MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Matthew-Wood syndrome

ORPHA:2470Malf.
Autosomal dominant, Autosomal recessive

Maxillonasal dysplasia

ORPHA:1248Malf.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial

May-Thurner syndrome

ORPHA:675404Kr.
Not applicable

Mayer-Rokitansky-Küster-Hauser syndrome

ORPHA:3109Malf.
Autosomal dominant, Not applicable

Mayer-Rokitansky-Küster-Hauser syndrome type 1

ORPHA:247775Kl. subt.
Autosomal dominant, Not applicable

Mayer-Rokitansky-Küster-Hauser syndrome type 2

ORPHA:2578Kl. subt.
Autosomal dominant, Not applicable

Mazabraud syndrome

ORPHA:57782Malf.
Not applicable

McCune-Albright syndrome

ORPHA:562Kr.
Not applicable

McDonough syndrome

ORPHA:2471Malf.

McKusick-Kaufman syndrome

ORPHA:2473Malf.
Autosomal recessive

McLeod neuroacanthocytosis syndrome

ORPHA:59306Kr.
X-linked recessive

Meacham syndrome

ORPHA:3097Malf.
Autosomal dominant

Meckel syndrome

ORPHA:564Malf.
Autosomal recessive

Meconium aspiration syndrome

ORPHA:70588Kr.
Not applicable

Medial condensing osteitis of the clavicle

ORPHA:57196Kr.
Not applicable

Median cleft lip/mandible

ORPHA:2006Morph.
Not applicable

Median facial cleft

ORPHA:141234Kl. gruppe

Median nodule of the upper lip

ORPHA:2699Malf.
Autosomal dominant

Mediastinal arteriovenous malformation

ORPHA:714709Morph.
Not applicable

Medich giant platelet syndrome

ORPHA:370127Kr.

Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42Kr.
Autosomal recessive

Medullary sponge kidney

ORPHA:1309Morph.
Autosomal dominant, Not applicable

Medullary thyroid carcinoma

ORPHA:1332Kr.
Not applicable

Medulloblastoma

ORPHA:616Kr.
Not applicable