MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Multiple epiphyseal dysplasia type 7

ORPHA:647676Disease

Multiple epiphyseal dysplasia, Lowry type

ORPHA:166016Disease

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

ORPHA:166024Disease
Autosomal recessive

Multiple epiphyseal dysplasia-miniepiphyses syndrome

ORPHA:166032Disease

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

ORPHA:166029Disease

Multiple mitochondrial dysfunctions syndrome

ORPHA:289573Clin. grp.
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 1

ORPHA:401869Disease
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 2

ORPHA:401874Disease
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 3

ORPHA:363424Disease
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 4

ORPHA:457406Disease
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 5

ORPHA:569274Disease
Autosomal recessive

Multiple mitochondrial dysfunctions syndrome type 6

ORPHA:569290Disease
Autosomal recessive

Multiple myeloma

ORPHA:29073Disease
Not applicable

Multiple osteochondromas

ORPHA:321Disease
Autosomal dominant

Multiple paragangliomas associated with polycythemia

ORPHA:324299Disease
Not applicable

Multiple pterygium-malignant hyperthermia syndrome

ORPHA:2215Malform.
Autosomal recessive

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

ORPHA:3151Disease
Unknown

Multiple self-healing squamous epithelioma

ORPHA:65748Disease
Autosomal dominant

Multiple sulfatase deficiency

ORPHA:585Disease
Autosomal recessive

Multiple symmetric lipomatosis

ORPHA:2398Disease
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable

Multiple synostoses syndrome

ORPHA:3237Malform.
Autosomal dominant

Multiple system atrophy

ORPHA:102Disease
Multigenic/multifactorial, Not applicable

Multiple system atrophy, cerebellar type

ORPHA:227510Clin. sub.
Not applicable

Multiple system atrophy, parkinsonian type

ORPHA:98933Clin. sub.
Not applicable