
Autosomal dominant, Autosomal recessive, X-linked dominant

Arginine vasopressin resistance

ORPHA:223Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

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

ORPHA:3145Kr.

Argininemia

ORPHA:90Kr.
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Kr.
Autosomal recessive

Argyria

ORPHA:60014Kr.
Not applicable

Arnold-Chiari malformation type I

ORPHA:268882Morph.
Unknown

Aromatase deficiency

ORPHA:91Kr.
Autosomal recessive

Aromatase excess syndrome

ORPHA:178345Kr.
Autosomal dominant

Aromatic L-amino acid decarboxylase deficiency

ORPHA:35708Kr.
Autosomal recessive

Arterial dissection-lentiginosis syndrome

ORPHA:1682Malf.
Unknown

Arterial tortuosity syndrome

ORPHA:3342Malf.
Autosomal recessive

Arthrochalasia Ehlers-Danlos syndrome

ORPHA:1899Kr.
Autosomal dominant

Arthrogryposis multiplex congenita

ORPHA:1037Kl. gruppe
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Arthrogryposis multiplex congenita-whistling face syndrome

ORPHA:1150Malf.
Autosomal recessive

Arthrogryposis-anterior horn cell disease syndrome

ORPHA:53696Malf.
Autosomal recessive

Arthrogryposis-ectodermal dysplasia syndrome

ORPHA:3200Malf.
Unknown

Arthrogryposis-hyperkeratosis syndrome, lethal form

ORPHA:1485Malf.
Unknown

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

ORPHA:1144Malf.
Unknown

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

ORPHA:1154Malf.
Autosomal dominant, Autosomal recessive

Arthrogryposis-renal dysfunction-cholestasis syndrome

ORPHA:2697Malf.
Autosomal recessive

Arthrogryposis-severe scoliosis syndrome

ORPHA:65720Malf.

Asbestos intoxication

ORPHA:2302Kr.

Ascher syndrome

ORPHA:1253Malf.
Not applicable