MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

ORPHA:251279Kr.
Autosomal recessive

Microscopic polyangiitis

ORPHA:727Kr.
Not applicable

Microspherophakia-metaphyseal dysplasia syndrome

ORPHA:2551Malf.
Autosomal dominant

Microsporidiosis

ORPHA:2552Kr.
Not applicable

Microtia

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

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

ORPHA:139450Malf.
Autosomal dominant

Microtriplication 11q24.1 syndrome

ORPHA:289522Malf.

Microvenular haemangioma

ORPHA:675369Kr.

Microvillus inclusion disease

ORPHA:2290Kr.
Autosomal recessive

Mid-dermal elastolysis

ORPHA:228299Kr.
Not applicable

Middle East respiratory syndrome

ORPHA:576074Kr.

Middle aortic syndrome

ORPHA:1456Morph.
Not applicable

Middle ear neuroendocrine tumor

ORPHA:100084Kr.

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

ORPHA:688581Malf.
X-linked recessive

Midline cerebral malformation

ORPHA:268926Kat.

Midline cervical cleft

ORPHA:141288Morph.
Not applicable

Midline interhemispheric variant of holoprosencephaly

ORPHA:93926Kl. subt.
Multigenic/multifactorial, Not applicable

Mietens syndrome

ORPHA:2557Malf.
Autosomal recessive

Mikati-Najjar-Sahli syndrome

ORPHA:2558Malf.
Autosomal recessive

Mild Canavan disease

ORPHA:314918Kl. subt.
Autosomal recessive

Mild hemophilia A

ORPHA:169808Kl. subt.
X-linked recessive

Mild hemophilia B

ORPHA:169799Kl. subt.
X-linked recessive

Mild hyperphenylalaninemia

ORPHA:79651Kl. subt.
Autosomal recessive

Mild phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411536Kl. subt.
X-linked recessive