Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [M]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Microencephaly
• Microgastria limb reduction defect
• Microgastria-limb reduction defects association - See Microgastria limb reduction defect
• Microhydranencephaly
• Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects - See Spondyloepimetaphyseal dysplasia micromelic
• Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification - See Desbuquois syndrome
• Micromelic dysplasia congenita with dislocation of radius - See Omodysplasia 1
• Micropenis - See Penis agenesis
• Microphthalmia
• Microphthalmia and brain atrophy - See Microphthalmia syndromic 10
• Microphthalmia and esophageal atresia syndrome - See Syndromic microphthalmia, type 3
• Microphthalmia and pituitary anomalies - See Microphthalmia syndromic 6
• Microphthalmia associated with colobomatous cyst
• Microphthalmia cataracts radiculomegaly and septal heart defects - See Oculofaciocardiodental syndrome
• Microphthalmia Dermal Aplasia and Sclerocornea syndrome - See Microphthalmia with linear skin defects syndrome
• Microphthalmia Lenz type - See Lenz microphthalmia syndrome
• Microphthalmia microtia fetal akinesia
• Microphthalmia or anophthalmos with associated anomalies (formerly) - See Lenz microphthalmia syndrome
• Microphthalmia syndromic 1 - See Lenz microphthalmia syndrome
• Microphthalmia syndromic 10
• Microphthalmia syndromic 2 - See Oculofaciocardiodental syndrome
• Microphthalmia syndromic 4
• Microphthalmia syndromic 5
• Microphthalmia syndromic 6
• Microphthalmia syndromic 8
• Microphthalmia syndromic 9
• Microphthalmia with ankyloblepharon and mental retardation - See Microphthalmia syndromic 4
• Microphthalmia with brain and digit developmental anomalies - See Microphthalmia syndromic 6
• Microphthalmia with cataract 1
• Microphthalmia with facial clefting - See Anophthalmia plus syndrome
• Microphthalmia with linear skin defects - See Microphthalmia with linear skin defects syndrome
• Microphthalmia with linear skin defects syndrome
• Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects - See Syndromic microphthalmia-12
• Microphthalmia-anophthalmia-coloboma spectrum - See Microphthalmia
• Microphthalmia-dermal aplasia-sclerocornea syndrome - See Microphthalmia with linear skin defects syndrome
• Microphthalmia-microtia-fetal akinesia - See Microphthalmia microtia fetal akinesia
• Microphthalmia-optic nerve dysplasia - See Oculo-cerebral dysplasia
• Microphthalmos bilateral, colobomatous orbital cyst - See Microphthalmia associated with colobomatous cyst
• Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities - See Rodrigues blindness
• Microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism - See Duker Weiss Siber syndrome
• Micropthalmia syndromic 7 - See Microphthalmia with linear skin defects syndrome
• Microscopic colitis, collagenous type - See Collagenous colitis - not a rare disease
• Microscopic polyangiitis
• Microsomal triglyceride transfer protein deficiency - See Abetalipoproteinemia
• Microsomal triglyceride transfer protein deficiency disease - See Abetalipoproteinemia
• Microsomia hemifacial radial defects
• Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma - See Megalocornea - spherophakia - secondary glaucoma
• Microspherophakia with hernia
• Microspherophakia-metaphyseal dysplasia - See Verloes Van Maldergem Marneffe syndrome
• Microsporidiasis - See Microsporidiosis
• Microsporidiosis
• Microtia aortic arch syndrome - See Isotretinoin embryopathy like syndrome
• Microtia eye coloboma and imperforation of the nasolacrimal duct
• Microtia, absent patellae, micrognathia syndrome - See Meier-Gorlin syndrome
• Microtia, meatal atresia and conductive deafness
• Microtia-Anotia
• Microvillus atrophy, congenital - See Microvillus inclusion disease
• Microvillus inclusion disease
• MIDAS syndrome - See Microphthalmia with linear skin defects syndrome
• Midbrain stroke syndromes - See Weber syndrome
• MIDD - See Maternally inherited diabetes and deafness
• Middigital hair - See Midphalangeal hair
• Midline cleft of lower lip
• Midline development field defects - See Schisis association
• Midline granulomatosis - See Granulomatosis with polyangiitis
• Midline lethal granuloma
• Midphalangeal hair
• Miescher elastoma - See Elastosis perforans serpiginosa
• Mietens syndrome - See Mietens-Weber syndrome
• Mietens-Weber syndrome
• Mievis Verellen-Dumoulin syndrome - See Short stature syndrome, Brussels type
• Migraine with brainstem aura
• Migraine, familial hemiplegic 1, with progressive cerebellar ataxia - See Familial hemiplegic migraine type 1
• Migraine, familial hemiplegic, 2 - See Familial hemiplegic migraine type 2
• Migraine, familial hemiplegic, 3 - See Familial hemiplegic migraine type 3
• Migrainous syndrome with cerebrospinal fluid pleocytosis - See HaNDL syndrome
• Migrating partial epilepsy of infancy - See Malignant migrating partial seizures of infancy
• Migrating partial seizures in infancy - See Malignant migrating partial seizures of infancy
• Migrating partial seizures of infancy - See Malignant migrating partial seizures of infancy
• Mikaelian syndrome - See Congenital ectodermal dysplasia with hearing loss
• Mikulicz disease (former) - See IgG4-related dacryoadenitis and sialadenitis
• Mikulicz syndrome (former) - See IgG4-related dacryoadenitis and sialadenitis
• Mikulicz's disease (former) - See IgG4-related dacryoadenitis and sialadenitis
• Mild ABCB11 deficiency - See Benign recurrent intrahepatic cholestasis 2
• Mild androgen insensitivity syndrome - See Androgen insensitivity syndrome, mild
• Mild ATP8B1 deficiency - See Benign recurrent intrahepatic cholestasis 1
• Mild form of FAP - See Attenuated familial adenomatous polyposis
• Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies - See Cantu Sanchez-Corona Hernandez syndrome
• Mild nemaline myopathy - See Childhood-onset nemaline myopathy
• Mild osteogenesis imperfecta - See Osteogenesis imperfecta type I
• Mild phenylketonuria
• Mild PKU - See Mild phenylketonuria
• Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis - See Jorgenson Lenz syndrome
• Miliaria, apocrine - See Fox-Fordyce disease
• Miliary hepatocellular adenomatosis - See Nodular regenerative hyperplasia
• Miller syndrome
• Miller-Dieker lissencephaly syndrome - See Miller-Dieker syndrome
• Miller-Dieker syndrome
• Miller-Fisher syndrome
• Milner Khallouf Gibson syndrome
• Milroy disease
• Milroy's disease - See Milroy disease
• MILS - See Mitochondrial DNA-associated Leigh syndrome
• Minamata disease - See Fetal methylmercury syndrome
• MINDS syndrome - See Smith-Kingsmore syndrome
• Mineralocorticoid excess - See Primary hyperaldosteronism - not a rare disease
• Minicore myopathy with external ophthalmoplegia
• Minicore myopathy, antenatal onset, with arthrogryposis
• Minicore myopathy, severe classic form - See Rigid spine syndrome
• Minimal change disease
• Minimal change glomerulopathy - See Minimal change disease
• Minimal change nephrotic syndrome - See Minimal change disease
• Minor streblomicrodactyly, familial - See Familial streblodactyly
• Minoxidil antenatal exposure - See Fetal minoxidil syndrome
• Minoxidil antenatal infection - See Fetal minoxidil syndrome
• Miosis, congenital - See Congenital microcoria
• MIRAGE syndrome
• Mirhosseini-Holmes-Walton syndrome - See Retinopathy pigmentary mental retardation
• Mirizzi syndrome
• Mirizzi's syndrome - See Mirizzi syndrome
