| | MRKH Syndrome (Mullerian Agenesis) |
| | Mac Dermot Patton Williams syndrome |
| | Mac Dermot Winter syndrome |
| | Macias Flores Garcia Cruz Rivera syndrome |
| | Mackay Shek Carr 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 |
| | Macroepiphyseal dysplasia Mcalister Coe type |
| | Macroglossia exomphalos gigantism |
| | Macrogyria pseudobulbar palsy |
| | 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 dystrophy, vitelliform |
| | Macules hereditary congenital hypopigmented and hyperpigmented |
| | Madokoro Ohdo Sonoda syndrome |
| | Magnesium defect in renal tubular transport of |
| | 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 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 mesenchymal tumor |
| | Malignant mixed Mullerian tumor |
| | Malignant paroxysmal ventricular tachycardia |
| | Malonyl-CoA decarboxylase deficiency |
| | Malpuech facial clefting syndrome |
| | Mandibulofacial dysostosis deafness postaxial polydactyly |
| | Manic Depression, Bipolar |
| | Manic-depressive psychosis, genetic types |
| | Marchiafava Bignami disease |
| | Marchiafava-Micheli disease |
| | Marden Walker like syndrome |
| | Marfan-like syndrome, Boileau type |
| | Marfanoid craniosynostosis syndrome |
| | Marfanoid mental retardation syndrome autosomal |
| | Marginal glioneuronal heterotopia |
| | Marie Unna congenital hypotrichosis |
| | Marinesco Sjogren like syndrome |
| | Marinesco-Sjogren 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 |
| | Marphanoid syndrome type De Silva |
| | Marsden Nyhan Sakati syndrome |
| | Martinez Monasterio Pinheiro syndrome |
| | Martsolf Reed Hunter syndrome |
| | Massa Casaer Ceulemans syndrome |
| | Mastocytosis, short stature, hearing loss |
| | Mastroiacovo De Rosa Satta syndrome |
| | Mastroiacovo Gambi Segni syndrome |
| | Maternal hyperphenylalaninemia |
| | Maternally inherited diabetes and deafness |
| | Mathieu De Broca Bony syndrome |
| | Matsoukas Liarikos Giannika syndrome |
| | Maturity onset diabetes of the young |
| | Maxillonasal dysplasia, Binder type |
| | Mayer Rokitanski Kuster syndrome |
| | McCallum Macadam Johnston syndrome |
| | McKusick Kaufman syndrome |
| | McKusick type metaphyseal chondrodysplasia |
| | McPherson Clemens syndrome |
| | McPherson Robertson Cammarano syndrome |
| | Meacham Winn Culler syndrome |
| | Medeira Dennis Donnai syndrome |
| | Median cleft lip corpus callosum lipoma skin polyps |
| | Median nodule of the upper lip |
| | Mediastinal endodermal sinus tumors |
| | Medium-chain Acyl-CoA dehydrogenase deficiency |
| | Medullary thyroid carcinoma |
| | Megacystis microcolon intestinal hypoperistalsis syndrome |
| | Megalencephalic leukodystrophy |
| | Megalencephaly-cystic leukodystrophy |
| | Megalocornea mental retardation syndrome |
| | Megalocytic Interstitial Nephritis |
| | Mehta Lewis Patton syndrome |
| | Meier Blumberg Imahorn syndrome |
| | Melanoma-astrocytoma syndrome |
| | Melkersson-Rosenthal syndrome |
| | Melnick-Needles osteodysplasty |
| | Membranoproliferative glomerulonephritis (type II) |
| | Mendelian susceptibility to atypical mycobacteria |
| | Mengel Konigsmark syndrome |
| | Meningeal angiomatosis cleft hypoplastic left heart |
| | Meningitis, meningococcal |
| | Meningoencephalocele-arthrogryposis-hypoplastic thumb |
| | Mental deficiency-epilepsy-endocrine disorders |
| | Mental mixed retardation deafnes clubbed digits |
| | Mental retardation Buenos Aires type |
| | Mental retardation Mietens Weber type |
| | Mental retardation Smith Fineman Myers type |
| | Mental retardation Wolff type |
| | Mental retardation X linked Atkin type |
| | Mental retardation X linked Brunner type |
| | Mental retardation X linked Tranebjaerg type seizures psoriasis |
| | Mental retardation X linked borderline Maoa metabolism anomaly |
| | 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 anophthalmia craniosynostosis |
| | Mental retardation arachnodactyly hypotonia telangiectasia |
