MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Hereditary sensory and autonomic neuropathy type 7

ORPHA:391397Заболевание
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 8

ORPHA:478664Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy with deafness and global delay

ORPHA:139573Заболевание
Autosomal recessive

Hereditary sensory neuropathy-deafness-dementia syndrome

ORPHA:456318Заболевание
Autosomal dominant

Hereditary sick sinus syndrome

ORPHA:166282Заболевание
Autosomal dominant, Autosomal recessive

Hereditary sodium channelopathy-related small fibers neuropathy

ORPHA:306577Заболевание
Autosomal dominant

Hereditary spherocytosis

ORPHA:822Заболевание
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Заболевание
Autosomal dominant, Autosomal recessive

Hereditary thermosensitive neuropathy

ORPHA:84093Заболевание

Hereditary thrombocytopenia with early-onset myelofibrosis

ORPHA:480851Заболевание
Autosomal dominant

Hereditary thrombocytopenia with normal platelets

ORPHA:268322Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Hereditary thrombophilia due to congenital antithrombin deficiency

ORPHA:82Заболевание
Autosomal dominant

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

ORPHA:217467Заболевание
Autosomal dominant

Hereditary xanthinuria

ORPHA:3467Заболевание
Autosomal recessive

Hermansky-Pudlak syndrome

ORPHA:79430Заболевание
Autosomal recessive

Herpes simplex virus encephalitis

ORPHA:1930Заболевание
Multigenic/multifactorial, Not applicable

Herpes simplex virus stromal keratitis

ORPHA:137599Заболевание
Not applicable

Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene

ORPHA:715143Заболевание
Autosomal recessive

Hidrotic ectodermal dysplasia

ORPHA:189Заболевание
Autosomal dominant

High bone mass osteogenesis imperfecta

ORPHA:314029Заболевание
Autosomal dominant

High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

ORPHA:480541Заболевание

High myopia-sensorineural deafness syndrome

ORPHA:363396Заболевание
Autosomal recessive

High-grade neuroendocrine carcinoma of the cervix uteri

ORPHA:213777Заболевание

Hinman syndrome

ORPHA:84085Заболевание