Rare Disease Library

Microvillus inclusion disease

Congenital microvillous atrophy · Congenital microvillus atrophy

Micturition-induced epilepsy

Mid-dermal elastolysis

Middle and/or inner ear anomaly

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Middle ear neuroendocrine tumor

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome

Midline cerebral malformation

Midline brain malformation

Midline cervical cleft

Midline interhemispheric variant of holoprosencephaly

MIH · MIH type HPE

Mietens syndrome

Intellectual disability, Mietens-Weber type

Mild Canavan disease

Juvenile Canavan disease

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hyperphenylalaninemia

Mild HPA · Non-PKU HPA

Mild phenylketonuria

Mild PKU · mPKU

Mild phosphoribosylpyrophosphate synthetase superactivity

Mild PRPP synthetase superactivity · Mild PRPS1 superactivity

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Mills syndrome

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

MIR140-related spondyloepiphyseal dysplasia

MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses

MIRAGE syndrome

Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome · Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mirizzi syndrome

Extrinsic biliary compression syndrome

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

Mirror-image polydactyly

Miscellaneous movement disorder due to genetic neurodegenerative disease

Miscellaneous movement disorder due to neurodegenerative disease

MiT family translocation renal cell carcinoma

Carcinoma associated with MITF/TFE translocation · Kidney cancer

Mitchell Syndrome

MITF-related melanoma and renal cell carcinoma predisposition syndrome

Kidney cancer · RCC

Mitochondrial disease

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial disease with epilepsy

Mitochondrial disease with hypertrophic cardiomyopathy

Mitochondrial disease with peripheral neuropathy

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form

mtDNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

mtDNA depletion syndrome, hepatocerebrorenal form