• Mirror hands and feet with nasal defects - See Laurin-Sandrow syndrome
• Mirror movements - See Congenital mirror movement disorder
• Mirror polydactyly segmentation and limbs defects
• Mismatch Repair Cancer Syndrome - See Turcot syndrome
• Mismatch Repair Deficiency - See Turcot syndrome
• Misophonia
• Missouri type of spondyloepimetaphyseal dysplasia - See Spondyloepimetaphyseal dysplasia Missouri type
• Mitchell disease (formerly) - See Erythromelalgia
• Mitchell-Riley syndrome - See Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
• Mitochondrial acetoacetyl-CoA Thiolase deficiency - See Beta ketothiolase deficiency
• MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY - See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
• Mitochondrial carbonic anhydrase va deficiency - See Carbonic anhydrase VA deficiency
• Mitochondrial complex deficiency, combined - See Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
• Mitochondrial complex I deficiency
• Mitochondrial complex II deficiency
• Mitochondrial complex III deficiency
• Mitochondrial complex IV deficiency - See Cytochrome c oxidase deficiency
• Mitochondrial complex V deficiency
• Mitochondrial cytopathy - See Kearns-Sayre syndrome
• Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
• Mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• Mitochondrial DNA depletion syndrome 6 - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome 8A - See RRM2B-related mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• Mitochondrial DNA depletion syndrome-5 - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial DNA-associated Leigh syndrome
• Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency - See TMEM70 defect
• Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency - See TMEM70 defect
• Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency - See TMEM70 defect
• Mitochondrial encephalomyopathy aminoacidopathy - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
• Mitochondrial enoyl CoA reductase protein-associated neurodegeneration - See MEPAN syndrome
• Mitochondrial genetic disorders
• Mitochondrial Membrane Protein-Associated Neurodegeneration
• Mitochondrial myopathy with diabetes
• Mitochondrial myopathy with lactic acidosis
• Mitochondrial myopathy, lipid type - See Mitochondrial myopathy with diabetes
• Mitochondrial NADH dehydrogenase component of complex I, deficiency of - See Mitochondrial complex I deficiency
• Mitochondrial neurogastrointestinal encephalopathy syndrome
• Mitochondrial respiratory chain complex II deficiency - See Mitochondrial complex II deficiency
• Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
• Mitochondrial trifunctional protein deficiency
• Mitral atresia
• Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
• Mitral regurgitation, familial - See Mitral valve prolapse, familial, X-linked
• Mitral valve prolapse, familial, autosomal dominant
• Mitral valve prolapse, familial, X-linked
• Mixed cell tumors containing both neural ganglionic cells and neural glial cell components - See Ganglioglioma
• Mixed cerebral palsy - See Cerebral palsy - not a rare disease
• Mixed connective tissue disease
• Mixed dust pneumoconiosis - See Labrador lung
• Mixed hyperlipemia - See Hyperlipoproteinemia type 5
• Mixed lineage acute leukemia - See Acute leukemia of ambiguous lineage
• Mixed müllerian cancer of corpus uteri - See Uterine Carcinosarcoma
• Mixed Mullerian tumor - See Malignant mixed Mullerian tumor
• Mixed phenotype acute leukemia - See Acute leukemia of ambiguous lineage
• Mixed sclerosing bone dystrophy - See Melorheostosis with osteopoikilosis
• Mixed spasmodic dysphonia (type) - See Spasmodic dysphonia
• Mixed tumor, Mullerian - See Malignant mixed Mullerian tumor
• Miyoshi distal myopathy - See Miyoshi myopathy
• Miyoshi myopathy
• MJD - See Spinocerebellar ataxia 3
• MKKS - See McKusick Kaufman syndrome
• MKS - See Meckel syndrome
• MKS2 - See Meckel syndrome type 2
• MKS3 - See Meckel syndrome type 3
• ML 2 - See I cell disease
• ML 3 A - See Mucolipidosis III alpha/beta
• ML 4 - See Mucolipidosis type 4
• ML disorder type 2 - See I cell disease
• ML1 - See Sialidosis, type II
• ML3 - See Mucolipidosis III alpha/beta
• MLASA - See Sideroblastic anemia and mitochondrial myopathy
• MLC - See Megalencephalic leukoencephalopathy with subcortical cysts
• MLD - See Metachromatic leukodystrophy
• MLRD - See Microgastria limb reduction defect
• MLS syndrome - See Microphthalmia with linear skin defects syndrome
• MLT - See Multifocal lymphangioendotheliomatosis with thrombocytopenia
• MM - See Miyoshi myopathy
• MMA - See Methylmalonic acidemia
• MMA cbl A type - See Methylmalonic aciduria, cblA type
• MMAD - See ACTH-independent macronodular adrenal hyperplasia
• MMAS - See Monoclonal mast cell activation syndrome
• MMDD - See Adenosine monophosphate deaminase 1 deficiency
• MMDK - See Mesomelic dysplasia Kantaputra type
• MMEP - See Microphthalmia syndromic 8
• MMEP syndrome - See Microphthalmia syndromic 8
• MMF - See Macrophagic myofasciitis
• MMIH syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
• MMIHS - See Megacystis microcolon intestinal hypoperistalsis syndrome
• MMMT - See Malignant mixed Mullerian tumor
• MMMT of the ovary - See Ovarian carcinosarcoma
• MMN - See Multifocal motor neuropathy
• MMNCB - See Multifocal motor neuropathy
• MMND - See Madras motor neuron disease - not a rare disease
• MMPEI - See Malignant migrating partial seizures of infancy
• MMPSI - See Malignant migrating partial seizures of infancy
• MMR Deficiency - See Turcot syndrome
• MMR syndrome - See Megalocornea-intellectual disability syndrome
• MMRCS - See Turcot syndrome
• MMS - See Medial Medullary Syndrome
• MMT syndrome - See Feingold syndrome
• MND - See Amyotrophic lateral sclerosis
• MNDJ - See Neuropathy, distal hereditary motor, Jerash type
• MNG/CRD/DA - See Daneman Davy Mancer syndrome
• MNGIE - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• MNGIE syndrome - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• MNRI - See Radiation induced meningioma
• MNS - See Melnick-Needles syndrome
• MOBA - See Microphthalmia syndromic 10
• Mobius syndrome - See Moebius syndrome
• Mobius syndrome 2 (formerly) - See Hereditary congenital facial paresis
• MOCOD - See Molybdenum cofactor deficiency
• MODY - See Maturity-onset diabetes of the young
• MODY type 3 - See Maturity-onset diabetes of the young
• MODY glucokinase-related - See Maturity-onset diabetes of the young
• MODY hepatocyte nuclear factor-1-alpha related - See Maturity-onset diabetes of the young
• MODY HNF4A related - See Maturity-onset diabetes of the young
• MODY insulin promoter factor-1 related - See Maturity-onset diabetes of the young
• MODY KLF11 related - See Maturity-onset diabetes of the young
• MODY NEUROD1 related - See Maturity-onset diabetes of the young
• MODY PAX4 related - See Maturity-onset diabetes of the young
• MODY type 1 - See Maturity-onset diabetes of the young
• MODY type 2 - See Maturity-onset diabetes of the young
• MODY type 4 - See Maturity-onset diabetes of the young
• MODY type 5 - See Maturity-onset diabetes of the young
• MODY type 6 - See Maturity-onset diabetes of the young
• MODY type 7 - See Maturity-onset diabetes of the young
• MODY type 9 - See Maturity-onset diabetes of the young
• MODY1 - See Maturity-onset diabetes of the young
• MODY2 - See Maturity-onset diabetes of the young
• MODY3 - See Maturity-onset diabetes of the young
