Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Alkaline ceramidase 3 deficiency
Autosomal recessive
Infancy
Alkaptonuria
Autosomal recessive
Adult, Infancy
Allan-Herndon-Dudley syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
Allergic bronchopulmonary aspergillosis
Not applicable
Childhood
Alobar holoprosencephaly
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Alopecia antibody deficiency
Unknown
Childhood, Infancy
Alopecia totalis
Multigenic/multifactorial
All ages
Alopecia universalis
Autosomal recessive, Multigenic/multifactorial
All ages
Alopecia-contractures-dwarfism-intellectual disability syndrome
Autosomal recessive
Antenatal, Neonatal
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Autosomal dominant
Neonatal
Alopecia-intellectual disability syndrome
Autosomal recessive
Neonatal
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Unknown
Neonatal
Alpers-Huttenlocher syndrome
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Alpha delta granule deficiency
Autosomal dominant, Autosomal recessive
Alpha-1-antitrypsin deficiency
Autosomal recessive
All ages
Alpha-B crystallin-related late-onset myopathy
Autosomal dominant
Adult
Alpha-N-acetylgalactosaminidase deficiency
Autosomal recessive
Adult, Childhood, Infancy
Alpha-N-acetylgalactosaminidase deficiency type 1
Autosomal recessive
Infancy, Neonatal
Alpha-N-acetylgalactosaminidase deficiency type 2
Autosomal recessive
Adult
Alpha-N-acetylgalactosaminidase deficiency type 3
Autosomal recessive
Childhood
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Autosomal recessive
Childhood
Alpha-heavy chain disease
Adolescent, Adult
Alpha-mannosidosis
Autosomal recessive
Childhood, Infancy, Neonatal
Alpha-mannosidosis, adult form
Autosomal recessive
Adult