MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Alkaline ceramidase 3 deficiency

ORPHA:502444Kr.
Autosomal recessive

Alkaptonuria

ORPHA:56Kr.
Autosomal recessive

Allan-Herndon-Dudley syndrome

ORPHA:59Kr.
X-linked recessive

Allergic bronchopulmonary aspergillosis

ORPHA:1164Kr.
Not applicable

Alobar holoprosencephaly

ORPHA:93925Kl. subt.
Multigenic/multifactorial, Not applicable

Alopecia antibody deficiency

ORPHA:1006Kr.
Unknown

Alopecia totalis

ORPHA:700Kr.
Multigenic/multifactorial

Alopecia universalis

ORPHA:701Kr.
Autosomal recessive, Multigenic/multifactorial

Alopecia-contractures-dwarfism-intellectual disability syndrome

ORPHA:1005Malf.
Autosomal recessive

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

ORPHA:1008Kr.
Autosomal dominant

Alopecia-intellectual disability syndrome

ORPHA:2850Kr.
Autosomal recessive

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

ORPHA:1014Kr.
Unknown

Alpers-Huttenlocher syndrome

ORPHA:726Kr.
Autosomal recessive

Alpha delta granule deficiency

ORPHA:734Kr.
Autosomal dominant, Autosomal recessive

Alpha-1-antitrypsin deficiency

ORPHA:60Kr.
Autosomal recessive

Alpha-B crystallin-related late-onset myopathy

ORPHA:399058Kr.
Autosomal dominant

Alpha-N-acetylgalactosaminidase deficiency

ORPHA:3137Kr.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 1

ORPHA:79279Kl. subt.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 2

ORPHA:79280Kl. subt.
Autosomal recessive

Alpha-N-acetylgalactosaminidase deficiency type 3

ORPHA:79281Kl. subt.
Autosomal recessive

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

ORPHA:280333Kr.
Autosomal recessive

Alpha-heavy chain disease

ORPHA:100025Kl. subt.

Alpha-mannosidosis

ORPHA:61Kr.
Autosomal recessive

Alpha-mannosidosis, adult form

ORPHA:309288Kl. subt.
Autosomal recessive