• MODY4 - See Maturity-onset diabetes of the young
• MODY5 - See Maturity-onset diabetes of the young
• MODY6 - See Maturity-onset diabetes of the young
• MODY7 - See Maturity-onset diabetes of the young
• MODY8 - See Maturity-onset diabetes of the young
• MODY9 - See Maturity-onset diabetes of the young
• Moebius axonal neuropathy hypogonadism
• Moebius sequence - See Moebius syndrome
• Moebius sequence, Robin complex, and hypotonia - See Carey-Fineman-Ziter syndrome
• Moebius syndrome
• Moebius syndrome 2 (formerly) - See Hereditary congenital facial paresis
• Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type - See Moebius axonal neuropathy hypogonadism
• Moerman Van den berghe Fryns syndrome - See Fryns syndrome
• Moersch-Woltman syndrome - See Stiff person syndrome
• Moeschler Clarren syndrome - See Microsomia hemifacial radial defects
• MOGS-CDG - See MOGS-CDG (CDG-IIb)
• MOGS-CDG (CDG-IIb)
• Mohr syndrome - See Orofaciodigital syndrome 2
• Mohr-Tranebjaerg syndrome
• Mohr-Wriedt type brachydactyly - See Brachydactyly type A2
• Molar I reinclusion - See Ankylosis of teeth
• Molar pregnancy - See Hydatidiform mole
• Mollaret meningitis
• Mollaret's meningitis - See Mollaret meningitis
• Moloney syndrome
• Molybdenum cofactor deficiency
• MOMO syndrome
• MONA syndrome - See Multicentric osteolysis, nodulosis and arthropathy
• Monday morning fever - See Byssinosis
• Mondini dysplasia
• Mondor disease
• Mondor's disease - See Mondor disease
• Mondor's syndrome of superficial thrombophlebitis - See Mondor disease
• Monilethrix
• Monkeypox
• Monkeypox virus infection - See Monkeypox
• Monoamine oxidase A deficiency
• Monocarboxylate transporter-8 deficiency - See Allan-Herndon-Dudley syndrome
• Monoclonal gammopathy of undetermined significance
• Monoclonal mast cell activation syndrome
• Monoclonal MCAD - See Monoclonal mast cell activation syndrome
• Monocyte - B - natural killer - dendritic cell deficiency - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Monocytopenia and mycobacterial infection syndrome - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Monocytopenia with susceptibility to infections - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Monogenic diabetes - not a rare disease
• MONOMAC - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Monomelic amyotrophy
• Monomodal visual amnesia - See Agnosia
• Monomorphic clear cell tumor - See Epithelial-myoepithelial carcinoma
• Monomorphic NK-cell lymphoma - See Blastic plasmacytoid dendritic cell
• Mononen Karnes Senac syndrome - See Brachydactyly Mononen type
• Mononeuritis multiplex
• Monosaccharide malabsorption - See Glucose-galactose malabsorption
• Monosomy 10p - See Chromosome 10p deletion
• Monosomy 10q - See Chromosome 10q deletion
• Monosomy 10q22.3q23.3 - See 10q22.3q23 microdeletion syndrome
• Monosomy 11p - See Chromosome 11p deletion
• Monosomy 11q - See Chromosome 11q deletion
• Monosomy 12p - See Chromosome 12p deletion
• Monosomy 12q - See Chromosome 12q deletion
• Monosomy 12q14 - See 12q14 microdeletion syndrome
• Monosomy 13q - See Chromosome 13q deletion
• Monosomy 14q - See Chromosome 14q deletion
• Monosomy 14q22q23 - See Frias syndrome
• Monosomy 14q22-q23 - See Frias syndrome
• Monosomy 15q - See Chromosome 15q deletion
• Monosomy 15q11.2 - See 15q11.2 microdeletion
• Monosomy 15q24 - See 15q24 microdeletion syndrome
• Monosomy 16p - See Chromosome 16p deletion
• Monosomy 16p11.2 - See 16p11.2 deletion syndrome
• Monosomy 16q - See Chromosome 16q deletion
• Monosomy 16q24.3 - See 16q24.3 microdeletion syndrome
• Monosomy 17p - See Chromosome 17p deletion
• Monosomy 17q - See Chromosome 17q deletion
• Monosomy 17q11 - See Chromosome 17q11.2 deletion syndrome
• Monosomy 17q12 - See 17q12 deletion syndrome
• Monosomy 17q21.31 - See Koolen de Vries syndrome
• Monosomy 17q23.1q23.2 - See 17q23.1q23.2 microdeletion syndrome
• Monosomy 17q23.1-q23.2 - See 17q23.1q23.2 microdeletion syndrome
• Monosomy 18 mosaicism - See Mosaic monosomy 18
• Monosomy 18p - See Chromosome 18p deletion
• Monosomy 18q syndrome - See Distal chromosome 18q deletion syndrome
• Monosomy 18q syndrome - See Proximal chromosome 18q deletion syndrome
• Monosomy 19p - See Chromosome 19p deletion
• Monosomy 19p13.12 - See 19p13.12 microdeletion syndrome
• Monosomy 19q - See Chromosome 19q deletion
• Monosomy 1p - See Chromosome 1p deletion
• Monosomy 1p36 syndrome - See Chromosome 1p36 deletion syndrome
• Monosomy 1q - See Chromosome 1q deletion
• Monosomy 1q21.1 - See 1q21.1 microdeletion syndrome
• Monosomy 1q41-q42 - See Chromosome 1q41-q42 deletion syndrome
• Monosomy 1q44 - See 1q44 microdeletion syndrome
• Monosomy 20p - See Chromosome 20p deletion
• Monosomy 20p12.3 - See 20p12.3 microdeletion syndrome
• Monosomy 20q - See Chromosome 20q deletion
• Monosomy 21q - See Chromosome 21q deletion
• Monosomy 22 mosaicism - See Mosaic monosomy 22
• Monosomy 22q - See Chromosome 22q deletion
• Monosomy 22q13 - See 22q13.3 deletion syndrome
• Monosomy 22q13.3 - See 22q13.3 deletion syndrome
• Monosomy 2p - See Chromosome 2p deletion
• Monosomy 2p15p16.1 - See 2p15p16.1 microdeletion syndrome
• Monosomy 2p15-p16.1 - See 2p15p16.1 microdeletion syndrome
• Monosomy 2q - See Chromosome 2q deletion
• Monosomy 2q23.1 - See 2q23.1 microdeletion syndrome
• Monosomy 2q24 - See Chromosome 2q24 microdeletion syndrome
• Monosomy 2q32-q33 - See SATB2-associated syndrome
• Monosomy 3p - See Chromosome 3p deletion
• Monosomy 3pter - See Chromosome 3p- syndrome
• Monosomy 3q - See Chromosome 3q deletion
• Monosomy 3q29 - See 3q29 microdeletion syndrome
• Monosomy 3qter - See 3q29 microdeletion syndrome
• Monosomy 4p - See Chromosome 4p deletion
• Monosomy 4q - See Chromosome 4q deletion
• Monosomy 5p - See Chromosome 5p deletion
• Monosomy 5p - See Cri du chat syndrome
• Monosomy 5q - See Chromosome 5q deletion
• Monosomy 5q14.3 - See 5q14.3 microdeletion syndrome
• Monosomy 6p - See Chromosome 6p deletion
• Monosomy 6q - See Chromosome 6q deletion
• Monosomy 6q25 - See Chromosome 6q25 microdeletion syndrome
• Monosomy 7p - See Chromosome 7p deletion
• Monosomy 7q - See Chromosome 7q deletion
• Monosomy 7q11.23 - See Williams syndrome
• Monosomy 8p - See Chromosome 8p deletion
• Monosomy 8p23.1 - See Chromosome 8p23.1 deletion
• Monosomy 8q - See Chromosome 8q deletion
• Monosomy 8q24.1 - See Trichorhinophalangeal syndrome type 2
• Monosomy 9p - See Chromosome 9p deletion
• Monosomy 9q - See Chromosome 9q deletion
• Monosomy Xp - See Chromosome Xp deletion
• Monosomy Xq - See Chromosome Xq deletion
• Montefiore syndrome
• Montgomery syndrome - See Xanthoma disseminatum
• MOPD 1 - See Microcephalic osteodysplastic primordial dwarfism type 1
• MOPD 2 - See Microcephalic osteodysplastic primordial dwarfism type 2
• MOPD II - See Microcephalic osteodysplastic primordial dwarfism type 2
• Moran-Barroso Syndrome - See Orofaciodigital syndrome 12
• Morgagni-Stewart-Morel syndrome
• Morgellons
• Morgellon's - See Morgellons
• MORM syndrome
• Morning glory disc anomaly - See Morning glory syndrome
• Morning glory syndrome
• Morphea
• Morquio A disease - See Mucopolysaccharidosis type IVA
• Morquio disease - See Mucopolysaccharidosis type IV
• Morquio disease type A - See Mucopolysaccharidosis type IVA
• Morquio syndrome A - See Mucopolysaccharidosis type IVA
• Morquio syndrome B
• Morsch Woltman syndrome - See Stiff person syndrome
• Morse-Rawnsley-Sargent syndrome
