Main Page | See live article | Alphabetical index This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp . A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Mac Dermot Patton Williams syndrome Mac Dermot Winter syndrome Macias Flores Garcia Cruz Rivera syndrome Mackay Shek Carr syndrome Macleod Fraser syndrome Macrocephaly cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large hands feet Macrocephaly short stature paraplegia Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia Mcalister Coe type Macroglobulinemia Macroglossia dominant Macroglossia exomphalos gigantism Macrogyria pseudobulbar palsy Macrophagic myofasciitis Macrosomia developmental delay dysmorphism Macrosomia microphthalmia cleft palate Macrothrombocytopenia progressive deafness Macrothrombocytopenia with leukocyte inclusions Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular degeneration, polymorphic Macular degeneration Macular dystrophy, vitelliform Macules hereditary congenital hypopigmented and hyperpigmented Mad cow disease Madelung's disease Madokoro Ohdo Sonoda syndrome Maffucci syndrome Mageirocophobia Maghazaji syndrome Magnesium defect in renal tubular transport of Magnesium wasting renal Mal de debarquement Malakoplakia Malaria Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to defective LH molecule Malformations in neuronal migration Malignant astrocytoma Malignant fibrous histiocytoma Malignant germ cell tumor Malignant hyperthermia arthrogryposis torticollis Malignant hyperthermia susceptibility type 1 Malignant hyperthermia susceptibility type 2 Malignant hyperthermia susceptibility type 3 Malignant hyperthermia susceptibility type 4 Malignant hyperthermia susceptibility type 5 Malignant hyperthermia susceptibility type 6 Malignant hyperthermia Malignant mesenchymal tumor Malignant mixed Mullerian tumor Malignant paroxysmal ventricular tachycardia Mallory-Weiss syndrome Malonic aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Mandibuloacral dysplasia Mandibulofacial dysostosis deafness postaxial polydactly Manic Depression, Bipolar Manic-depressive psychosis, genetic types Mannosidosis Manouvrier syndrome Mansonelliasis Mantle cell lymphoma Marashi Gorlin syndrome Marchiafava Bignami disease Marchiafava-Micheli disease Marcus Gunn phenomenon Marden Walker like syndrome Marden-Walker syndrome Marek disease Marfan Syndrome type II Marfan Syndrome type III Marfan Syndrome type IV Marfan Syndrome type V Marfan syndrome Marfan-like syndrome, Boileau type Marfan-Like syndrome Marfanoid craniosynostosis syndrome Marfanoid hypermobility Marfanoid mental retardation syndrome autosomal Marginal glioneuronal heterotopia Marie type ataxia Marie Unna congenital hypotrichosis Marinesco Sjogren like syndrome Marinesco-Sjogren syndrome Marion Mayers syndrome Markel Vikkula Mulliken syndrome Marles Greenberg Persaud syndrome Maroteaux Cohen Solal Bonaventure syndrome Maroteaux Fonfria syndrome Maroteaux Le Merrer Bensahel syndrome Maroteaux Stanescu Cousin syndrome Maroteaux Verloes Stanescu syndrome Maroteaux-Lamy syndrome Marphanoid syndrome type De Silva Marsden Nyhan Sakati syndrome Marsden syndrome Marshall syndrome Marshall-Smith syndrome Martinez Monasterio Pinheiro syndrome Martsolf Reed Hunter syndrome Martsolf syndrome MASA syndrome Mass syndrome Massa Casaer Ceulemans syndrome Mast cell disease Mastigophobia Mastocytosis, short stature, hearing loss Mastocytosis Mastroiacovo De Rosa Satta syndrome Mastroiacovo Gambi Segni syndrome MAT deficiency Maternal hyperphenylalaninemia Maternally inherited diabetes and deafness Mathieu De Broca Bony syndrome Matsoukas Liarikos Giannika syndrome Matthew-Wood syndrome Maturity onset diabetes of the young Maumenee syndrome Maxillary double lip Maxillofacial dysostosis Maxillonasal dysplasia, Binder type Mayer Rokitanski Kuster syndrome May-Hegglin anomaly McAlister Crane syndrome McArdle disease McCallum Macadam Johnston syndrome