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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

Hereditary cryohydrocytosis with normal stomatin

ORPHA:398088Ауру
Autosomal dominant

Hereditary cryohydrocytosis with reduced stomatin

ORPHA:168577Ауру
Autosomal dominant

Hereditary diffuse gastric cancer

ORPHA:26106Ауру
Autosomal dominant

Hereditary elliptocytosis

ORPHA:288Ауру
Autosomal dominant, Autosomal recessive

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

ORPHA:221043Ауру
Autosomal dominant

Hereditary folate malabsorption

ORPHA:90045Ауру
Autosomal recessive

Hereditary fructose intolerance

ORPHA:469Ауру
Autosomal recessive

Hereditary geniospasm

ORPHA:53372Ауру
Autosomal dominant

Hereditary hemorrhagic telangiectasia

ORPHA:774Ауру
Autosomal dominant

Hereditary hypercarotenemia and vitamin A deficiency

ORPHA:199285Ауру
Autosomal dominant

Hereditary hyperekplexia

ORPHA:3197Ауру
Autosomal dominant, Autosomal recessive

Hereditary hyperferritinemia-cataract syndrome

ORPHA:163Ауру
Autosomal dominant

Hereditary hypophosphatemic rickets with hypercalciuria

ORPHA:157215Ауру
Autosomal dominant, Autosomal recessive

Hereditary hypotrichosis with recurrent skin vesicles

ORPHA:217407Ауру
Autosomal recessive

Hereditary inclusion body myopathy type 4

ORPHA:324381Ауру
Autosomal dominant

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

ORPHA:79091Ауру
Autosomal dominant

Hereditary isolated aplastic anemia

ORPHA:397692Ауру
Autosomal dominant, Autosomal recessive

Hereditary late-onset Parkinson disease

ORPHA:411602Ауру
Autosomal dominant

Hereditary leiomyomatosis and renal cell cancer

ORPHA:523Ауру
Autosomal dominant

Hereditary mixed polyposis syndrome

ORPHA:157794Ауру
Autosomal dominant

Hereditary motor and sensory neuropathy type 5

ORPHA:64751Ауру
Autosomal dominant

Hereditary motor and sensory neuropathy type 6

ORPHA:90120Ауру
Autosomal dominant, Autosomal recessive

Hereditary motor and sensory neuropathy with acrodystrophy

ORPHA:90119Ауру
Autosomal recessive

Hereditary motor and sensory neuropathy, Okinawa type

ORPHA:90117Ауру
Autosomal dominant