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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

ORPHA:596008Клин. подт.
Autosomal dominant

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Порок
Autosomal dominant

Aortic arch defects

ORPHA:1132Кат.
Not applicable

Aortic arch interruption

ORPHA:2299Морф.
Not applicable

Aorto-ventricular tunnel

ORPHA:3400Морф.
Not applicable

Apert syndrome

ORPHA:87Порок
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Порок
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Порок
Autosomal dominant

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

ORPHA:324540Порок
Autosomal recessive

Aplasia cutis congenita

ORPHA:1114Порок
Autosomal dominant, Autosomal recessive, Not applicable

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

ORPHA:1116Заболевание
Autosomal recessive

Aplasia cutis-myopia syndrome

ORPHA:1117Заболевание
Autosomal recessive

Aplasia of lacrimal and salivary glands

ORPHA:86815Заболевание
Autosomal dominant

Aplastic anemia-intellectual disability-dwarfism syndrome

ORPHA:611216Заболевание

Apnea of prematurity

ORPHA:99981Заболевание
Not applicable

Apolipoprotein A-I deficiency

ORPHA:425Заболевание
Autosomal dominant

Apparent mineralocorticoid excess

ORPHA:320Заболевание
Autosomal recessive

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Порок

Aquagenic palmoplantar keratoderma

ORPHA:498359Заболевание

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Порок
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Порок
Unknown

Arachnoid cyst

ORPHA:2356Морф.
Autosomal recessive, Not applicable

Arachnoiditis

ORPHA:137817Заболевание
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Заболевание