McCune-Albright syndrome McDonough syndrome McDowall syndrome McGillivray syndrome McKusick Kaufman syndrome McKusick type metaphyseal chondrodysplasia McLain Debakian syndrome McPherson Clemens syndrome McPherson Robertson Cammarano syndrome Meacham Winn Culler syndrome Meadows syndrome Measles Meckel like syndrome Meckel syndrome Medeira Dennis Donnai syndrome Median cleft lip corpus callosum lipoma skin polyps Median nodule of the upper lip Mediastinal endodermal sinus tumors Mediterranean fever Medium-chain Acyl-CoA dehydrogenase deficiency Medrano Roldan syndrome Medullary cystic disease Medullary thyroid carcinoma Medulloblastoma Megacystis microcolon intestinal hypoperistalsis syndrome Megaduodenum Megaepiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia Megalocornea mental retardation syndrome Megalocytic Interstitial Nephritis Mehes syndrome Mehta Lewis Patton syndrome Meier Blumberg Imahorn syndrome Meier Rotschild syndrome Meige syndrome Meigel disease Meinecke Pepper syndrome Meinecke syndrome Melanoma type 1 Melanoma type 2 Melanoma, familial Melanoma, Malignant Melanoma-astrocytoma syndrome Melanosis neurocutaneous MELAS Meleda Disease Melhem Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles osteodysplasty Melnick-Needles syndrome Melophobia Membranoproliferative glomerulonephritis (type II) Mendelian susceptibility to atypical mycobacteria Menetrier's disease Mengel Konigsmark syndrome Meniere's disease Meningeal angiomatosis cleft hypoplastic left heart Meningioma 1 Meningioma Meningitis, meningococcal Meningitis Meningocele Meningococcemia Meningoencephalocele Meningoencephalocele-arthrogryposis-hypoplastic thumb Meningomyelocele Menophobia Mental deficiency-epilepsy-endocrine disorders Mental mixed retardation deafnes clubbed digits Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia telangiectasia Mental retardation athetosis microphthalmia Mental retardation blepharophimosis obesity web neck Mental retardation Buenos Aires type Mental retardation cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly Mental retardation dysmorphism hypogonadism diabetes Mental retardation epilepsy bulbous nose Mental retardation epilepsy Mental retardation gynecomastia obesity X linked Mental retardation hip luxation G6PD variant Mental retardation hypocupremia hypobetalipoproteinemia Mental retardation hypotonia skin hyperpigmentation Mental retardation macrocephaly coarse facies hypotonia Mental retardation microcephaly phalangeal facial Mental retardation microcephaly unusual facies Mental retardation Mietens Weber type Mental retardation multiple nevi Mental retardation myopathy short stature endocrine defect Mental retardation nasal hypoplasia obesity genital hypoplasia Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism Mental retardation short broad thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental retardation short stature deafness genital Mental retardation short stature hand contractures genital anomalies Mental retardation short stature heart and skeletal anomalies Mental retardation short stature hypertelorism Mental retardation short stature microcephaly eye Mental retardation short stature ocular and articular anomalies Mental retardation short stature scoliosis Mental retardation short stature unusual facies Mental retardation short stature wedge shaped epiphyses Mental retardation skeletal dysplasia abducens palsy Mental retardation Smith Fineman Myers type Mental retardation spasticity ectrodactyly Mental retardation unusual facies Ampola type Mental retardation unusual facies Davis Lafer type Mental retardation unusual facies talipes hand anomalies Mental retardation unusual facies Mental retardation Wolff type Mental retardation X linked Atkin type Mental retardation X linked borderline Maoa metabolism anomaly Mental retardation X linked Brunner type Mental retardation X linked dysmorphism Mental retardation X linked