• Morvan disease - See Hereditary sensory and autonomic neuropathy type 2
• Morvan's fibrillary chorea
• Mosaic monosomy 18
• Mosaic monosomy 22
• Mosaic monosomy chromosome 18 - See Mosaic monosomy 18
• Mosaic monosomy chromosome 22 - See Mosaic monosomy 22
• Mosaic tetrasomy 9p - See Tetrasomy 9p
• Mosaic triploidy - See Diploid-triploid mosaicism
• Mosaic trisomy 10 - See Chromosome 10, uniparental disomy
• Mosaic trisomy 13
• Mosaic trisomy 14
• Mosaic trisomy 16 - See Chromosome 16 trisomy
• Mosaic trisomy 1q12 q21 - See Chromosome 1, uniparental disomy 1q12 q21
• Mosaic trisomy 2 - See Trisomy 2 mosaicism
• Mosaic trisomy 20 - See Chromosome 20 trisomy
• Mosaic trisomy 22
• Mosaic trisomy 6
• Mosaic trisomy 7
• Mosaic trisomy 8
• Mosaic trisomy 9
• Mosaic trisomy chromosome 13 - See Mosaic trisomy 13
• Mosaic trisomy chromosome 14 - See Mosaic trisomy 14
• Mosaic trisomy chromosome 22 - See Mosaic trisomy 22
• Mosaic trisomy chromosome 7 - See Mosaic trisomy 7
• Mosaic trisomy chromosome 8 - See Mosaic trisomy 8
• Mosaic trisomy chromosome 9 - See Mosaic trisomy 9
• Mosaic trisomy of chromosome 5 - See Chromosome 5, uniparental disomy
• Mosaic variegated aneuploidy syndrome
• Moschowitz syndrome - See Thrombotic thrombocytopenic purpura, acquired
• MOTA syndrome - See Manitoba oculotrichoanal syndrome
• Mother-to-child transmission of toxoplasmosis - See Congenital toxoplasmosis - not a rare disease
• Motor neurone disease - See Amyotrophic lateral sclerosis
• Motor neuropathy, distal, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
• Mounier Kuhn syndrome - See Mounier-Kuhn syndrome
• Mounier-Kuhn syndrome
• Mountain sickness - See Acute mountain sickness
• Mousa Al din Al Nassar syndrome
• Mouth and genital ulcers with inflamed cartilage - See MAGIC syndrome
• Mouth and genital ulcers-inflamed cartilage syndrome - See MAGIC syndrome
• Mowat-Wilson syndrome
• Moyamoya disease
• Moyamoya syndrome - See Moyamoya disease
• Moynahan alopecia syndrome - See Alopecia epilepsy oligophrenia syndrome of Moynahan
• Moynahan syndrome - See Alopecia epilepsy oligophrenia syndrome of Moynahan
• MPAN - See Mitochondrial Membrane Protein-Associated Neurodegeneration
• MPD2 - See Distal myopathy with vocal cord weakness
• MPDU1-CDG - See MPDU1-CDG (CDG-If)
• MPDU1-CDG (CDG-If) - See MPDU1-CDG (CDG-If)
• MPDU1-CDG (CDG-If)
• MPEI - See Malignant migrating partial seizures of infancy
• MPGN - See Membranoproliferative glomerulonephritis
• MPGN 2 - See Dense deposit disease
• MPI deficiency - See MPI-CDG (CDG-Ib)
• MPI-CDG (CDG-Ib)
• MPI-CDG (CDG-Ib) - See MPI-CDG (CDG-Ib)
• mPKU - See Mild phenylketonuria
• MPKU - See Maternal hyperphenylalaninemia
• MPNST - See Malignant peripheral nerve sheath tumor
• MPO deficiency - See Myeloperoxidase deficiency
• MPPC syndrome - See Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
• MPPH syndrome - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
• MPS - See Mucopolysaccharidosis
• MPS 1 - See Mucopolysaccharidosis type I
• MPS 2 - See Mucopolysaccharidosis type II
• MPS 3A - See Mucopolysaccharidosis type IIIA
• MPS 3B - See Mucopolysaccharidosis type IIIB
• MPS 3C - See Mucopolysaccharidosis type IIIC
• MPS 3D - See Mucopolysaccharidosis type IIID
• MPS 4A - See Mucopolysaccharidosis type IVA
• MPS 4B - See Morquio syndrome B
• MPS 6 - See Mucopolysaccharidosis type VI
• MPS 7 - See Mucopolysaccharidosis type VII
• MPS I - See Mucopolysaccharidosis type I
• MPS II - See Mucopolysaccharidosis type II
• MPS IIIA - See Mucopolysaccharidosis type IIIA
• MPS IIIB - See Mucopolysaccharidosis type IIIB
• MPS IIIC - See Mucopolysaccharidosis type IIIC
• MPS IIID - See Mucopolysaccharidosis type IIID
• MPS IVA - See Mucopolysaccharidosis type IVA
• MPS IVB - See Morquio syndrome B
• MPS V, FORMERLY - See Scheie syndrome
• MPS VI - See Mucopolysaccharidosis type VI
• MPS VII - See Mucopolysaccharidosis type VII
• MPS1H - See Hurler syndrome
• MPS1-H - See Hurler syndrome
• MPS1H/S - See Hurler–Scheie syndrome
• MPS1-HS - See Hurler–Scheie syndrome
• MPS1S - See Scheie syndrome
• MPS1-S - See Scheie syndrome
• MPS3A - See Mucopolysaccharidosis type IIIA
• MPS3C - See Mucopolysaccharidosis type IIIC
• MPS3D - See Mucopolysaccharidosis type IIID
• MPS4 - See Mucopolysaccharidosis type IV
• MPS4A - See Mucopolysaccharidosis type IVA
• MPS5, FORMERLY - See Scheie syndrome
• MPSI - See Malignant migrating partial seizures of infancy
• MPSIH - See Hurler syndrome
• MPSIH/S - See Hurler–Scheie syndrome
• MPSIII - See Mucopolysaccharidosis type III
• MPSIIIA - See Mucopolysaccharidosis type IIIA
• MPSIIIC - See Mucopolysaccharidosis type IIIC
• MPSIIID - See Mucopolysaccharidosis type IIID
• MPSIS - See Scheie syndrome
• MPSIV - See Mucopolysaccharidosis type IV
• MPSIVA - See Mucopolysaccharidosis type IVA
• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MPZ-related intermediate Charcot-Marie-Tooth neuropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
• MRCLS - See Myxoid liposarcoma
• MRD - See Multicystic renal dysplasia, bilateral
• MRD5 - See SYNGAP1-related non-syndromic intellectual disability
• MRKH syndrome - See Mullerian aplasia
• MROS - See Melkersson-Rosenthal syndrome
• MRS - See Melkersson-Rosenthal syndrome
• MRX14 - See Mental retardation, X-linked 14
• MRXS Christianson - See Christianson syndrome
• MRXS1 - See Partington syndrome
• MRXS11 - See Mental retardation X-linked syndromic 11
• MRXS13 - See PPM-X syndrome
• MRXS2 - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• MRXS3 - See Renpenning syndrome 1
• MRXS5 - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
• MRXS6 - See Wilson-Turner syndrome
• MRXS7 - See Mental retardation X-linked syndromic 7
• MRXS8 - See Renpenning syndrome 1
• MRXSAB - See X-linked intellectual disability, Abidi type
• MRXSL - See MECP2 duplication syndrome
• MRXSSD - See X-linked intellectual disability, Siderius type
• MS - See Multiple sclerosis - not a rare disease
• MS pediatric - See Pediatric multiple sclerosis
• MSA - See Multiple system atrophy
• MSBD syndrome
• MSBD syndrome - See Melorheostosis with osteopoikilosis
• MSD - See Multiple sulfatase deficiency
• Mseleni joint disease - See Spondyloepimetaphyseal dysplasia, Handigodu type - not a rare disease
• MSK - See Medullary sponge kidney
• MSM syndrome - See Morgagni-Stewart-Morel syndrome
• MSMD - See Atypical mycobacteriosis, familial
• MSMD - See Mendelian susceptibility to mycobacterial diseases
• MSMD due to complete IL12RB1 deficiency - See IL12RB1 deficiency
• MSMD due to complete interleukin 12 receptor beta 1 deficiency - See IL12RB1 deficiency
• MSPKA - See Megalocornea - spherophakia - secondary glaucoma
• MSS - See Marinesco-Sjogren syndrome
• MSSD - See Syndactyly type 9
• MSSE - See Multiple self healing squamous epithelioma
• MSTD - See Frontotemporal dementia
• MSUD - See Maple syrup urine disease
• MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex - See Maple syrup urine disease type 1B
• MSUD type 1A - See Maple syrup urine disease type 1A
• MSUD type 2 - See Maple syrup urine disease type 2
• MSUD type 3 (formerly) - See Maple syrup urine disease type 1B
• MSUD type IB - See Maple syrup urine disease type 1B
• MSUD2 - See Maple syrup urine disease type 2
• mtDNA depletion syndrome - See Mitochondrial DNA depletion syndrome
• mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
• mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• MTDPS13 - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• MTDPS6 - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MTHFR gene variant - not a rare disease
