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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:251279Disease
Autosomal recessive

Microscopic polyangiitis

ORPHA:727Disease
Not applicable

Microspherophakia-metaphyseal dysplasia syndrome

ORPHA:2551Malform.
Autosomal dominant

Microsporidiosis

ORPHA:2552Disease
Not applicable

Microtia

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

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

ORPHA:139450Malform.
Autosomal dominant

Microtriplication 11q24.1 syndrome

ORPHA:289522Malform.

Microvenular haemangioma

ORPHA:675369Disease

Microvillus inclusion disease

ORPHA:2290Disease
Autosomal recessive

Mid-dermal elastolysis

ORPHA:228299Disease
Not applicable

Middle East respiratory syndrome

ORPHA:576074Disease

Middle aortic syndrome

ORPHA:1456Morph.
Not applicable

Middle ear neuroendocrine tumor

ORPHA:100084Disease

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

ORPHA:688581Malform.
X-linked recessive

Midline cerebral malformation

ORPHA:268926Cat.

Midline cervical cleft

ORPHA:141288Morph.
Not applicable

Midline interhemispheric variant of holoprosencephaly

ORPHA:93926Clin. sub.
Multigenic/multifactorial, Not applicable

Mietens syndrome

ORPHA:2557Malform.
Autosomal recessive

Mikati-Najjar-Sahli syndrome

ORPHA:2558Malform.
Autosomal recessive

Mild Canavan disease

ORPHA:314918Clin. sub.
Autosomal recessive

Mild hemophilia A

ORPHA:169808Clin. sub.
X-linked recessive

Mild hemophilia B

ORPHA:169799Clin. sub.
X-linked recessive

Mild hyperphenylalaninemia

ORPHA:79651Clin. sub.
Autosomal recessive

Mild phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411536Clin. sub.
X-linked recessive