dystonia dysarthria Mental retardation X linked severe Gustavson type Mental retardation X linked short stature obesity Mental retardation X linked Tranebjaerg type seizures psoriasis Mental retardation, unexplained Mental retardation, X linked, Marfanoid habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation Mental retardation-polydactyly-uncombable hair Mercury poisoning Meretoja syndrome Merkle tumors Merlob Grunebaum Reisner syndrome Merlob syndrome Mesangial sclerosis, diffuse Mesenteric panniculitis Mesodermal defects lower type Mesomelia synostoses Mesomelia Mesomelic dwarfism cleft palate camptodactyly Mesomelic dwarfism Langer type Mesomelic dwarfism Nievergelt type Mesomelic dwarfism Reinhardt Pfeiffer type Mesomelic dysplasia skin dimples Mesomelic dysplasia Thai type Mesomelic syndrome Pfeiffer type Mesothelioma Metabolic disorder Metabolic Syndrome X Metacarpals 4 and 5 fusion Metachondromatosis Metageria Metaphyseal anadysplasia Metaphyseal chondrodysplasia Schmid type Metaphyseal chondrodysplasia Spahr type Metaphyseal chondrodysplasia, others Metaphyseal dysostosis mental retardation conductive deafness Metaphyseal dysplasia maxillary hypoplasia brachydactyly Metaphyseal dysplasia Pyle type Metastatic insulinoma Metatarsus adductus Metathesiophobia Metatrophic dysplasia Metatropic dwarfism Methimazole antenatal infection Methionine adenosyl transferase deficiency Methyl mercury antenatal infection Methylcobalamin deficiency cbl G type Methylcobalamin deficiency, cbl E complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria, cbl D Methylmalonicaciduria with homocystinuria, cbl F Methylmalonicaciduria, vitamin B12 unresponsive, mut-0 Methylmalonyl-Coenzyme A mutase deficiency Mevalonate kinase deficiency Mevalonicaciduria Meyenburg-Altherr-Uehlinger syndrome Michelin tire baby syndrome Michels Caskey syndrome Michels syndrome Mickleson syndrome Micrencephaly corpus callosum agenesis Micrencephaly olivopontocerebellar hypoplasia Micro syndrome Microbrachycephaly ptosis cleft lip Microcephalic osteodysplastic primordial dwarfism Microcephalic primordial dwarfism Toriello type Microcephalic primordial dwarfism Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant Microcephaly brachydactyly kyphoscoliosis Microcephaly brain defect spasticity hypernatremia Microcephaly cardiac defect lung malsegmentation Microcephaly cardiomyopathy Microcephaly cervical spine fusion anomalies Microcephaly chorioretinopathy recessive form Microcephaly cleft palate autosomal dominant Microcephaly deafness syndrome Microcephaly developmental delay pancytopenia Microcephaly facial clefting preaxial polydactyly Microcephaly glomerulonephritis Marfanoid habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly intracranial calcification Microcephaly lymphoedema chorioretinal dysplasia Microcephaly lymphoedema syndrome Microcephaly mental retardation retinopathy Microcephaly mental retardation spasticity epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos blindness Microcephaly nonsyndromal Microcephaly pontocerebellar hypoplasia dyskinesia Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy, autosomal dominant form Microcephaly with normal intelligence, immunodeficiency Microcephaly with spastic quadriplegia Microcephaly, holoprosencephaly, and intrauterine growth retardation Microcephaly, primary autosomal recessive Microcephaly Microcoria, congenital Microcornea corectopia macular hypoplasia Microcornea glaucoma absent frontal sinuses Microdontia hypodontia short stature Microencephaly Microgastria limb reduction defect Microgastria short stature diabetes Micromelic dwarfism Fryns type Micromelic dysplasia dislocation of radius Microphobia Microphtalmos bilateral colobomatous orbital cyst Microphthalmia camptodactyly mental retardation Microphthalmia cataract Microphthalmia diaphragmatic hernia Fallot Microphthalmia mental deficiency Microphthalmia microtia