MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Multiple epiphyseal dysplasia type 7

ORPHA:647676Kr.

Multiple epiphyseal dysplasia, Lowry type

ORPHA:166016Kr.

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

ORPHA:166024Kr.
Autosomal recessive

Multiple epiphyseal dysplasia-miniepiphyses syndrome

ORPHA:166032Kr.

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

ORPHA:166029Kr.

Multiple mitochondrial dysfunctions syndrome

ORPHA:289573Kl. gruppe
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 1

ORPHA:401869Kr.
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 2

ORPHA:401874Kr.
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 3

ORPHA:363424Kr.
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 4

ORPHA:457406Kr.
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 5

ORPHA:569274Kr.
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 6

ORPHA:569290Kr.
Autosomal recessive

Multiple myeloma

ORPHA:29073Kr.
Not applicable

Multiple osteochondromas

ORPHA:321Kr.
Autosomal dominant

Multiple paragangliomas associated with polycythemia

ORPHA:324299Kr.
Not applicable

Multiple pterygium-malignant hyperthermia syndrome

ORPHA:2215Malf.
Autosomal recessive

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

ORPHA:3151Kr.
Unknown

Multiple self-healing squamous epithelioma

ORPHA:65748Kr.
Autosomal dominant

Multiple sulfatase deficiency

ORPHA:585Kr.
Autosomal recessive

Multiple symmetric lipomatosis

ORPHA:2398Kr.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable

Multiple synostoses syndrome

ORPHA:3237Malf.
Autosomal dominant

Multiple system atrophy

ORPHA:102Kr.
Multigenic/multifactorial, Not applicable

Multiple system atrophy, cerebellar type

ORPHA:227510Kl. subt.
Not applicable

Multiple system atrophy, parkinsonian type

ORPHA:98933Kl. subt.
Not applicable