Orphanet: Diseases list
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Mabry syndrome MAC MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion-hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular non compaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-mental disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroencephaly Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Macular corneal dystrophy Maculopapular cutaneous mastocytosis MAD MADD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADD, mild type MADD, severe neonatal type Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome MAGEL2-related Prader-Willi-like syndrome MAGEL2-related PWLS MAGIC syndrome Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Malakoplakia Malan overgrowth syndrome Malaria Malattia leventinese Mal de débarquement Mal de Meleda Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Male sterility due to chromosome Y deletion Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the neurenteric canal, spinal cord and column Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Maligant granulosa cell tumor of the ovary Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant carcinoid syndrome Malignant dysgerminomatous germ cell tumor of the ovary Malignant epithelial tumor of ovary Malignant epithelial tumor of salivary glands Malignant germ cell tumor of ovary Malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the corpus uteri Malignant germ cell tumor of the vagina Malignant hyperthermia-arthrogryposis-torticollis syndrome Malignant hyperthermia of anesthesia Malignant lymphoma with peripheral neuropathy Malignant melanoma of meninges Malignant melanoma of the mucosa Malignant mesenchymal tumor Malignant mesenchymal tumor of cervix uteri Malignant migrating focal seizures of infancy Malignant migrating partial epilepsy of infancy Malignant migrating partial seizures of infancy Malignant mixed epithelial and mesenchymal tumor of cervix uteri Malignant mixed epithelial and mesenchymal tumor of corpus uteri Malignant mixed Müllerian tumor of the corpus uteri Malignant mixed Müllerian tumor of the ovary Malignant Müllerian mixed tumor of the cervix uteri Malignant neurilemmoma Malignant neurofibroma Malignant non-dysgerminomatous germ cell tumor of ovary Malignant non-epithelial tumor of ovary Malignant ovarian dysgerminoma Malignant ovarian germ cell tumor Malignant ovarian SCST Malignant ovarian sex cord-stromal tumor Malignant paroxysmal ventricular tachycardia Malignant penile tumor Malignant perineurioma Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with perineurial differentiation Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation Malignant peripheral neuroectodermal tumor of the cervix uteri Malignant peripheral neuroectodermal tumor of the corpus uteri Malignant peritoneal mesothelioma Malignant pilomatricoma Malignant rhabdoid tumor Malignant schwannoma Malignant Sertoli-Leydig cell tumor of the ovary Malignant sex cord stromal tumor of ovary Malignant soft tissue tumor Malignant teratoma of ovary Malignant thymoma Malignant triton tumor Malignant tubal tumor Malignant tumor of fallopian tubes Malignant tumor of penis Malonic aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malposition of a coronary ostium Malposition of external canthus Malpuech-Michels-Mingarelli-Carnevale syndrome MALS Maltase-glucoamylase deficiency MALT lymphoma MALToma Mammary-digital-nail syndrome Mammary Paget disease MAN1B1-CDG Man5GlcNAc2-PP-Dol flippase deficiency Mandibular arteriovenous malformation Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome Mandibular hypoplasia-hearing loss-progeroid syndrome Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis Mandibulofacial dysostosis, Guion-Almeida type Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulo-palpebral synkinesis-ptosis syndrome Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle cell lymphoma Mantle zone lymphoma Map-dot-fingerprint dystrophy Maple syrup urine disease Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease Marchiafava-Bignami disease Marchiafava-Micheli disease MARCH syndrome Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker-like syndrome Marden-Walker syndrome Mardini-Nyhan syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormalities-heart defects syndrome Marfanoid habitus-inguinal hernia-advanced bone age syndrome Marfanoid syndrome, De Silva type Marfan syndrome Marfan syndrome and Marfan-related disorders Marfan syndrome type 1 Marfan syndrome type 2 Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marles-Greenberg-Persaud syndrome Marles syndrome Maroteaux-Lamy disease Maroteaux-Le Merrer-Bensahel syndrome Maroteaux-Malamut syndrome Maroteaux-Stanescu-Cousin syndrome Maroteaux-Verloes-Stanescu syndrome Marshall-Smith syndrome Marshall syndrome Marshall syndrome with periodic fever Martin-Bell syndrome Martinique crinkled retinal pigment epitheliopathy Martin-Probst syndrome Martsolf-like syndrome Martsolf syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastocytosis Mastocytosis-short stature-deafness syndrome Mastocytosis-short stature-hearing loss syndrome Mast syndrome MAT Maternal anti-Kell alloimmunization Maternal del(14)(q32.2) Maternal disease-related embryofetopathy Maternal hyperphenylalaninemia Maternal hyperthermia-induced birth defects Maternally-inherited cardiomyopathy and deafness Maternally-inherited chronic progressive external ophthalmoplegia Maternally-inherited CPEO Maternally-inherited diabetes and deafness Maternally-inherited diabetes and hearing loss Maternally-inherited infantile subacute necrotizing encephalopathy Maternally-inherited Leigh disease Maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial myopathy Maternally-inherited spastic paraplegia Maternally-inherited SPG Maternal monosomy 14q32.2 Maternal phenylketonuria Maternal PKU Maternal riboflavin deficiency Maternal uniparental disomy Maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 21 Maternal uniparental disomy of chromosome 22 Maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome X Maternal UPD(20) Mathieu-De Broca-Bony syndrome MAT I/III deficiency MATR3-related distal myopathy Matthew-Wood syndrome Maturity-onset diabetes of the young Maturity-onset diabetes of the young type 5 Maumenee corneal dystrophy Maxillary arteriovenous malformation Maxillonasal dysostosis Maxillonasal dysplasia Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mazabraud syndrome Mazzanti syndrome MBD MBEN MC4R deficiency MCADD MCAD deficiency MCAHS type 2 MCAHS type 3 MCA/MR MCAP McArdle disease MCA without intellectual disability MCC McCabe disease MCCD MCC deficiency McCune-Albright syndrome MCD MCD MCDK McDonough syndrome MCDR1 MCDR2 MCDU McDuffie hypocomplementemic urticarial vasculitis McDuffie syndrome mcEDS MCEE deficiency McGrath syndrome MCKD MCKD1 MCKD2 McKusick-Kaufman syndrome MCL McLeod neuroacanthocytosis syndrome MCM MCMTC MCOPS10 MCOPS3 MCOPS4 MCOPS5 MCOPS6 MCOPS7 MCOPS8 MCPH McPherson-Clemens syndrome McPherson-Hall syndrome MCRCC MCRPE MCST MCT8 deficiency MCTD MC type II MC type III MCUL MD MDC MDC1A MDC1B MdD MDDGA MdDS MDK MDN syndrome MDPL syndrome MDP syndrome Meacham syndrome Meacham-Winn-Culler syndrome MEAK MEB disease with bilateral multicystic leucodystrophy MEB syndrome MECD Meckel-Gruber syndrome Meckel-like syndrome type 1 Meckel syndrome Meckel syndrome type 7 Meconium aspiration syndrome Meconium ileus due to guanylate cyclase 2C deficiency MECP2 duplication syndrome MED MED1 MED13L-related intellectual disability syndrome MED4 MED5 MEDAC syndrome Med-DLBCL Medeira-Dennis-Donnai syndrome Medial condensing osteitis of the clavicle Median arcuate ligament syndrome Median cleft face syndrome Median cleft lip/mandibule Median cleft lower facial stage Median cleft of the upper lip and maxilla Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome Median facial cleft Median nodule of the upper lip Mediastinal diffuse large-cell lymphoma with sclerosis Mediastinal fibrosis Medich giant platelet syndrome Medich macrothrombocytopenia Medina worm disease Medinensis Mediterranean anemia Mediterranean lymphoma Mediterranean spotted fever Medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-coenzyme A dehydrogenase deficiency MEDNIK syndrome Medullar disease Medullary cystic kidney disease Medullary cystic kidney disease type 1 Medullary cystic kidney disease type 2 Medullary plasmacytoma Medullary sponge kidney Medullary thyroid carcinoma Medulloblastoma Medulloblastoma with extensive nodularity Medulloepithelioma of the central nervous system Meesmann corneal dystrophy Meester-Loeys syndrome Mega-cisterna magna Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megaduodenum and/or megacystis Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megakaryoblastic AML with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megalocornea-intellectual disability syndrome Megalocornea-spherophakia-secondary glaucoma syndrome Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma-astrocytoma syndrome Melanoma of soft tissue Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS