MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

McLeod neuroacanthocytosis syndrome

ORPHA:59306Disease
X-linked recessive

Meconium aspiration syndrome

ORPHA:70588Disease
Not applicable

Medial condensing osteitis of the clavicle

ORPHA:57196Disease
Not applicable

Medich giant platelet syndrome

ORPHA:370127Disease

Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42Disease
Autosomal recessive

Medullary thyroid carcinoma

ORPHA:1332Disease
Not applicable

Medulloblastoma

ORPHA:616Disease
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Disease
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Disease
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Disease

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

ORPHA:402023Disease

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Disease
Autosomal dominant, Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Disease

Meige disease

ORPHA:90186Disease
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Disease
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Disease
Not applicable

Melioidosis

ORPHA:31202Disease

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

ORPHA:319547Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

ORPHA:319558Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

ORPHA:319552Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ORPHA:319563Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

ORPHA:477857Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

ORPHA:319600Disease
Autosomal dominant