MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Hereditary breast cancer

ORPHA:227535Заболевание
Autosomal dominant, Multigenic/multifactorial

Hereditary bullous dystrophy, macular type

ORPHA:1867Заболевание
X-linked recessive

Hereditary butyrylcholinesterase deficiency

ORPHA:132Заболевание
Autosomal recessive

Hereditary cerebral amyloid angiopathy

ORPHA:85458Заболевание
Autosomal dominant

Hereditary clear cell renal cell carcinoma

ORPHA:422526Заболевание
Unknown

Hereditary combined deficiency of vitamin K-dependent clotting factors

ORPHA:98434Заболевание
Autosomal recessive

Hereditary continuous muscle fiber activity

ORPHA:972Заболевание
Autosomal dominant

Hereditary coproporphyria

ORPHA:79273Заболевание
Autosomal dominant

Hereditary cryohydrocytosis with normal stomatin

ORPHA:398088Заболевание
Autosomal dominant

Hereditary cryohydrocytosis with reduced stomatin

ORPHA:168577Заболевание
Autosomal dominant

Hereditary diffuse gastric cancer

ORPHA:26106Заболевание
Autosomal dominant

Hereditary elliptocytosis

ORPHA:288Заболевание
Autosomal dominant, Autosomal recessive

Hereditary episodic ataxia

ORPHA:211062Категория

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

ORPHA:221043Заболевание
Autosomal dominant

Hereditary folate malabsorption

ORPHA:90045Заболевание
Autosomal recessive

Hereditary fructose intolerance

ORPHA:469Заболевание
Autosomal recessive

Hereditary geniospasm

ORPHA:53372Заболевание
Autosomal dominant

Hereditary gingival fibromatosis

ORPHA:2024Мальформация
Autosomal dominant

Hereditary hemorrhagic telangiectasia

ORPHA:774Заболевание
Autosomal dominant

Hereditary hypercarotenemia and vitamin A deficiency

ORPHA:199285Заболевание
Autosomal dominant

Hereditary hyperekplexia

ORPHA:3197Заболевание
Autosomal dominant, Autosomal recessive

Hereditary hyperferritinemia-cataract syndrome

ORPHA:163Заболевание
Autosomal dominant

Hereditary hypophosphatemic rickets with hypercalciuria

ORPHA:157215Заболевание
Autosomal dominant, Autosomal recessive

Hereditary hypotrichosis with recurrent skin vesicles

ORPHA:217407Заболевание
Autosomal recessive