MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Alkaline ceramidase 3 deficiency

ORPHA:502444Ауру
Autosomal recessive

Alkaptonuria

ORPHA:56Ауру
Autosomal recessive

Allan-Herndon-Dudley syndrome

ORPHA:59Ауру
X-linked recessive

Allergic bronchopulmonary aspergillosis

ORPHA:1164Ауру
Not applicable

Alobar holoprosencephaly

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

Alopecia antibody deficiency

ORPHA:1006Ауру
Unknown

Alopecia totalis

ORPHA:700Ауру
Multigenic/multifactorial

Alopecia universalis

ORPHA:701Ауру
Autosomal recessive, Multigenic/multifactorial

Alopecia-contractures-dwarfism-intellectual disability syndrome

ORPHA:1005Мальф.
Autosomal recessive

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

ORPHA:1008Ауру
Autosomal dominant

Alopecia-intellectual disability syndrome

ORPHA:2850Ауру
Autosomal recessive

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

ORPHA:1014Ауру
Unknown

Alpers-Huttenlocher syndrome

ORPHA:726Ауру
Autosomal recessive

Alpha delta granule deficiency

ORPHA:734Ауру
Autosomal dominant, Autosomal recessive

Alpha-1-antitrypsin deficiency

ORPHA:60Ауру
Autosomal recessive

Alpha-B crystallin-related late-onset myopathy

ORPHA:399058Ауру
Autosomal dominant

Alpha-N-acetylgalactosaminidase deficiency

ORPHA:3137Ауру
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 1

ORPHA:79279Клин. под.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 2

ORPHA:79280Клин. под.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 3

ORPHA:79281Клин. под.
Autosomal recessive

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

ORPHA:280333Ауру
Autosomal recessive

Alpha-heavy chain disease

ORPHA:100025Клин. под.

Alpha-mannosidosis

ORPHA:61Ауру
Autosomal recessive

Alpha-mannosidosis, adult form

ORPHA:309288Клин. под.
Autosomal recessive