Meleda disease Melhem-Fahl syndrome Melioidosis Melkersson-Rosenthal syndrome Melnick-Fraser syndrome Melnick-Needles osteodysplasty Melnick-Needles syndrome Melorheostosis Melorheostosis with osteopoikilosis Membranoproliferative glomerulonephritis type 2 MEN MEN1 MEN2 MEN2A MEN2B MEN4 Mendelian susceptibility to atypical mycobacteria Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial infections MEND syndrome Ménétrier disease Mengel-Konigsmark syndrome Meningeal melanocytoma Meningioma Meningococcal meningitis Menke-Hennekam syndrome Menkes disease Menkes kinky hair disease Menkes syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERRF MERS Mesangiocapillary glomerulonephritis Mesenchymal hamartoma of liver Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenteric lipogranuloma Mesenteric panniculitis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Kozlowski-Reardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesulam syndrome Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic diseases with epilepsy Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic myopathy Metabolic myopathy due to lactate transporter defect Metabolic neurotransmission anomaly with epilepsy Metachondromatosis Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaphyseal dysplasia, Pyle type Metaplastic carcinoma of the breast Metastases without primary tumor Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methimazole embryofetopathy Methionine adenosyltransferase I/III deficiency Methotrexate-associated lymphoproliferative disorders Methotrexate toxicity Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Methylmalonic aciduria with homocystinuria Methylmalonic aciduria with homocystinuria, type cblC Methylmalonic aciduria with homocystinuria, type cblD Methylmalonic aciduria with homocystinuria, type cblF Methylmalonic aciduria with homocystinuria, type cblJ Methylmalonic aciduria with homocystinuria, type cblX Methylmalonic aciduria without homocystinuria Methylmalonyl-CoA mutase deficiency Methylmalonyl-Coenzyme A mutase deficiency Methyl mercury antenatal infection Metopic ridging-ptosis-facial dysmorphism syndrome Mevalonate kinase deficiency Mevalonic aciduria Meyer dysplasia Meyer-Schwickerath syndrome MFDA MFDM syndrome MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect MFM MFM5 MFM-titinopathy MFS MFS1 MFS2 MGA1 MGA2 MGA3 MGA4 MGA5 MGA7 MGA8 MGA9 MGAT2-CDG MHAC MHBD deficiency MHBD deficiency, classic type MHBD deficiency, infantile type MHBD deficiency, neonatal type MHC class I deficiency MHC class II deficiency M hemoglobinopathy MHF MHL mHPA MIC-CAP syndrome MIC-CM syndrome Michellis-Castrillo syndrome MICPCH Microblepharon-ablephara syndrome Microbrachycephaly-ptosis-cleft lip syndrome Microcephalia vera Microcephalic cortical malformations-short stature due to RTTN deficiency Microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic primordial dwarfism Microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism-insulin resistance syndrome Microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Walsh type Microcephaly-albinism-digital anomalies syndrome Microcephaly and chromosomal instability without immunodeficiency Microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-capillary malformation syndrome Microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome Microcephaly-cerebral malformation-orofaciodigital syndrome Microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Microcephaly-cutaneous capillary malformation syndrome Microcephaly-deafness-intellectual disability syndrome Microcephaly-digital anomalies-normal intelligence syndrome Microcephaly-digital anomalies-normal intelligence syndrome type 1 Microcephaly-digital anomalies-normal intelligence syndrome type 2 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome Microcephaly-faciocardioskeletal syndrome Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly-glomerulonephritis-marfanoid habitus syndrome Microcephaly-hearing loss-intellectual disability syndrome Microcephaly-hiatus hernia-nephrotic syndrome Microcephaly-hypergonadotropic hypogonadism-short stature syndrome Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome Microcephaly-immunodeficiency-lymphoid malignancy syndrome Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-tracheoesophageal fistula syndrome Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 Microcephaly-intracranial calcification-intellectual disability syndrome Microcephaly-lymphedema-chorioretinopathy syndrome Microcephaly-microcornea syndrome, Seemanova type Microcephaly-micromelia syndrome Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-limb abnormalities syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly vera Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome Microcystic infiltrating lymphatic malformation Microcystic lymphangioma Microcystic lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdontia-type I microtia-deafness syndrome Microdontia-type I microtia-hearing loss syndrome Microduplication 17p12 Microduplication Xp11.22p11.23 syndrome Microform holoprosencephaly Microform HPE Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly-micromelia syndrome Microlissencephaly type A Micromelic dysplasia-dislocation of radius syndrome Microphthalmia-ankyloblepharon-intellectual disability syndrome Microphthalmia-anophthalmia-coloboma Microphthalmia-anophthalmia-coloboma syndrome Microphthalmia-brain atrophy syndrome Microphthalmia-coloboma-rhizomelic skeletal dysplasia Microphthalmia-dermal aplasia-sclerocornea syndrome Microphthalmia, Lenz type Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Micropolyangiitis Microscopic polyangiitis Microscopic polyarteritis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Micro syndrome Microtia Microtia-aortic arch syndrome Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 Microvillous inclusion disease Microvillus inclusion disease Micturation-induced seizures Mid-aortic dysplastic syndrome Midaortic syndrome Mid-aortic syndrome MIDAS syndrome MIDD Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Middle interhemispheric fusion variant Middle interhemispheric variant of holoprosencephaly Midline brain malformation Midline cerebral malformation Midline cervical cleft Midline facial cleft Midline heart Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mievis-Verellen-Dumoulin syndrome Migrating partial epilepsy of infancy Migrating partial seizures of infancy Migratory myiasis MIH MIHF MIH type HPE MIHV Mikati-Najjar-Sahli syndrome Mikulicz disease Mild aldosterone synthase deficiency Mild Canavan disease Mild congenital F8 deficiency Mild congenital F9 deficiency Mild congenital factor IX deficiency Mild congenital factor VIII deficiency Mild hemophilia A Mild hemophilia B Mild HPA Mild hyperphenylalaninemia Mild nemaline myopathy Mild osteogenesis imperfecta Mild PBD-ZSD Mild peroxisomal disorder due to PEX10 deficiency Mild peroxisomal disorder due to PEX16 deficiency Mild peroxisomal disorder due to PEX2 deficiency Mild peroxisome biogenesis disorder-Zellweger spectrum disorder Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild PKU Mild PRPP synthetase superactivity Mild PRPS1 superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Milian atrophie blanche Miller-Dieker syndrome Miller Fisher syndrome Miller syndrome Mills syndrome Milroy disease MILS MIMIS Minamata disease MINDS syndrome MiNEN of pancreas Mineralocorticoid resistant hyperkalemia Minimally differentiated acute myeloblastic leukemia Minimal pigment oculocutaneous albinism type 1 Minkowski-Chauffard disease Minoxidil antenatal exposure MIR140-related SED MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome MIRAS Mirizzi syndrome Mirror hands and feets-nasal defects syndrome Mirror-image polydactyly Mirror polydactyly-vertebral segmentation-limbs defects syndrome MIS-C/A Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA Mitchell Syndrome MiT family translocation renal cell carcinoma MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetyl-coenzyme A thiolase deficiency Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial diabetes Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial encephalomyopathy-aminoacidopathy syndrome Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial membrane protein-associated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy-lactic acidosis-hearing loss syndrome Mitochondrial myopathy with reversible complex IV deficiency Mitochondrial myopathy with reversible COX deficiency Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial non-syndromic neurosensory deafness Mitochondrial non-syndromic neurosensory hearing loss Mitochondrial non-syndromic sensorineural deafness Mitochondrial non-syndromic sensorineural hearing loss Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral atresia Mitral regurgitation-deafness-skeletal anomalies syndrome Mitral regurgitation-hearing loss-skeletal anomalies syndrome Mitral valve agenesis Mitten hand Mixed AIHA Mixed autoinflammatory and autoimmune syndrome Mixed connective tissue disease Mixed