MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Alkaline ceramidase 3 deficiency

ORPHA:502444Заболевание
Autosomal recessive

Alkaptonuria

ORPHA:56Заболевание
Autosomal recessive

Allan-Herndon-Dudley syndrome

ORPHA:59Заболевание
X-linked recessive

Allergic bronchopulmonary aspergillosis

ORPHA:1164Заболевание
Not applicable

Alobar holoprosencephaly

ORPHA:93925Клин. подтип
Multigenic/multifactorial, Not applicable

Alopecia antibody deficiency

ORPHA:1006Заболевание
Unknown

Alopecia totalis

ORPHA:700Заболевание
Multigenic/multifactorial

Alopecia universalis

ORPHA:701Заболевание
Autosomal recessive, Multigenic/multifactorial

Alopecia-contractures-dwarfism-intellectual disability syndrome

ORPHA:1005Мальформация
Autosomal recessive

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

ORPHA:1008Заболевание
Autosomal dominant

Alopecia-intellectual disability syndrome

ORPHA:2850Заболевание
Autosomal recessive

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

ORPHA:1014Заболевание
Unknown

Alpers-Huttenlocher syndrome

ORPHA:726Заболевание
Autosomal recessive

Alpha delta granule deficiency

ORPHA:734Заболевание
Autosomal dominant, Autosomal recessive

Alpha-1-antitrypsin deficiency

ORPHA:60Заболевание
Autosomal recessive

Alpha-B crystallin-related late-onset myopathy

ORPHA:399058Заболевание
Autosomal dominant

Alpha-N-acetylgalactosaminidase deficiency

ORPHA:3137Заболевание
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 1

ORPHA:79279Клин. подтип
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 2

ORPHA:79280Клин. подтип
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 3

ORPHA:79281Клин. подтип
Autosomal recessive

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

ORPHA:280333Заболевание
Autosomal recessive

Alpha-heavy chain disease

ORPHA:100025Клин. подтип

Alpha-mannosidosis

ORPHA:61Заболевание
Autosomal recessive

Alpha-mannosidosis, adult form

ORPHA:309288Клин. подтип
Autosomal recessive