Rare Disease Library

Median facial cleft

Midline facial cleft · Tessier number 0-14 and 30 facial cleft

Median nodule of the upper lip

Medich giant platelet syndrome

Medich macrothrombocytopenia

Mediterranean macrothrombocytopenia

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

Medullar disease

Medullary sponge kidney

Cacchi-Ricci disease · MSK

Medullary thyroid carcinoma

MTC

Medulloblastoma

Medulloblastoma with extensive nodularity

MBEN

Medulloepithelioma of the central nervous system

Meesmann corneal dystrophy

Juvenile hereditary epithelial dystrophy of Meesmann · MECD

Mega-cisterna magna

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Megacystis-megaureter syndrome

Megaureter-megacystis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

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

Acute myeloid leukemia · AML

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Meigs syndrome

Demons-Meigs syndrome

Melanoma and neural system tumor syndrome

Melanoma-astrocytoma syndrome

Melanoma of soft tissue

Clear cell sarcoma of the tendons and aponeuroses

MELAS

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes · Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes

Melhem-Fahl syndrome

Melioidosis

Burkholderia pseudomallei infection

Melkersson-Rosenthal syndrome

Melnick-Needles syndrome

Melnick-Needles osteodysplasty

Melorheostosis

Melorheostosis with osteopoikilosis

MSBD syndrome · Mixed sclerosing bone dystrophy

MEND syndrome

Male EBP disorder with neurological defects

Mendelian susceptibility to mycobacterial diseases

Idiopathic infection caused by BCG or atypical mycobacteria · MSMD

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

MSMD due to complete IFNgammaR1 deficiency · MSMD due to complete interferon gamma receptor 1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

MSMD due to complete IFNgammaR2 deficiency · MSMD due to complete interferon gamma receptor 2 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

MSMD due to complete IL12RB1 deficiency · MSMD due to complete interleukin 12 receptor beta 1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

MSMD due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

MSMD due to complete RORgamma receptor defiency · Primary immunodeficiency due to RORC mutation

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency

Ménétrier disease

Hypoproteinemic hypertrophic gastropathy · Giant hypertrophic gastritis