cryoglobulinemia Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed cystic lymphatic malformation Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed functioning pituitary adenoma Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed germ cell tumor of CNS Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas Mixed neuronal-glial tumor Mixed oligoastrocytoma Mixed oligodendroglial and astrocytic tumor Mixed phenotype acute leukemia Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed renal tubular acidosis Mixed RTA Mixed sclerosing bone dystrophy Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed secreting pituitary adenoma Mixed-type autoimmune hemolytic anemia Miyoshi muscular dystrophy type 3 Miyoshi myopathy MJD MKD MKL1-related neutrophil motility defect ML 3 alpha/beta ML 3 gamma MLASA MLC MLCRD MLD MLD, adult form MLD, juvenile form MLD, late infantile form ML III alpha/beta ML III gamma MLS MLS syndrome MLT MMCAT syndrome MmD MMD3 MMDS1 MMDS2 MMDS3 MMDS4 MMDS5 MMEP syndrome MME-related autosomal dominant Charcot Marie Tooth disease type 2 MME-related autosomal dominant CMT2 MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 MMF MMF embryopathy MMI/CMZ embryofetopathy MMI/CMZ embryopathy MMIHS MMMT of the ovary MMN MMNCB MMND MMPEI MMPSI MMR syndrome MMT MMT type 1 MMT type 2 MNF1 MNF2 MNF3 MNGIE MOA MOBA syndrome Möbius syndrome MOCOD MOCOD type A MOCOD type B MOCOD type C MODED syndrome MODED syndrome type 1 Moderate and severe traumatic brain injury Moderate congenital F8 deficiency Moderate congenital F9 deficiency Moderate congenital factor IX deficiency Moderate congenital factor VIII deficiency Moderate hemophilia A Moderate hemophilia B Moderately-differentiated thymic neuroendocrine carcinoma Moderate multiminicore disease with hand involvement MODY MODY5 Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Moersch-Woltman syndrome Moeschler-Clarren syndrome MOGCT MOGS-CDG Mohr-Majewski syndrome Mohr syndrome Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Moniliform hair syndrome Monkey disease Monkey fever Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monoclonal MCAD Monocyte-B-natural killer-dendritic cell deficiency syndrome Monocytopenia and mycobacterial infection syndrome Monocytopenia with susceptibility to infections Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptin-melanocortin pathway anomaly MonoMAC Monomelic amyotrophy Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q22.2q22.3 Monosomy 11qter Monosomy 12p12.1 Monosomy 12q14 Monosomy 12q15q21.1 Monosomy 12qter Monosomy 13q12.3 Monosomy 13q14 Monosomy 13q32 Monosomy 13q34 Monosomy 14q11.2 Monosomy 14q12 Monosomy 14q22q23 Monosomy 14q22-q23 Monosomy 14q24.1q24.3 Monosomy 15q11.2 Monosomy 15q13.3 Monosomy 15q14 Monosomy 15q24 Monosomy 15q26 Monosomy 16p11.2p12.2 Monosomy 16p13.11 Monosomy 16p13.2 Monosomy 16q24.1 Monosomy 16q24.3 Monosomy 17p13.3 Monosomy 17q11 Monosomy 17q12 Monosomy 17q21.31 Monosomy 17q23.1q23.2 Monosomy 17qter Monosomy 18p Monosomy 18q Monosomy 19p13.12 Monosomy 19p13.13 Monosomy 19q13.11 Monosomy 1p21.3 Monosomy 1p31p32 Monosomy 1p35.2 Monosomy 1p36 Monosomy 1pter Monosomy 1q21.1 Monosomy 1q41q42 Monosomy 1q44 Monosomy 1qter Monosomy 20p12.3 Monosomy 20p13 Monosomy 20q11 Monosomy 20q13.33 Monosomy 21 Monosomy 21q22.11q22.12 Monosomy 21q22.13q22.2 Monosomy 22 Monosomy 22q11 Monosomy 22q13.3 Monosomy 2p15p16.1 Monosomy 2p21 Monosomy 2q23.1 Monosomy 2q24 Monosomy 2q31.1 Monosomy 2q32 Monosomy 2q32q33 Monosomy 2q33.1 Monosomy 2q37qter Monosomy 3p25.3 Monosomy 3pter Monosomy 3q13 Monosomy 3q26q27 Monosomy 3q29 Monosomy 3qter Monosomy 4q21 Monosomy 4qter Monosomy 5p Monosomy 5q14.3 Monosomy 5q31.3 Monosomy 5q35 Monosomy 6p22 Monosomy 6p25 Monosomy 6q16 Monosomy 6q25 Monosomy 7pter Monosomy 7q11.23 Monosomy 7q31 Monosomy 7qter Monosomy 8p11.2 Monosomy 8p23.1 Monosomy 8q13 Monosomy 8q21.11 Monosomy 8q22.1 Monosomy 8q24.3 Monosomy 9p Monosomy 9p13 Monosomy 9pter Monosomy 9q22.3 Monosomy 9q31.1q31.3 Monosomy 9q33.3q34.11 Monosomy X Monosomy Xq21 Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Moran-Barroso syndrome Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morning glory syndrome Morquio disease Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan fibrillary chorea Morvan syndrome Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal UPD Mosaic Legius syndrome Mosaic monosomy X Mosaic neurilemmomatosis Mosaic neurofibromatosis 1-like syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic neurofibromatosis type 3 Mosaic NF1 Mosaic NF1-like syndrome Mosaic NF2 Mosaic