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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Alkaline ceramidase 3 deficiency

ORPHA:502444Disease
Autosomal recessive

Alkaptonuria

ORPHA:56Disease
Autosomal recessive

Allan-Herndon-Dudley syndrome

ORPHA:59Disease
X-linked recessive

Allergic bronchopulmonary aspergillosis

ORPHA:1164Disease
Not applicable

Alobar holoprosencephaly

ORPHA:93925Clin. sub.
Multigenic/multifactorial, Not applicable

Alopecia antibody deficiency

ORPHA:1006Disease
Unknown

Alopecia totalis

ORPHA:700Disease
Multigenic/multifactorial

Alopecia universalis

ORPHA:701Disease
Autosomal recessive, Multigenic/multifactorial

Alopecia-contractures-dwarfism-intellectual disability syndrome

ORPHA:1005Malform.
Autosomal recessive

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

ORPHA:1008Disease
Autosomal dominant

Alopecia-intellectual disability syndrome

ORPHA:2850Disease
Autosomal recessive

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

ORPHA:1014Disease
Unknown

Alpers-Huttenlocher syndrome

ORPHA:726Disease
Autosomal recessive

Alpha delta granule deficiency

ORPHA:734Disease
Autosomal dominant, Autosomal recessive

Alpha-1-antitrypsin deficiency

ORPHA:60Disease
Autosomal recessive

Alpha-B crystallin-related late-onset myopathy

ORPHA:399058Disease
Autosomal dominant

Alpha-N-acetylgalactosaminidase deficiency

ORPHA:3137Disease
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 1

ORPHA:79279Clin. sub.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 2

ORPHA:79280Clin. sub.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 3

ORPHA:79281Clin. sub.
Autosomal recessive

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

ORPHA:280333Disease
Autosomal recessive

Alpha-heavy chain disease

ORPHA:100025Clin. sub.

Alpha-mannosidosis

ORPHA:61Disease
Autosomal recessive

Alpha-mannosidosis, adult form

ORPHA:309288Clin. sub.
Autosomal recessive