fetal akinesia Microphthalmia, Lentz type Microphthalmia Microphthalmos, microcornea, and sclerocornea Microscopic polyangiitis Microsomia hemifacial radial defects Microspherophakia metaphyseal dysplasia Microsporidiosis Microtia, meatal atresia and conductive deafness Microvillus inclusion disease Miculicz syndrome MIDAS syndrome Midline cleft of lower lip Midline defects autosomal type Midline defects recessive type Midline developmental field defects Midline field defects Midline lethal granuloma Mietens syndrome Mievis Verellen Dumoulin syndrome Mikulicz' Disease Mikulicz syndrome Miller Fisher syndrome Miller-Dieker syndrome Milner Khallouf Gibson syndrome MILS syndrome Minkowski-Chauffard disease Minoxidil antenatal infection Miosis, congenital Mirror hands feet nasal defects Mirror polydactyly segmentation and limbs defects Misophobia Mitochondrial cytopathy (generic term) Mitochondrial diseases of nuclear origin Mitochondrial diseases, clinically undefinite Mitochondrial Diseases Mitochondrial encephalomyopathy aminoacidopathy Mitochondrial genetic disorders Mitochondrial myopathy lactic acidosis Mitochondrial myopathy-encephalopathy-lactic acidosis Mitochondrial PEPCK deficiency Mitochondrial trifunctional protein deficiency Mitral atresia Mitral regurgitation deafness skeletal anomalies Mitral valve prolapse, familial, autosomal dominant Mitral valve prolapse, familial, X linked Mitral valve prolapse Miura syndrome Mixed connective tissue disease Mixed Mullerian tumor Mixed sclerosing bone dystrophy MLS syndrome MMEP syndrome MMT syndrome MN1 MNGIE syndrome Mobius syndrome MODY syndrome Moebius axonal neuropathy hypogonadism Moebius syndrome Moerman Van den berghe Fryns syndrome Moeschler Clarren syndrome Mohr syndrome Mohr-Tranebjaerg syndrome Mollica Pavone Antener syndrome Moloney syndrome Molybdenum cofactor deficiency MOMO syndrome Mondini Dysplasia Mondor's disease Monilethrix Monoamine oxidase A deficiency Monoclonal gammopathy of undetermined significance Monodactyly tetramelic Mononen Karnes Senac syndrome Mononeuritis multiplex Monosomy 8q12 21 Monosomy 8q21 q22 Monosomy X Montefiore syndrome Moore Federman syndrome Moore Smith Weaver syndrome Morel's ear Moreno Zachai Kaufman syndrome Morgani Turner Albright syndrome Morhosseini Holmes Walton syndrome Morillo Cucci Passarge syndrome Morphea Scleroderma Morphea, generalized Morquio disease, type A Morquio disease, type B Morquio syndrome Morrison Young syndrome Morse Rawnsley Sargent syndrome Motor neuron disease Motor neuro-ophthalmic disorders Motor neuropathy peripheral dysautonomia Motor neuropathy Motor sensory neuropathy type 1 aplasia cutis congenita Motorphobia Mounier-Kuhn syndrome Mount Reback syndrome Mousa Al din Al Nassar syndrome Moyamoya disease MPO deficiency MPS III-A MPS III-B MPS III-C MPS III-D MPS VI MR MRKH Syndrome MSBD syndrome MTHFR deficiency Mucha-Habermann disease Muckle-wells syndrome Mucoepithelial dysplasia Mucolipidosis type 1 Mucolipidosis type 3 Mucolipidosis type 4 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis type I Hurler/Scheie syndrome Mucopolysaccharidosis type I Scheie syndrome Mucopolysaccharidosis type II Hunter syndrome- mild form Mucopolysaccharidosis type II Hunter syndrome- severe form Mucopolysaccharidosis type IV-A Morquio syndrome Mucopolysaccharidosis type IV-B Mucopolysaccharidosis type V Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate Mucopolysaccharidosis type VII Sly syndrome Mucopolysaccharidosis Mucosulfatidosis Muenke Syndrome Mulibrey Nanism syndrome Muller Barth Menger syndrome Mullerian agenesis Mullerian aplasia Mullerian derivatives lymphangiectasia polydactyly Mullerian derivatives, persistent Mullerian duct abnormalities galactosemia Mulliez Roux Loterman syndrome Multicentric osteolysis nephropathy Multicentric reticulohistiocytosis Multifocal heterotopia Multifocal motor neuropathy with conduction block Multifocal