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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Arginine vasopressin deficiency

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

Arginine vasopressin resistance

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

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

ORPHA:3145Заболевание

Argininemia

ORPHA:90Заболевание
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Заболевание
Autosomal recessive

Argyria

ORPHA:60014Заболевание
Not applicable

Arnold-Chiari malformation type I

ORPHA:268882Морф.
Unknown

Aromatase deficiency

ORPHA:91Заболевание
Autosomal recessive

Aromatase excess syndrome

ORPHA:178345Заболевание
Autosomal dominant

Aromatic L-amino acid decarboxylase deficiency

ORPHA:35708Заболевание
Autosomal recessive

Arterial dissection-lentiginosis syndrome

ORPHA:1682Порок
Unknown

Arterial tortuosity syndrome

ORPHA:3342Порок
Autosomal recessive

Arthrochalasia Ehlers-Danlos syndrome

ORPHA:1899Заболевание
Autosomal dominant

Arthrogryposis multiplex congenita

ORPHA:1037Клин. гр.
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Arthrogryposis multiplex congenita-whistling face syndrome

ORPHA:1150Порок
Autosomal recessive

Arthrogryposis-anterior horn cell disease syndrome

ORPHA:53696Порок
Autosomal recessive

Arthrogryposis-ectodermal dysplasia syndrome

ORPHA:3200Порок
Unknown

Arthrogryposis-hyperkeratosis syndrome, lethal form

ORPHA:1485Порок
Unknown

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

ORPHA:1144Порок
Unknown

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

ORPHA:1154Порок
Autosomal dominant, Autosomal recessive

Arthrogryposis-renal dysfunction-cholestasis syndrome

ORPHA:2697Порок
Autosomal recessive

Arthrogryposis-severe scoliosis syndrome

ORPHA:65720Порок

Asbestos intoxication

ORPHA:2302Заболевание

Ascher syndrome

ORPHA:1253Порок
Not applicable