| | Mental retardation athetosis microphthalmia |
| | Mental retardation blepharophimosis obesity web neck |
| | Mental retardation cataracts calcified pinnae myopathy |
| | Mental retardation coloboma slimness |
| | Mental retardation contractural arachnodactyly |
| | Mental retardation dysmorphism hypogonadism diabetes |
| | Mental retardation epilepsy |
| | Mental retardation epilepsy bulbous nose |
| | 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 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 Bombay phenotype |
| | Mental retardation short stature absent phalanges |
| | 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 spasticity ectrodactyly |
| | Mental retardation unusual facies |
| | Mental retardation unusual facies Ampola type |
| | Mental retardation unusual facies Davis Lafer type |
| | Mental retardation unusual facies talipes hand anomalies |
| | Mental retardation, X linked, Marfanoid habitus |
| | Mental retardation, X linked, nonspecific |
| | Mental retardation, X-linked 14 |
| | Mental retardation, unexplained |
| | Mental retardation-polydactyly-uncombable hair |
| | Merlob Grunebaum Reisner syndrome |
| | Mesangial sclerosis, diffuse |
| | Mesodermal defects lower type |
| | Mesomelic dwarfism Langer type |
| | Mesomelic dwarfism Nievergelt type |
| | Mesomelic dwarfism Reinhardt Pfeiffer type |
| | Mesomelic dwarfism cleft palate camptodactyly |
| | Mesomelic dysplasia Thai type |
| | Mesomelic dysplasia skin dimples |
| | Mesomelic syndrome Pfeiffer type |
| | Metacarpals 4 and 5 fusion |
| | Metaphyseal chondrodysplasia Schmid type |
| | Metaphyseal chondrodysplasia Spahr type |
| | Metaphyseal chondrodysplasia, others |
| | Metaphyseal dysostosis mental retardation conductive deafness |
| | Metaphyseal dysplasia Pyle type |
| | Metaphyseal dysplasia maxillary hypoplasia brachydactyly |
| | 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 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 |
| | Meyenburg-Altherr-Uehlinger syndrome |
| | Michelin tire baby syndrome |
| | Micrencephaly corpus callosum agenesis |
| | Micrencephaly olivopontocerebellar hypoplasia |
| | Microbrachycephaly ptosis cleft lip |
| | Microcephalic osteodysplastic primordial dwarfism |
| | Microcephalic primordial dwarfism |
| | Microcephalic primordial dwarfism Toriello type |
| | 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 |
| | Microcornea corectopia macular hypoplasia |
| | Microcornea glaucoma absent frontal sinuses |
| | Microdontia hypodontia short stature |
| | Microgastria limb reduction defect |
| | Microgastria short stature diabetes |
| | Micromelic dwarfism Fryns type |
| | Micromelic dysplasia dislocation of radius |
| | Microphtalmos bilateral colobomatous orbital cyst |
| | Microphthalmia camptodactyly mental retardation |
| | Microphthalmia diaphragmatic hernia Fallot |
| | Microphthalmia mental deficiency |
| | Microphthalmia microtia fetal akinesia |
| | Microphthalmia, Lentz type |
| | Microphthalmos, microcornea, and sclerocornea |
| | Microsomia hemifacial radial defects |
| | Microspherophakia metaphyseal dysplasia |
| | Microtia, meatal atresia and conductive deafness |
| | Microvillus inclusion disease |
| | Midline cleft of lower lip |
| | Midline defects autosomal type |
| | Midline defects recessive type |
| | Midline developmental field defects |
| | Mievis Verellen Dumoulin syndrome |
| | Milner Khallouf Gibson syndrome |
| | Minkowski-Chauffard disease |
| | Minoxidil antenatal infection |
| | Mirror hands feet nasal defects |
| | Mirror polydactyly segmentation and limbs defects |
| | Mitochondrial PEPCK deficiency |
| | Mitochondrial cytopathy (generic term) |
| | Mitochondrial diseases of nuclear origin |
| | Mitochondrial diseases, clinically undefinite |
| | Mitochondrial encephalomyopathy aminoacidopathy |
| | Mitochondrial genetic disorders |
| | Mitochondrial myopathy lactic acidosis |
| | Mitochondrial myopathy-encephalopathy-lactic acidosis |
