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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

ORPHA:251279Заболевание
Autosomal recessive

Microscopic polyangiitis

ORPHA:727Заболевание
Not applicable

Microspherophakia-metaphyseal dysplasia syndrome

ORPHA:2551Порок
Autosomal dominant

Microsporidiosis

ORPHA:2552Заболевание
Not applicable

Microtia

ORPHA:83463Морф.
Autosomal dominant, Autosomal recessive, Not applicable

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

ORPHA:139450Порок
Autosomal dominant

Microtriplication 11q24.1 syndrome

ORPHA:289522Порок

Microvenular haemangioma

ORPHA:675369Заболевание

Microvillus inclusion disease

ORPHA:2290Заболевание
Autosomal recessive

Mid-dermal elastolysis

ORPHA:228299Заболевание
Not applicable

Middle East respiratory syndrome

ORPHA:576074Заболевание

Middle aortic syndrome

ORPHA:1456Морф.
Not applicable

Middle ear neuroendocrine tumor

ORPHA:100084Заболевание

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

ORPHA:688581Порок
X-linked recessive

Midline cerebral malformation

ORPHA:268926Кат.

Midline cervical cleft

ORPHA:141288Морф.
Not applicable

Midline interhemispheric variant of holoprosencephaly

ORPHA:93926Клин. подт.
Multigenic/multifactorial, Not applicable

Mietens syndrome

ORPHA:2557Порок
Autosomal recessive

Mikati-Najjar-Sahli syndrome

ORPHA:2558Порок
Autosomal recessive

Mild Canavan disease

ORPHA:314918Клин. подт.
Autosomal recessive

Mild hemophilia A

ORPHA:169808Клин. подт.
X-linked recessive

Mild hemophilia B

ORPHA:169799Клин. подт.
X-linked recessive

Mild hyperphenylalaninemia

ORPHA:79651Клин. подт.
Autosomal recessive

Mild phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411536Клин. подт.
X-linked recessive