MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Microlissencephaly-micromelia syndrome

ORPHA:50810Malf.
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Malf.
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Malf.
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Malf.
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Malf.
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Malf.
X-linked recessive

Microphthalmia-brain atrophy syndrome

ORPHA:77299Malf.
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Malf.

Microspherophakia-metaphyseal dysplasia syndrome

ORPHA:2551Malf.
Autosomal dominant

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

ORPHA:139450Malf.
Autosomal dominant

Microtriplication 11q24.1 syndrome

ORPHA:289522Malf.

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

ORPHA:688581Malf.
X-linked recessive

Mietens syndrome

ORPHA:2557Malf.
Autosomal recessive

Mikati-Najjar-Sahli syndrome

ORPHA:2558Malf.
Autosomal recessive

Miller-Dieker syndrome

ORPHA:531Malf.
Autosomal dominant

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

ORPHA:3004Malf.

Mitochondrial DNA-related cardiomyopathy and hearing loss

ORPHA:1349Malf.
Mitochondrial inheritance

Mixed cystic lymphatic malformation

ORPHA:458792Malf.
Not applicable

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

ORPHA:2560Malf.
Not applicable

Mononen-Karnes-Senac syndrome

ORPHA:2565Malf.
X-linked dominant

Monosomy 13q14 syndrome

ORPHA:1587Malf.
Not applicable

Monosomy 13q34 syndrome

ORPHA:96168Malf.
Not applicable

Monosomy 18q syndrome

ORPHA:1600Malf.
Autosomal dominant

Monosomy 22 syndrome

ORPHA:96123Malf.