| | Mitochondrial trifunctional protein deficiency |
| | Mitral regurgitation deafness skeletal anomalies |
| | Mitral valve prolapse, familial, X linked |
| | Mitral valve prolapse, familial, autosomal dominant |
| | Mixed connective tissue disease |
| | Mixed sclerosing bone dystrophy |
| | Moebius axonal neuropathy hypogonadism |
| | Moerman Van den berghe Fryns syndrome |
| | Moeschler Clarren syndrome |
| | Mohr-Tranebjaerg syndrome |
| | Mollica Pavone Antener syndrome |
| | Molybdenum cofactor deficiency |
| | Monoamine oxidase A deficiency |
| | Monoclonal gammopathy of undetermined significance |
| | Mononen Karnes Senac syndrome |
| | Moore Smith Weaver syndrome |
| | Moreno Zachai Kaufman syndrome |
| | Morgani Turner Albright syndrome |
| | Morhosseini Holmes Walton syndrome |
| | Morillo Cucci Passarge syndrome |
| | Morse Rawnsley Sargent syndrome |
| | Motor neuro-ophthalmic disorders |
| | Motor neuropathy peripheral dysautonomia |
| | Motor sensory neuropathy type 1 aplasia cutis congenita |
| | Mousa Al din Al Nassar syndrome |
| | 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 |
| | Muller Barth Menger syndrome |
| | Mullerian derivatives lymphangiectasia polydactyly |
| | Mullerian derivatives, persistent |
| | Mullerian duct abnormalities galactosemia |
| | Mulliez Roux Loterman syndrome |
| | Multicentric osteolysis nephropathy |
| | Multicentric reticulohistiocytosis |
| | 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 pterygium syndrome |
| | Multiple pterygium syndrome lethal type |
| | Multiple sclerosis ichthyosis factor VIII deficiency |
| | Multiple subcutaneous angiolipomas |
| | Multiple sulfatase deficiency |
| | Multiple synostoses syndrome 1 |
| | Multiple vertebral anomalies unusual facies |
| | Munchausen by proxy syndrome |
| | Muscle-eye-brain syndrome |
| | Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus |
| | Muscular dystrophy Hutterite type |
| | Muscular dystrophy congenital infantile cataract hypogonadism |
| | Muscular dystrophy congenital, merosin negative |
| | Muscular dystrophy facioscapulohumeral |
| | 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, Duchenne and Becker type |
| | Muscular dystrophy, congenital, merosin-positive |
| | Muscular fibrosis multifocal obstructed vessels |
| | Muscular phosphorylase kinase deficiency |
| | Mutations in estradiol receptor |
| | Myalgia eosinophilia associated with tryptophan |
| | Myalgic encephalomyelitis |
| | Myasthenia gravis congenital |
| | Mycobacterium avium complex infection |
| | Mycosis fungoides lymphoma |
| | Mycosis fungoides, familial |
| | Myelodysplastic syndromes |
| | Myelofibrosis, idiopathic |
| | Myelofibrosis-osteosclerosis |
| | Myeloperoxidase deficiency |
| | Myhre Ruvalcaba Graham syndrome |
| | Myhre Ruvalcaba Kelley syndrome |
| | Myoadenylate deaminase deficiency |
| | Myoclonic progressive familial epilepsy |
| | Myoclonus cerebellar ataxia deafness |
| | Myoclonus epilepsy partial seizure |
| | Myoclonus hereditary progressive distal muscular atrophy |
| | Myoclonus progressive epilepsy of Unverricht and Lundborg |
| | Myoclonus with epilepsy with ragged red fibers (mitochondria) |
| | Myoglobinuria dominant form |
| | Myoneurogastrointestinal encephalopathy syndrome |
| | Myopathy Moebius Robin syndrome |
| | Myopathy and diabetes mellitus |
| | Myopathy cataract hypogonadism |
| | Myopathy congenital multicore with external ophthalmoplegia |
| | Myopathy growth and mental retardation hypospadias |
| | Myopathy mitochondrial cataract |
| | Myopathy ophthalmoplegia hypoacousia areflexia |
| | Myopathy tubular aggregates |
| | Myopathy with lactic acidosis and sideroblastic anemia |
| | Myopathy with lysis of myofibrils |
| | Myopathy, X-linked, with excessive autophagy |
| | Myophosphorylase deficiency |
| | Myositis ossificans post-traumatic |
| | Myositis ossificans progressiva |
| | Myotonia mental retardation skeletal anomalies |
| | Myxoma-spotty pigmentation-endocrine overactivity |
| |