• MTP deficiency - See Abetalipoproteinemia
• MTS - See Mohr-Tranebjaerg syndrome
• MUC1-related autosomal dominant medullary cystic kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• MUC1-related autosomal dominant tubulointerstitial kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• Mucha-Habermann disease - See Pityriasis lichenoides et varioliformis acuta
• Mucin-1 kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• Mucinous adenocarcinoma - See Adenocarcinoma of the appendix
• Mucinous carcinoid - See Goblet cell carcinoid
• MUCI-related ADTKD - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• Muckle Wells syndrome - See Muckle-Wells syndrome
• Muckle-Wells syndrome
• Mucocutaneous lymph node syndrome - See Kawasaki disease
• Mucoepidermoid carcinoma
• Mucoepithelial dysplasia, hereditary - See Hereditary mucoepithelial dysplasia
• Mucolipidosis 2 - See I cell disease
• Mucolipidosis III alpha/beta
• Mucolipidosis type 1 - See Sialidosis, type II
• Mucolipidosis type 3A - See Mucolipidosis III alpha/beta
• Mucolipidosis type 4
• Mucolipidosis type IV - See Mucolipidosis type 4
• Mucopolysaccharidosis
• Mucopolysaccharidosis Ih - See Hurler syndrome
• Mucopolysaccharidosis Ih/s - See Hurler–Scheie syndrome
• Mucopolysaccharidosis Is - See Scheie syndrome
• Mucopolysaccharidosis type 1H - See Hurler syndrome
• Mucopolysaccharidosis type 1H/S - See Hurler–Scheie syndrome
• Mucopolysaccharidosis type 1S - See Scheie syndrome
• Mucopolysaccharidosis type 3 - See Mucopolysaccharidosis type III
• Mucopoly-saccharidosis type 3 - See Mucopolysaccharidosis type III
• Mucopolysaccharidosis type 3A - See Mucopolysaccharidosis type IIIA
• Mucopoly-saccharidosis type 3A - See Mucopolysaccharidosis type IIIA
• Mucopoly-saccharidosis type 3B - See Mucopolysaccharidosis type IIIB
• Mucopolysaccharidosis type 3C - See Mucopolysaccharidosis type IIIC
• Mucopoly-saccharidosis type 3C - See Mucopolysaccharidosis type IIIC
• Mucopolysaccharidosis type 3D - See Mucopolysaccharidosis type IIID
• Mucopoly-saccharidosis type 3D - See Mucopolysaccharidosis type IIID
• Mucopolysaccharidosis type 4 - See Mucopolysaccharidosis type IV
• Mucopolysaccharidosis type 4A - See Mucopolysaccharidosis type IVA
• Mucopolysaccharidosis type 6 - See Mucopolysaccharidosis type VI
• Mucopolysaccharidosis type 7 - See Mucopolysaccharidosis type VII
• Mucopolysaccharidosis type I
• Mucopolysaccharidosis type IH - See Hurler syndrome
• Mucopolysaccharidosis type IH/S - See Hurler–Scheie syndrome
• Mucopolysaccharidosis type II
• Mucopolysaccharidosis type III
• Mucopolysaccharidosis type IIIA
• Mucopolysaccharidosis type IIIB
• Mucopolysaccharidosis type IIIC
• Mucopolysaccharidosis type IIID
• Mucopolysaccharidosis type IS - See Scheie syndrome
• Mucopolysaccharidosis type IV
• Mucopolysaccharidosis type IVA
• Mucopolysaccharidosis type IVB - See Morquio syndrome B
• MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY - See Scheie syndrome
• Mucopolysaccharidosis type VI
• Mucopoly-saccharidosis type VI - See Mucopolysaccharidosis type VI
• Mucopolysaccharidosis type VII
• Mucormycosis
• Mucosal lacerations - gastroesophageal junction - See Mallory-Weiss syndrome
• Mucosal neuroma syndrome - See Multiple endocrine neoplasia type 2B
• Mucosulfatidosis - See Multiple sulfatase deficiency
• Mucoviscidosis - See Cystic fibrosis
• Mud fever - See Leptospirosis
• Muenke nonsyndromic coronal craniosynostosis - See Muenke Syndrome
• Muenke Syndrome
• MUHH - See Marie Unna congenital hypotrichosis
• Muir-Torre syndrome
• Mulberry teeth - See Hutchinson incisors
• Mulibrey Nanism
• Muller Barth Menger syndrome
• Mullerian adenosarcoma of the uterus - See Adenosarcoma of the uterus
• Müllerian agenesis - See Mullerian aplasia
• Mullerian aplasia
• Mullerian aplasia with hypoplastic thumbs - See Michels Caskey syndrome
• Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities - See Michels Caskey syndrome
• Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly - See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
• Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies - See MURCS association
• Mullerian dysgenesis - See Mullerian aplasia
• Multicentric carpotarsal osteolysis syndrome
• Multicentric carpo-tarsal osteolysis with or without nephropathy - See Multicentric osteolysis nephropathy
• Multicentric carpo-tarsal osteolysis with or without nephropathy - See Multicentric carpotarsal osteolysis syndrome
• Multicentric Castleman Disease
• Multicentric giant lymph node hyperplasia - See Multicentric Castleman Disease
• Multicentric osteolysis nephropathy
• Multicentric osteolysis, nodulosis and arthropathy
• Multicentric plasma cell variant of Castleman's disease - See Multicentric Castleman Disease
• Multicentric reticulohistiocytosis
• Multicore disease
• Multicore myopathy with external ophthalmoplegia - See Minicore myopathy with external ophthalmoplegia
• Multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism - See Chudley Rozdilsky syndrome
• Multicore myopathy, antenatal onset, with arthrogryposis - See Minicore myopathy, antenatal onset, with arthrogryposis
• Multicore myopathy, severe classic form - See Rigid spine syndrome
• Multicystic renal dysplasia, bilateral
• Multifocal acquired demyelinating sensory and motor neuropathy - See Lewis-Sumner syndrome
• Multifocal choroiditis
• Multifocal fibrosclerosis - See IgG4-related disease
• Multifocal fibrosclerosis
• Multifocal idiopathic fibrosclerosis - See IgG4-related disease
• Multifocal inner choroiditis - See Punctate inner choroidopathy
• Multifocal lymphangioendotheliomatosis with thrombocytopenia
• Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - See Multifocal lymphangioendotheliomatosis with thrombocytopenia
• Multifocal motor neuropathy
• Multifocal motor neuropathy with conduction block - See Multifocal motor neuropathy
• Multifocal osteomyelitis, chronic - See Chronic recurrent multifocal osteomyelitis
• Multifocal placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
• Multifocal ventricular premature beats - See Catecholaminergic polymorphic ventricular tachycardia
• Multi-infarct dementia - See Binswanger's disease
• Multilocular peritoneal cysts - See Benign multicystic peritoneal mesothelioma
• Multilocular peritoneal inclusion cysts - See Benign multicystic peritoneal mesothelioma
• Multiminicore disease with external ophthalmoplegia - See Minicore myopathy with external ophthalmoplegia
• Multiminicore disease, severe classic form - See Rigid spine syndrome
• Multiminicore myopathy, antenatal onset, with arthrogryposis - See Minicore myopathy, antenatal onset, with arthrogryposis
• Multinodular goiter - cystic kidney - polydactyly - See Daneman Davy Mancer syndrome
• Multinodular goiter, cystic renal disease, and digital anomalies - See Daneman Davy Mancer syndrome
• Multiocre myopathy - See Multicore disease
• Multiple Acyl-CoA dehydrogenase deficiency - See Glutaric acidemia type II
• Multiple Angiomas and Endochondromas - See Maffucci syndrome
• Multiple basal cell carcinoma - See Basal cell carcinoma, multiple
• Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies - See Nevoid basal cell carcinoma syndrome
• Multiple cafe´-au-lait spots - See Multiple café-au-lait spots
• Multiple cafe´-au-lait syndrome - See Multiple café-au-lait spots
• Multiple cafe-au-lait spots - See Multiple café-au-lait spots
