Rare Disease Library

Medial condensing osteitis of the clavicle

Osteitis condensans of the clavicle

Median cleft lip/mandible

Median mandibular cleft · Median cleft lower facial stage

Median cleft of the upper lip and maxilla

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

Multiple epiphyseal dysplasia

MED · EDM

Alpha-heavy chain disease

Alpha-HCD · IPSID

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

Boutonneuse fever

Mediterranean spotted fever

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Dracunculiasis

Dracunculosis · Guinea worm disease

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Frontonasal dysplasia

Median cleft face syndrome

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

IgG4-related mediastinitis

Fibrosing mediastinitis · Mediastinal fibrosis

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Primary mediastinal large B-cell lymphoma

Large cell lymphoma of the mediastinum · Med-DLBCL

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

Acute encephalopathy with inflammation-mediated status epilepticus

Anaplastic/large cell medulloblastoma

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type

Autosomal dominant intermediate Charcot-Marie-Tooth disease

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

CMTDIA

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

CMTDIB

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

CMTDIC

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

CMTDIF

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain