MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Arginine vasopressin deficiency

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

Arginine vasopressin resistance

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

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

ORPHA:3145Ауру

Argininemia

ORPHA:90Ауру
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Ауру
Autosomal recessive

Argyria

ORPHA:60014Ауру
Not applicable

Arnold-Chiari malformation type I

ORPHA:268882Морф.
Unknown

Aromatase deficiency

ORPHA:91Ауру
Autosomal recessive

Aromatase excess syndrome

ORPHA:178345Ауру
Autosomal dominant

Aromatic L-amino acid decarboxylase deficiency

ORPHA:35708Ауру
Autosomal recessive

Arterial dissection-lentiginosis syndrome

ORPHA:1682Мальф.
Unknown

Arterial tortuosity syndrome

ORPHA:3342Мальф.
Autosomal recessive

Arthrochalasia Ehlers-Danlos syndrome

ORPHA:1899Ауру
Autosomal dominant

Arthrogryposis multiplex congenita

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

Arthrogryposis multiplex congenita-whistling face syndrome

ORPHA:1150Мальф.
Autosomal recessive

Arthrogryposis-anterior horn cell disease syndrome

ORPHA:53696Мальф.
Autosomal recessive

Arthrogryposis-ectodermal dysplasia syndrome

ORPHA:3200Мальф.
Unknown

Arthrogryposis-hyperkeratosis syndrome, lethal form

ORPHA:1485Мальф.
Unknown

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

ORPHA:1144Мальф.
Unknown

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

ORPHA:1154Мальф.
Autosomal dominant, Autosomal recessive

Arthrogryposis-renal dysfunction-cholestasis syndrome

ORPHA:2697Мальф.
Autosomal recessive

Arthrogryposis-severe scoliosis syndrome

ORPHA:65720Мальф.

Asbestos intoxication

ORPHA:2302Ауру

Ascher syndrome

ORPHA:1253Мальф.
Not applicable