NF2-related schwannomatosis Mosaic paternal uniparental disomy of chromosome 11 Mosaic schwannomatosis Mosaic SWN Mosaic trisomy 1 Mosaic trisomy 10 Mosaic trisomy 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 2 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic trisomy 3 Mosaic trisomy 4 Mosaic trisomy 5 Mosaic trisomy 7 Mosaic trisomy 8 Mosaic trisomy 9 Mosaic trisomy chromosome 1 Mosaic trisomy chromosome 10 Mosaic trisomy chromosome 12 Mosaic trisomy chromosome 14 Mosaic trisomy chromosome 15 Mosaic trisomy chromosome 16 Mosaic trisomy chromosome 17 Mosaic trisomy chromosome 2 Mosaic trisomy chromosome 20 Mosaic trisomy chromosome 22 Mosaic trisomy chromosome 3 Mosaic trisomy chromosome 4 Mosaic trisomy chromosome 5 Mosaic trisomy chromosome 7 Mosaic trisomy chromosome 8 Mosaic trisomy chromosome 9 Mosaic variegated aneuploidy syndrome Moschcowitz disease MOTA syndrome Mother-to-child transmission of cytomegalovirus syndrome Mother-to-child transmission of enterovirus infection Mother-to-child transmission of Epstein-Barr virus infection Mother-to-child transmission of herpes simplex virus infection Mother-to-child transmission of parvovirus syndrome Mother-to-child transmission of rubella syndrome Mother-to-child transmission of syphilis Mother-to-child transmission of toxoplasmosis Mother-to-child transmission of varicella syndrome Motor neuron disease Motor stereotypies Mounier-Kühn syndrome Mountain fever Mountain tick fever Mousa-Al Din-Al Nassar syndrome Mouth and genital ulcers-inflamed cartilage syndrome Mowat-Wilson syndrome Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to monosomy 2q22 Moyamoya angiopathy Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism Moyamoya disease with early-onset achalasia Moynahan syndrome MPA MPAL MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 MPAL with t(v;11q23.3); KMT2A rearranged MPAL with t(v;11q23.3); MLL rearranged MPAN MPD MPD1 MPD3 MPDU1-CDG MPEI MPI-CDG mPKU MPN MPNST MPNST with rhabdomyosarcomatous differentiation MP OCA type 1 MPO deficiency MPPC syndrome MPPH syndrome MPS1 MPS1H MPS1H/S MPS1S MPS2 MPS2A MPS2B MPS3 MPS3A MPS3B MPS3C MPS3D MPS4 MPS4A MPS4B MPS6 MPS6, rapidly progressing MPS6, slowly progressing MPS7 MPS9 MPSI MPSI MPSIH MPSIH/S MPSII MPSIIA MPSIIB MPSIII MPSIIIA MPSIIIB MPSIIIC MPSIIID MPSIS MPSIV MPSIVA MPSIVB MPSIX MPSVI MPSVII MPSVI, rapidly progressing MPSVI, slowly progressing MPS with skin involvement MRAMS syndrome MRCLS MRCS syndrome MRGH MRKH syndrome MRKH syndrome type 1 MRKH syndrome type 2 MRXS7 MRXS9 MRXSH MSA MSA-c MSA, cerebellar type MSA-p MSA, parkinsonian type MSBD syndrome MSCAE MSD Mseleni joint disease MSH3-related AFAP MSH3-related attenuated familial adenomatous polyposis MSH3-related attenuated familial polyposis coli MSH3-related attenuated FAP MSK MSMA MSMB MSMD MSMD due to complete IFNgammaR1 deficiency MSMD due to complete IFNgammaR2 deficiency MSMD due to complete IL12B deficiency MSMD due to complete IL12RB1 deficiency MSMD due to complete interferon gamma receptor 1 deficiency MSMD due to complete interferon gamma receptor 2 deficiency MSMD due to complete interleukin 12B deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency MSMD due to complete ISG15 deficiency MSMD due to partial interferon regulatory factor 8 deficiency MSMD due to partial IRF8 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency MSMD due to partial STAT1 deficiency MSN-related combined immunodeficiency MSSD MSSE MSUD MT-ATP6-related mitochondrial spastic paraplegia MTC MTCT of syphilis mtDNA-associated Leigh syndrome mtDNA deletion syndrome with limb-girdle weakness mtDNA deletion syndrome with progressive myopathy mtDNA depletion syndrome mtDNA depletion syndrome, encephalomyopathic form mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies mtDNA depletion syndrome, hepatocerebral form mtDNA depletion syndrome, hepatocerebrorenal form mtDNA depletion syndrome, myopathic form mtDNA maintenance syndrome mtDNA maintenance syndrome due to MGME1 deficiency mtDNA-related cardiomyopathy and deafness mtDNA-related cardiomyopathy and hearing loss mtDNA-related dystonia mtDNA-related mitochondrial myopathy mtDNA-related progressive external ophthalmoplegia MTHFR deficiency MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome MTLE-HS MTO-deficiency MTT MTX-associated lymphoproliferative disorders MTX-LPD MUC1-related autosomal dominant tubulointerstitial kidney disease MUC1-related medullary cystic kidney disease Mucinous adenocarcinoma of ovary Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous cystadenoma of childhood Mucinous cystadenoma of ovary in childhood Mucinous tubular and spindle cell renal carcinoma MUCI-related ADTKD Muckle-Wells syndrome Mucocutaneous lymph node syndrome Mucocutaneous venous malformations Mucolipidosis Mucolipidosis type 3 alpha/beta Mucolipidosis type 3 gamma Mucolipidosis type II Mucolipidosis type II alpha/beta Mucolipidosis type III Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis-like plus disease Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 1H Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1S Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2A Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2B Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type II Mucopolysaccharidosis type IIA Mucopolysaccharidosis type II, attenuated form Mucopolysaccharidosis type IIB Mucopolysaccharidosis type III Mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIC Mucopolysaccharidosis type IIID Mucopolysaccharidosis type II, severe form Mucopolysaccharidosis type IS Mucopolysaccharidosis type IV Mucopolysaccharidosis type IVA Mucopolysaccharidosis type IVB Mucopolysaccharidosis type IX Mucopolysaccharidosis type VI Mucopolysaccharidosis type VII Mucopolysaccharidosis type VI, rapidly progressing Mucopolysaccharidosis type VI, slowly progressing Mucopolysaccharidosis with skin involvement Mucormycosis Mucosa-associated lymphatic tissue lymphoma Mucosa-associated lymphoid tissue lymphoma Mucosal pemphigoid Mucosulfatidosis Mucosynechial pemphigoid Mucous membrane pemphigoid Mucoviscidosis Mudd's disease Mueller-Weiss osteonecrosis of the tarsal bone Mueller-Weiss syndrome Muenke syndrome mu-HCD Mu-heavy chain disease MUHH Muir-Torre syndrome MUL Mulibrey growth disorder Mulibrey nanism Müllerian aplasia Müllerian aplasia and hyperandrogenism Müllerian derivatives-lymphangiectasia-polydactyly syndrome Müllerian duct anomalies-limb anomalies syndrome Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome Müllerian duct failure Müllerian duct failure and hyperandrogenism Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric osteolysis-nodulosis-arthropathy spectrum Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic mesothelioma Multicystic renal dysplasia Multifocal acquired demyelinating sensory and motor neuropathy Multifocal atrial tachycardia Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal motor neuropathy with conduction block Multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal pattern dystrophy simulating Stargardt disease Multilocular clear cell adenocarcinoma Multilocular clear cell carcinoma Multilocular clear cell renal cell adenocarcinoma Multilocular clear cell renal cell carcinoma Multilocular cystic renal cell adenocarcinoma Multilocular cystic renal cell carcinoma Multilocular cystic renal neoplasm of low malignant potential Multilocular cyst of the kidney Multilocular peritoneal inclusion cyst Multilocular renal cyst Multiloculated renal cyst Multiminicore disease Multiminicore myopathy Multinodular goiter-cystic kidney-polydactyly syndrome Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple benign circumferential skin creases on limbs Multiple carboxylase deficiency Multiple cartilaginous exostoses Multiple congenital anomalies/dysmorphic syndrome Multiple congenital anomalies/dysmorphic syndrome-intellectual disability Multiple congenital anomalies/dysmorphic syndrome without intellectual disability Multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 3 Multiple congenital anomalies-intellectual disability with or without dysmorphism Multiple congenital anomalies without intellectual disability with or without dysmorphism Multiple congenital arthrogryposis Multiple contracture syndrome, Finnish type Multiple contracture syndrome, Israeli-Bedouin type Multiple cutaneous and uterine leiomyomas Multiple endocrine deficiency-Addison disease-candidiasis syndrome Multiple endocrine neoplasia 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 Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome Multiple epiphyseal dysplasia-myopia-deafness syndrome Multiple epiphyseal dysplasia-myopia-hearing loss syndrome Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia with Robin phenotype Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple glomus tumors Multiple hamartoma syndrome Multiple intestinal atresia Multiple isolated café-au-lait spots Multiple isolated café-au-lait syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome Multiple keratoacanthoma Multiple keratoacanthoma, Ferguson-Smith type