• Multiple café-au-lait spots
• Multiple carboxylase deficiency
• Multiple cartilaginous enchondroses - See Ollier disease
• Multiple congenital anomalies - hypotonia - seizures syndrome - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
• Multiple congenital anomalies, mental retardation and progressive skeletal sclerosis - See Lenz Majewski hyperostotic dwarfism
• Multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs - See Elliott Ludman Teebi syndrome
• Multiple congenital anomalies-hypotonia-seizures syndrome
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
• Multiple congenital anomalies-hypotonia-seizures syndrome type 2
• Multiple contracture syndrome, Finnish type - See Lethal congenital contracture syndrome 1
• Multiple contracture syndrome, Israeli Bedouin type - See Lethal congenital contracture syndrome 2
• Multiple cutaneous and uterine leiomyomata - See Hereditary leiomyomatosis and renal cell cancer
• Multiple cutaneous leiomyomata - See Hereditary leiomyomatosis and renal cell cancer
• Multiple diaphyseal sclerosis - See Ribbing disease
• Multiple dysmorphic features and pancytopenia - See Sackey Sakati Aur syndrome
• Multiple enchondromatosis - See Ollier disease
• Multiple endocrine deficiency syndrome, type 2 - See Autoimmune polyglandular syndrome type 2
• Multiple endocrine neoplasia type 1
• Multiple endocrine neoplasia type 2
• Multiple endocrine neoplasia type 2A
• Multiple endocrine neoplasia type 2B
• Multiple endocrine neoplasia, type 3 (formerly) - See Multiple endocrine neoplasia type 2B
• Multiple epiphyseal dysplasia
• Multiple epiphyseal dysplasia 1
• Multiple epiphyseal dysplasia 2
• Multiple epiphyseal dysplasia 3
• Multiple epiphyseal dysplasia 4
• Multiple epiphyseal dysplasia 5
• Multiple epiphyseal dysplasia 6
• Multiple epiphyseal dysplasia COMP-related - See Multiple epiphyseal dysplasia 1
• Multiple epiphyseal dysplasia with bilayered patellae - See Multiple epiphyseal dysplasia 4
• Multiple epiphyseal dysplasia with clubfoot - See Multiple epiphyseal dysplasia 4
• Multiple epiphyseal dysplasia with double-layered patella - See Multiple epiphyseal dysplasia 4
• Multiple epiphyseal dysplasia, autosomal recessive - See Multiple epiphyseal dysplasia 4
• Multiple epiphyseal dysplasia, MATN3 related - See Multiple epiphyseal dysplasia 5
• Multiple exostoses - See Hereditary multiple osteochondromas
• Multiple exostoses with spastic tetraparesis - See Spasticity multiple exostoses
• Multiple familial trichoepithelioma
• Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma
• Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma
• Multiple fibrofolliculoma familial
• Multiple hamartoma syndrome - See Cowden syndrome
• Multiple lentigines syndrome - See LEOPARD syndrome
• Multiple lipomatosis - See Familial multiple lipomatosis
• Multiple mastocytoma - See Cutaneous mastocytoma
• Multiple mitochondrial dysfunctions syndrome
• Multiple myeloma
• Multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects - See Teeth noneruption of with maxillary hypoplasia and genu valgum
• Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects - See Stoelinga de Koomen Davis syndrome
• Multiple ophthalmic anomalies and digital hypoplasia - See Oculo digital syndrome
• Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus - See Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
• Multiple osseous dysplasia, characteristic ear shape, and short stature - See Auriculoosteodysplasia
• Multiple pituitary hormone deficiencies, genetic forms - See Combined pituitary hormone deficiencies, genetic forms
• Multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Multiple pterygium syndrome Escobar type
• Multiple pterygium syndrome lethal type
• Multiple pterygium syndrome nonlethal type - See Multiple pterygium syndrome Escobar type
• Multiple pterygium syndrome X-linked
• Multiple pterygium syndrome, Aslan type - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Multiple respiratory chain enzyme deficiencies
• Multiple sclerosis - not a rare disease
• Multiple sclerosis, pediatric - See Pediatric multiple sclerosis
• Multiple sclerosis-like disorder - See Autosomal dominant leukodystrophy with autonomic disease
• Multiple sebaceous cysts - See Steatocystoma multiplex
• Multiple self healing squamous epithelioma
• Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk - See Birdshot chorioretinopathy
• Multiple sulfatase deficiency
• Multiple symmetric lipomatosis
• Multiple synostoses syndrome 1
• Multiple synostoses syndrome 2
• Multiple system atrophy
• Multiple system tauopathy with presenile dementia - See Frontotemporal dementia
• Multiplex steatocystoma - See Steatocystoma multiplex
• Multisynostotic osteodysgenesis with long bone fractures - See Antley Bixler syndrome
• Multisystem inflammatory disease, neonatal-onset - See Neonatal Onset Multisystem Inflammatory disease
• Multisystemic smooth muscle dysfunction syndrome
• Mulvihill-Smith syndrome - See Progeroid short stature with pigmented nevi
• Mumps
• Munchausen by proxy syndrome
• Munchausen syndrome by proxy - See Munchausen by proxy syndrome
• Mungan syndrome
• MURCS association
• Murine typhus - See Typhus
• Murk Jansen type metaphyseal chondrodysplasia - See Jansen type metaphyseal chondrodysplasia
• Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death - See Cold-induced sweating syndrome
• Muscle core disease - See Central core disease
• Muscle eye brain disease
• Muscle glycogen phosphorylase deficiency - See Glycogen storage disease type 5
• Muscle glycogen synthase deficiency - See Glycogen storage disease type 0, muscle
• Muscle phosphofructokinase deficiency - See Glycogen storage disease type 7
• Muscle phosphoglycerate mutase deficiency - See Phosphoglycerate mutase deficiency
• Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities - See Satoyoshi syndrome
• Muscle-eye-brain disease - See Muscle eye brain disease
• Muscle-liver-brain-eye nanism - See Mulibrey Nanism
• Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
• Muscular atrophy, infantile - See Spinal muscular atrophy 1
• Muscular atrophy, juvenile - See Spinal muscular atrophy type 3
• Muscular atrophy, spinal, infantile chronic form - See Spinal muscular atrophy type 2
• Muscular atrophy, spinal, intermediate type - See Spinal muscular atrophy type 2
• Muscular central core disease - See Central core disease
• Muscular dystrophy
• Muscular dystrophy Hutterite type - See Limb-girdle muscular dystrophy type 2H
• Muscular dystrophy limb girdle type 2A, Erb type
• Muscular dystrophy limb-girdle type 2H - See Limb-girdle muscular dystrophy type 2H
• Muscular dystrophy limb-girdle with alpha-sarcoglycan - See Limb-girdle muscular dystrophy, type 2D
• Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency - See Limb-girdle muscular dystrophy type 2E
• Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency - See Limb-girdle muscular dystrophy type 2F
• Muscular dystrophy pseudohypertrophic progressive, Becker type - See Becker muscular dystrophy
• Muscular dystrophy white matter spongiosis
• Muscular dystrophy, Becker type - See Becker muscular dystrophy
• Muscular dystrophy, benign congenital - See Bethlem myopathy
• Muscular dystrophy, congenital progressive, with mental retardation - See Fukuyama type muscular dystrophy
• MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY - See Congenital muscular dystrophy
• Muscular dystrophy, congenital, due to ITGA7 deficiency - See Congenital muscular dystrophy
• Muscular dystrophy, congenital, Fukuyama type - See Fukuyama type muscular dystrophy
• Muscular dystrophy, congenital, infantile with cataract and hypogonadism
• MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED - See Congenital muscular dystrophy
• Muscular dystrophy, congenital, megaconial type
• Muscular dystrophy, congenital, merosin positive with early spine rigidity - See Rigid spine syndrome
• Muscular dystrophy, congenital, merosin-deficient - See Congenital muscular dystrophy type 1A
• Muscular dystrophy, congenital, merosin-positive
• Muscular dystrophy, congenital, with central nervous system involvement - See Fukuyama type muscular dystrophy
• Muscular dystrophy, distal, late onset, autosomal recessive - See Miyoshi myopathy
• Muscular dystrophy, Duchenne - See Duchenne muscular dystrophy
• Muscular dystrophy, Duchenne-like - See Limb-girdle muscular dystrophy, type 2C
• Muscular dystrophy, facioscapulohumeral - See Facioscapulohumeral muscular dystrophy
• Muscular dystrophy, facioscapulohumeral, type 1a - See Facioscapulohumeral muscular dystrophy
• Muscular dystrophy, limb-girdle, type 1F - See Limb-girdle muscular dystrophy
• Muscular dystrophy, limb-girdle, type 1H - See Limb-girdle muscular dystrophy
• Muscular dystrophy, limb-girdle, type 2G - See Limb-girdle muscular dystrophy, type 2G
• Muscular dystrophy, limb-girdle, type 2J - See Limb-girdle muscular dystrophy
• Muscular dystrophy, limb-girdle, type 2L - See Limb-girdle muscular dystrophy
• MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P - See Limb-girdle muscular dystrophy type 1A
• Muscular dystrophy, limb-girdle, type 2Q - See Limb-girdle muscular dystrophy
• Muscular dystrophy, limb-girdle, type 2S - See Limb-girdle muscular dystrophy
• Muscular dystrophy, limb-girdle, type 3 - See Limb-girdle muscular dystrophy type 2B
• Muscular dystrophy, limb-girdle, type IC - See Limb-girdle muscular dystrophy
• Muscular dystrophy, oculogastrointestinal - See Familial visceral myopathy with external ophthalmoplegia
• Muscular dystrophy, oculopharyngeal - See Oculopharyngeal muscular dystrophy
• Muscular dystrophy, pelvofemoral - See Limb-girdle muscular dystrophy type 2A
• Muscular dystrophy, proximal, type 1A - See Limb-girdle muscular dystrophy type 1A
• Muscular dystrophy, proximal, type 1B - See Limb-girdle muscular dystrophy type 1B
• Muscular dystrophy, pseudohypertrophic progressive, Duchenne type - See Duchenne muscular dystrophy
• Muscular dystrophy, tardive Emery-Dreifuss type, with contractures - See Emery-Dreifuss muscular dystrophy, X-linked
• Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures - See Emery-Dreifuss muscular dystrophy
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 - See Limb-girdle muscular dystrophy
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 - See Limb-girdle muscular dystrophy
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 - See Limb-girdle muscular dystrophy
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 - See Limb-girdle muscular dystrophy
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 - See Limb-girdle muscular dystrophy
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 - See Limb-girdle muscular dystrophy type 2I
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 - See Limb-girdle muscular dystrophy type 1A
• Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 - See Muscle eye brain disease
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED - See Limb-girdle muscular dystrophy type 1A
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED - See Limb-girdle muscular dystrophy
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED - See Limb-girdle muscular dystrophy
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED - See Limb-girdle muscular dystrophy
• Muscular fibrosis multifocal obstructed vessels
• Muscular phosphorylase kinase deficiency
• Musculocontractural EDS - See Musculocontractural Ehlers-Danlos syndrome
• Musculocontractural Ehlers-Danlos syndrome
• Mutagen sensitivity
• Mutchinick syndrome - See Intellectual deficit Buenos-Aires type
• Mutilating keratoderma - See Vohwinkel syndrome
• MVA - See Mevalonic aciduria
• MVA syndrome - See Mosaic variegated aneuploidy syndrome
• MVP - See Mitral valve prolapse, familial, X-linked
• MWS - See Marden-Walker syndrome
• Myalgic encephalomyelitis - not a rare disease
• Myasthenia familial infantile - See Congenital myasthenic syndrome with episodic apnea
• Myasthenia gravis
• Myasthenia gravis congenital
• Myasthenia gravis familial infantile 2 (formerly) - See Congenital myasthenic syndrome with episodic apnea
• Myasthenia gravis pseudoparalytica - See Myasthenia gravis congenital
• Myasthenia gravis, limb-girdle
• Myasthenia, limb-girdle, autoimmune - See Myasthenia gravis, limb-girdle
• Myasthenic syndrome congenital associated with episodic apnea - See Congenital myasthenic syndrome with episodic apnea
• Myasthenic syndrome of Lambert-Eaton - See Lambert Eaton myasthenic syndrome
• Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency - See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
• Myasthenic syndrome, congenital, postsynaptic slow-channel - See Slow-channel congenital myasthenic syndrome
• Myasthenic syndrome, congenital, slow-channel - See Slow-channel congenital myasthenic syndrome
• Myasthenic syndrome, congenital, type IIa - See Slow-channel congenital myasthenic syndrome
• Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea - See Congenital myasthenic syndrome with episodic apnea
• Myasthenic-Myopathic syndrome of Lambert-Eaton - See Lambert Eaton myasthenic syndrome
• Mycetoma
• Mycobacterial disease, Mendelian susceptibility to - See Atypical mycobacteriosis, familial
• Mycobacterium Abscessus
• Mycobacterium Abscessus infection - See Mycobacterium Abscessus
• Mycobacterium Avium - See Mycobacterium Avium Complex infections
• Mycobacterium Avium Complex infections
• Mycobacterium Avium-Intracellulare - See Mycobacterium Avium Complex infections
• Mycobacterium Avium-Intracellulare infection - See Mycobacterium Avium Complex infections
• Mycobacterium Chelonae
• Mycobacterium Chelonae infection - See Mycobacterium Chelonae
• Mycobacterium fortuitum
• Mycobacterium Fortuitum infection - See Mycobacterium fortuitum
• Mycobacterium Gordonae
• Mycobacterium Gordonae infection - See Mycobacterium Gordonae
• Mycobacterium Kansasii
• Mycobacterium Kansasii infection - See Mycobacterium Kansasii
• Mycobacterium Malmoense
• Mycobacterium Malmoense infection - See Mycobacterium Malmoense
• Mycobacterium Marinum
• Mycobacterium Marinum infection - See Mycobacterium Marinum
• Mycobacterium tuberculosis, susceptibility to infection by
• Mycobacterium Xenopi
• Mycobacterium Xenopi infection - See Mycobacterium Xenopi
• Mycoplasmal pneumonia
• Mycosis fungoides
• MYD88 deficiency
• Myelinosis centralis diffusa - See Leukoencephalopathy with vanishing white matter
• Myelitis
• Myelocerebellar disorder
• Myelocytic leukemia-like syndrome, familial, chronic
• myelodysplasia - See Myelodysplastic syndromes
• Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy - See MIRAGE syndrome
• Myelodysplastic Syndrome With Excess Blasts
• Myelodysplastic syndromes
• Myelodysplastic/myeloproliferative disease
• Myelodysplastic/myeloproliferative neoplasm - See Myelodysplastic/myeloproliferative disease
• Myelofibrosis
• Myeloid leukemia - See Myeloid leukemia
