Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
H syndrome
Autosomal recessive
Childhood
HANAC syndrome
Autosomal dominant
Childhood
HEC syndrome
Unknown
Neonatal
HELLP syndrome
Multigenic/multifactorial
Adult
HHV-8-associated multicentric Castleman disease
All ages
HIDEA syndrome
Autosomal recessive
Infancy, Neonatal
HIV-associated cancer
Not applicable
HJV or HAMP-related hemochromatosis
Autosomal recessive
Adolescent, Adult, Childhood
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Autosomal dominant
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
HNRNPA1-related adult-onset distal myopathy
Adult
HNRNPDL-related limb-girdle muscular dystrophy D3
Autosomal dominant
Adolescent, Adult
HSD10 disease
X-linked dominant
Childhood, Infancy, Neonatal
HSD10 disease, atypical type
X-linked dominant
Childhood, Infancy
HSD10 disease, infantile type
X-linked dominant
Infancy, Neonatal
HSD10 disease, neonatal type
X-linked dominant
Infancy, Neonatal
HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Autosomal dominant
Adolescent, Adult, Childhood
HTRA1-related autosomal dominant cerebral small vessel disease
Autosomal dominant
Adult, Elderly
Haddad syndrome
Autosomal dominant, Multigenic/multifactorial
Infancy, Neonatal
Hailey-Hailey disease
Autosomal dominant
Adult
Haim-Munk syndrome
Autosomal recessive
Childhood, Infancy
Hairy cell leukemia variant
Unknown
Adult, Elderly
Hajdu-Cheney syndrome
Autosomal dominant
Childhood, Infancy
Hall-Riggs syndrome
Autosomal recessive
Neonatal
Hallermann-Streiff syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal