Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program M/2

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





M/2



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Microhydranencephaly
• Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects - SeeSpondyloepimetaphyseal 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 - SeeMegalocornea - 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 meatal atresia deafness dominant - See Gupta Patton syndrome
• Microtia with meatal atresia and conductive deafness - See Gupta Patton syndrome
• 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
• Mikati Najjar Sahli syndrome - See Microcephaly hypergonadotropic hypogonadism short stature
• 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
• 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 - SeeTMEM70 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
• Miura syndrome
• 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
• 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 - See Torg Winchester syndrome
• Monday morning fever - See Byssinosis
• Mondini dysplasia
• 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
• 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 - SeeDendritic 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 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
• Morel's ear
• Morgagni-Stewart-Morel syndrome
• Morgellons
• Morgellon's - See Morgellons
• MORM 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
• Motor neuro-ophthalmic disorders - See Ocular motility disorders
• Motor neuro-ophthalmic disorders
• Motor neuropathy, distal, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
• Motor sensory neuropathy type 1 aplasia cutis congenita
• 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)
• MPDU1-CDG (CDG-If) - See 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) - See MPI-CDG (CDG-Ib)
• 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 Handigodu disease - not a rare disease
• 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, 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 MUC1-related autosomal dominant tubulointerstitial kidney disease
• MUC1-related autosomal dominant tubulointerstitial kidney disease
• Mucha-Habermann disease - See Pityriasis lichenoides et varioliformis acuta
• Mucin-1 kidney disease - See MUC1-related autosomal dominant tubulointerstitial kidney disease
• Mucinous adenocarcinoma - See Adenocarcinoma of the appendix
• Mucinous carcinoid - See Goblet cell carcinoid
• MUCI-related ADTKD - See MUC1-related autosomal dominant tubulointerstitial kidney disease
• 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
• 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 carpotarsal osteolysis syndrome
• Multicentric carpo-tarsal osteolysis with or without nephropathy - See Multicentric osteolysis nephropathy
• Multicentric Castleman Disease
• Multicentric giant lymph node hyperplasia - See Multicentric Castleman Disease
• Multicentric osteolysis nephropathy
• Multicentric osteolysis, nodulosis and arthropathy - See Torg Winchester syndrome
• 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
• Multifocal fibrosclerosis - See IgG4-related disease
• Multifocal idiopathic fibrosclerosis - See IgG4-related disease
• Multifocal inner choroiditis - See Punctate inner choroidopathy
• 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 Autosomal dominant café au lait spots
• Multiple cafe´-au-lait syndrome - See Autosomal dominant café au lait spots
• Multiple cafe-au-lait spots - See Cafe au lait spots, multiple
• 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 joint dislocations metaphyseal dysplasia
• 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 lysis
• 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 dominant form
• 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 mitochondrial cataract
• 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 - See Myotonic dystrophy
• Myotonia atrophica
• 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