• Myeloid leukemia
• Myeloid metaplasia - See Myelofibrosis
• Myeloid proliferations related to Down syndrome - See Acute myeloid leukemia
• Myeloid sarcoma
• Myeloid splenomegaly
• Myeloma - multiple - See Multiple myeloma
• Myelomatosis - See Multiple myeloma
• Myelomeningocele
• Myeloperoxidase deficiency
• MYH7-related late-onset scapuloperoneal muscular dystrophy - See MYH7-related scapuloperoneal myopathy
• MYH7-related late-onset scapuloperoneal syndrome - See MYH7-related scapuloperoneal myopathy
• MYH7-related late-onset SPMD - See MYH7-related scapuloperoneal myopathy
• MYH7-related scapuloperoneal myopathy
• MYH9 related disorders - See MYH9 related thrombocytopenia
• MYH9 related thrombocytopenia
• MYH-associated polyposis
• Myhre syndrome
• MYMY - See Moyamoya disease
• Myoadenylate deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
• Myocardial calcifications resulting in intrauterine fetal death - See Cardiomyopathy, fatal fetal, due to myocardial calcification
• Myocardial tumors (rhabdomyomas and fibromas) - See Heart tumor
• Myocarditis
• Myoclonic astatic epilepsy - See Epilepsy with myoclonic-atonic seizures
• Myoclonic dystonia - See Myoclonus-dystonia
• Myoclonic epilepsy associated with ragged red fibers - See Myoclonic epilepsy with ragged red fibers
• Myoclonic epilepsy of Lafora - See Lafora disease
• Myoclonic epilepsy of Unverricht and Lundborg - See Unverricht-Lundborg disease
• Myoclonic epilepsy with choreoathetosis - See Dentatorubral-pallidoluysian atrophy
• Myoclonic epilepsy with ragged red fibers
• Myoclonic epilepsy, juvenile, 1 - See Juvenile myoclonic epilepsy
• Myoclonic epilepsy, severe, of infancy - See Dravet syndrome
• Myoclonic nystagmus - See Nystagmus, myoclonic
• Myoclonus and ataxia - See Dyssynergia cerebellaris myoclonica
• Myoclonus cerebellar ataxia deafness
• Myoclonus cherry red spot syndrome - See Sialidosis type I
• Myoclonus epilepsy
• Myoclonus epilepsy partial seizure
• Myoclonus hereditary progressive distal muscular atrophy
• Myoclonus progressive epilepsy of Unverricht and Lundborg - See Unverricht-Lundborg disease
• Myoclonus, hereditary essential - See Myoclonus-dystonia
• Myoclonus-cerebellar ataxia-deafness syndrome - See Myoclonus cerebellar ataxia deafness
• Myoclonus-dystonia
• Myoclonus-dystonia syndrome - See Myoclonus-dystonia
• Myodystrophia fetalis deformans - See Arthrogryposis multiplex congenita
• Myoencephalopathy ragged-red fiber disease - See Myoclonic epilepsy with ragged red fibers
• Myoepithelial carcinoma
• Myoepithelioma carcinoma - See Myoepithelial carcinoma
• Myofibrillar myopathy
• Myofibrillar myopathy with early respiratory failure - See Hereditary proximal myopathy with early respiratory failure
• Myofibrillar myopathy-titinopathy - See Hereditary proximal myopathy with early respiratory failure
• Myoglobinuria recurrent
• Myokymia with neonatal epilepsy
• Myoneurogastrointestinal encephalopathy syndrome - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• Myopathic carnitine deficiency
• Myopathy congenital
• Myopathy distal, type 1 - See Laing distal myopathy
• Myopathy due to myoadenylate deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
• Myopathy due to phosphoglycerate mutase deficiency - See Phosphoglycerate mutase deficiency
• Myopathy with cataract and combined respiratory-chain deficiency - See Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
• Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles - See Inclusion body myopathy 3
• Myopathy with extrapyramidal signs
• Myopathy with lactic acidosis and sideroblastic anemia - See Sideroblastic anemia and mitochondrial myopathy
• Myopathy with lobulated fibers - See Trabecular myopathy
• Myopathy, areflexia, respiratory distress, and dysphagia, early-onset - See Early-onset myopathy, areflexia, respiratory distress and dysphagia
• Myopathy, benign congenital, with contractures - See Bethlem myopathy
• Myopathy, central core - See Central core disease
• Myopathy, central fibrillar - See Central core disease
• Myopathy, Centronuclear, 1 - See Autosomal dominant centronuclear myopathy
• Myopathy, Centronuclear, 2 - See Autosomal recessive centronuclear myopathy
• Myopathy, centronuclear, autosomal recessive - See Autosomal recessive centronuclear myopathy
• Myopathy, congenital nonprogressive with Moebius and Robin sequences - See Carey-Fineman-Ziter syndrome
• Myopathy, congenital with fiber-type disproportion - See Congenital fiber type disproportion
• Myopathy, distal, 2 - See Distal myopathy with vocal cord weakness
• Myopathy, lactic acidosis and sideroblastic anemia - See Sideroblastic anemia and mitochondrial myopathy
• Myopathy, limb-girdle, with bone fragility
• Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
• Myopathy, proximal, with early respiratory muscle involvement - See Hereditary proximal myopathy with early respiratory failure
• Myopathy, tubular aggregate - See Tubular aggregate myopathy
• Myopathy, X-linked, with excessive autophagy - See X-linked myopathy with excessive autophagy
• Myopathy-Moebius-Robin syndrome - See Carey-Fineman-Ziter syndrome
• Myophosphorylase deficiency - See Glycogen storage disease type 5
• Myopia 6
• Myopia retinal detachment encephalocele - See Knobloch syndrome
• Myopia, susceptibility to - See Myopia 6
• Myopia-night blindness - See X-linked congenital stationary night blindness
• Myosin heavy chain diseases - Another name for Myosinopathies
• Myosin storage myopathy
• Myosinopathies
• Myositis - See Idiopathic inflammatory myopathy
• Myositis ossificans progressiva - See Fibrodysplasia ossificans progressiva
• Myostatin-related muscle hypertrophy
• Myotilinopathy (type) - See Myofibrillar myopathy
• Myotonia atrophica
• Myotonia atrophica - See Myotonic dystrophy
• Myotonia congenita
• Myotonia congenita intermittens - See Paramyotonia congenita
• Myotonia congenita, acetazolamide-responsive - See Potassium aggravated myotonia
• Myotonia congenita, atypical - See Potassium aggravated myotonia
• Myotonia dystrophica - See Myotonic dystrophy
• Myotonia fluctuans - See Potassium aggravated myotonia
• Myotonia permanens - See Potassium aggravated myotonia
• Myotonia-intellectual disability-skeletal anomalies syndrome - See Richieri Costa Da Silva syndrome
• Myotonic chondrodystrophy - See Schwartz Jampel syndrome
• Myotonic dystrophy
• Myotonic dystrophy type 1
• Myotonic dystrophy type 2
• Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities - See Schwartz Jampel syndrome
• Myotonic myopathy with cylindrical spirals - See Cylindrical spirals myopathy
• Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies - See Schwartz Jampel syndrome
• Myotonic myopathy, proximal - See Myotonic dystrophy type 2
• Myotubular Myopathy, Autosomal Dominant - See Autosomal dominant centronuclear myopathy
• MYP6 - See Myopia 6
• Myxoid liposarcoma
• Myxoid/round cell liposarcoma - See Myxoid liposarcoma
• Myxoliposarcoma - See Myxoid liposarcoma
• Myxoma - spotty pigmentation - endocrine overactivity - See Carney complex
• Myxoma, spotty pigmentation, and endocrine overactivity - See Carney complex
• Myxoma-spotty pigmentation-endocrine overactivity syndrome - See Carney complex
• Myxomatous valvular disease, familial - See Mitral valve prolapse, familial, X-linked
• Myxomatous valvular dystrophy, X-linked - See Cardiac valvular dysplasia, X-linked
• Myxopapillary ependymoma
• Myxosporea - See Myxozoa
• Myxozoa
• MZL - See Marginal zone lymphoma