MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Medulloblastoma with extensive nodularity

ORPHA:251858Hist. sub.
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Disease
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Disease
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Disease

Megacystis-microcolon-intestinal hypoperistalsis syndrome

ORPHA:2241Malform.
Autosomal dominant, Autosomal recessive

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

ORPHA:402023Disease

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Disease
Autosomal dominant, Autosomal recessive

Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040Malform.
Not applicable

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA:83473Malform.
Autosomal dominant, Not applicable

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359Malform.
Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Disease

Megalocornea-intellectual disability syndrome

ORPHA:2479Malform.

Meige disease

ORPHA:90186Disease
Not applicable

Meigs syndrome

ORPHA:314451Clinical syndrome
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Disease
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Disease
Not applicable

Melhem-Fahl syndrome

ORPHA:2482Malform.

Melioidosis

ORPHA:31202Disease

Melkersson-Rosenthal syndrome

ORPHA:2483Malform.

Melnick-Needles syndrome

ORPHA:2484Malform.
X-linked dominant

Melorheostosis

ORPHA:2485Malform.
Not applicable

Melorheostosis with osteopoikilosis

ORPHA:1879Malform.
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases

ORPHA:748Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Disease
Autosomal recessive