Multiple keratoacanthoma, Muir-Torre type Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple mtDNA deletion syndrome Multiple myeloma Multiple ossifying fibroma Multiple osteochondromas Multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple polyglandular tumor Multiple pterygium-malignant hyperthermia syndrome Multiple pterygium syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sclerosis variant Multiple self-healing squamous epithelioma Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple system atrophy Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multisystem atrophy Multisystemic smooth muscle dysfunction syndrome Multisystem inflammatory syndrome in children and adults Mulvihill-Smith syndrome MURCS association Murine typhus Murray-Puretic-Drescher syndrome Muscle enolase deficiency Muscle-eye-brain disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain syndrome Muscle filaminopathy Muscle-liver-brain-eye nanism Muscle phosphoglycerate mutase deficiency Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Muscular channelopathy Muscular dystrophy Muscular dystrophy, Selcen type Muscular dystrophy with progressive weakness, distal contractures and rigid spine Muscular enolase deficiency Muscular glycogenosis Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome Muscular lipidosis Muscular pseudohypertrophy-hypothyroidism syndrome Muscular tumor Musculocontractural EDS Musculocontractural Ehlers-Danlos syndrome Musculoskeletal disease with cataract Mutchinick syndrome Mutilating hereditary sensory neuropathy with spastic paraplegia Mutilating HSAN with spastic paraplegia Mutilating keratoderma of Vohwinkel Mutilating keratoderma plus deafness Mutilating keratoderma plus hearing loss Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Mutilating palmoplantar keratoderma with periorificial keratotic plaques MUTYH-related AFAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli MUTYH-related attenuated FAP MVA MVID Myalgia-eosinophilia syndrome associated with tryptophan Myasthenia gravis MYBPC1-related autosomal recessive non-lethal AMC syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycophenolate mofetil embryopathy Mycoplasma encephalitis Mycosis fungoides, Alibert-Bazin type Mycosis fungoides and variants Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelocerebellar disorder Myelocystocele Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome Myelodysplastic/myeloproliferative disease Myelodysplastic syndrome Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelofibrosis with myeloid metaplasia Myeloid hemopathy Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloid sarcoma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative disorder Myeloproliferative neoplasm MYH7-related late-onset scapuloperoneal muscular dystrophy MYH7-related late-onset scapuloperoneal syndrome MYH7-related late-onset SPMD MYH9-RD MYH9-related disease MYH9-related disorder MYH9-related syndrome MYH9-related syndromic thrombocytopenia Myhre-Riley-Smith syndrome Myhre syndrome Myiasis MYO5B deficiency MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myoclonic-astatic epilepsy Myoclonic-astatic epilepsy in early childhood Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy in non-progressive encephalopathies Myoclonic epilepsy of infancy Myoclonic status in non-progressive encephalopathies Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-cerebellar ataxia-hearing loss syndrome Myoclonus-dystonia syndrome Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus epilepsy associated with ragged-red fibres Myoclonus epilepsy in non-progressive encephalopathies Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy-titinopathy Myofibrillar myopathy with early respiratory failure Myopathic EDS Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to phosphoglycerate mutase deficiency Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopericytoma Myophosphorylase deficiency Myopic macular degeneration Myopic maculopathy Myosclerosis Myosin storage myopathy Myositis ossificans progressiva Myositis purulenta tropica Myositis tropicans Myospherulosis Myotilinopathy Myotonia congenita Myotonia fluctuans Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonia permanens Myotonic chondrodystrophy Myotonic dystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Myotonic syndrome MYSM1 deficiency Myxofibrosarcoma Myxoid malignant fibrous histiocytoma Myxoid/round cell liposarcoma Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxoma with fibrous dysplasia Myxopapillary ependymoma
