MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

ORPHA:596008Клин. подтип
Autosomal dominant

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Мальформация
Autosomal dominant

Aortic arch defects

ORPHA:1132Категория
Not applicable

Aortic arch interruption

ORPHA:2299Морф. аномалия
Not applicable

Aorto-ventricular tunnel

ORPHA:3400Морф. аномалия
Not applicable

Apert syndrome

ORPHA:87Мальформация
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Мальформация
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Мальформация
Autosomal dominant

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

ORPHA:324540Мальформация
Autosomal recessive

Aplasia cutis congenita

ORPHA:1114Мальформация
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:1126Мальформация

Aquagenic palmoplantar keratoderma

ORPHA:498359Заболевание

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Мальформация
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Мальформация
Unknown

Arachnoid cyst

ORPHA:2356Морф. аномалия
Autosomal recessive, Not applicable

Arachnoiditis

ORPHA:137817Заболевание
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Заболевание