ventricular premature beats Multinodular goiter cystic kidney polydactyly Multiple acyl-CoA deficiency Multiple carboxylase deficiency, biotin responsive Multiple carboxylase deficiency, late onset Multiple carboxylase deficiency, propionic acidemia Multiple chemical sensitivity Multiple congenital anomalies mental retardation, growth failure and cleft lip palate Multiple congenital contractures Multiple contracture syndrome Finnish type Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia, type 2 Multiple fibrofolliculoma familial Multiple hereditary exostoses Multiple joint dislocations metaphyseal dysplasia Multiple myeloma Multiple organ failure Multiple pterygium syndrome lethal type Multiple pterygium syndrome Multiple sclerosis ichthyosis factor VIII deficiency Multiple sclerosis Multiple subcutaneous angiolipomas Multiple sulfatase deficiency Multiple synostoses syndrome 1 Multiple system atrophy Multiple vertebral anomalies unusual facies Mumps Munchausen by proxy syndrome Muscle-eye-brain syndrome Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus Muscular dystrophy congenital infantile cataract hypogonadism Muscular dystrophy congenital, merosin negative Muscular dystrophy facioscapulohumeral Muscular dystrophy Hutterite type Muscular dystrophy limb girdle type 2A, Erb type Muscular dystrophy limb-girdle autosomal dominant Muscular dystrophy limb-girdle type 2B, Myoshi type Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency Muscular dystrophy white matter spongiosis Muscular dystrophy, congenital, merosin-positive Muscular dystrophy, Duchenne and Becker type Muscular dystrophy Muscular fibrosis multifocal obstructed vessels Muscular phosphorylase kinase deficiency Mutations in estradiol receptor Myalgia eosinophilia associated with tryptophan Myalgic encephalomyelitis Myasthenia gravis congenital Myasthenia gravis Myasthenia, familial Mycetoma Mycobacterium avium complex infection Mycophobia Mycoplasmal pneumonia Mycosis fungoides lymphoma Mycosis fungoides, familial Mycosis fungoides Mycositis fungoides Myelinopathies Myelitis Myelocerebellar disorder Myelodysplasia Myelodysplastic syndromes Myelofibrosis, idiopathic Myelofibrosis Myelofibrosis-osteosclerosis Myeloid splenomegaly Myeloperoxidase deficiency Myhre Ruvalcaba Graham syndrome Myhre Ruvalcaba Kelley syndrome Myhre School syndrome Myhre syndrome Myoadenylate deaminase deficiency Myocarditis Myocardium disorder Myoclonic dystonia Myoclonic progressive familial epilepsy Myoclonus ataxia Myoclonus cerebellar ataxia deafness Myoclonus epilepsy partial seizure Myoclonus epilepsy Myoclonus hereditary progressive distal muscular atrophy Myoclonus progressive epilepsy of Unverricht and Lundborg Myoclonus with epilepsy with ragged red fibers (mitochondria) Myoclonus Myofibrillar lysis Myofibroblastic tumors Myoglobinuria dominant form Myoglobinuria recurrent Myoglobinuria Myoneurogastrointestinal encephalopathy syndrome Myopathy and diabetes mellitus Myopathy cataract hypogonadism Myopathy congenital multicore with external ophthalmoplegia Myopathy growth and mental retardation hypospadias Myopathy Hutterite type Myopathy mitochondrial cataract Myopathy Moebius Robin syndrome Myopathy ophthalmoplegia hypoacousia areflexia Myopathy tubular aggregates Myopathy with lactic acidosis and sideroblastic anemia Myopathy with lysis of myofibrils Myopathy, desmin storage Myopathy, McArdle type Myopathy, myotubular Myopathy, X-linked, with excessive autophagy Myopathy Myophosphorylase deficiency Myopia, infantile severe Myopia, severe Myositis ossificans post-traumatic Myositis ossificans progressiva Myositis ossificans Myositis, inclusion body Myositis Myotonia atrophica Myotonia mental retardation skeletal anomalies Myxedema Myxoid liposarcoma Myxoma-spotty pigmentation-endocrine overactivity Myxomatous peritonitis Myxozoa This article is from Wikipedia. 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