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1843 Result(s)
- M hemoglobinopathy
- Mabry syndrome
- MAC
- MAC
- Mac Duffie hypocomplementemic urticarial vasculitis
- Mac Duffie syndrome
- MacDermot-Patton-Williams syndrome
- MacDermot-Winter 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-congenital heart disease-facial dysmorphism-intellectual disability 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-intellectual 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
- 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 with mitral valve insufficiency
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- MACS syndrome
- Macular amyloidosis
- Macular coloboma-cleft palate-hallux valgus syndrome
- Macular corneal dystrophy
- Maculopapular cutaneous mastocytosis
- MAD
- MAD deficiency
- MAD deficiency, mild type
- MAD deficiency, severe neonatal type
- MADA
- MADaM
- MADD
- MADD, mild type
- MADD, severe neonatal type
- MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
- Madelung disease
- Madras motor neuron disease
- MADSAM
- Madura foot
- MAE
- Maeda syndrome
- Maffucci syndrome
- MAGIC syndrome
- Mahvash disease
- Majeed syndrome
- Majewski osteodysplastic primordial dwarfism type II
- Major omphalocele
- Mal de débarquement
- Mal de Meleda
- Malakoplakia
- Malan overgrowth syndrome
- Malaria
- Malattia leventinese
- 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 chromosome Y microdeletion
- 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
- Malformation of the anal canal and the rectum
- Malformation of the cerebellar hemispheres
- Malformation of the cerebellar vermis
- Malformation of the esophagus
- Malformation of the intestine
- Malformation of the neurenteric canal, spinal cord and column
- Malformation of the stomach and the duodenum
- Malformation syndrome
- Malformation syndrome with hamartosis
- Malformation syndrome with odontal and/or periodontal component
- Malformation syndrome with short stature
- Malformative syndrome with dentinogenesis imperfecta
- Malignancy diagnosed during pregnancy
- Malignant angioendotheliomatosis
- Malignant atrophic papulosis
- Malignant carcinoid syndrome
- 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 granulosa cell tumor of the ovary
- Malignant hyperthermia of anesthesia
- Malignant hyperthermia-arthrogryposis-torticollis syndrome
- Malignant lymphoma with peripheral neuropathy
- Malignant melanoma of meninges
- Malignant melanoma of the mucosa
- Malignant mesenchymal tumor
- Malignant mesenchymal tumor of cervix uteri
- Malignant mesothelioma of the tunica vaginalis
- 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 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
- Malignant vascular tumor
- Malleus
- Malonic acidemia
- Malonic aciduria
- Malonyl-CoA decarboxylase deficiency
- Malouf syndrome
- Malposition of a coronary ostium
- Malposition of external canthus
- Malpuech-Michels-Mingarelli-Carnevale syndrome
- MALS
- MALT lymphoma
- Maltase-glucoamylase deficiency
- MALToma
- Mammary Paget disease
- Mammary-digital-nail syndrome
- MAN1B1-CDG
- MAN2B2-CDG
- MAN2B2-congenital disorder of glycosylation
- Man5GlcNAc2-PP-Dol flippase deficiency
- Mandibular arteriovenous malformation
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
- Mandibular hypoplasia-hearing loss-progeroid syndrome
- Mandibulo-palpebral synkinesis-ptosis syndrome
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia associated to MTX2
- Mandibuloacral dysplasia progeroid syndrome
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis
- Mandibulofacial dysostosis with alopecia
- Mandibulofacial dysostosis with postaxial limb anomalies
- Mandibulofacial dysostosis with preaxial limb anomalies
- Mandibulofacial dysostosis without limb anomalies
- Mandibulofacial dysostosis, Guion-Almeida type
- Mandibulofacial dysostosis, Toriello type
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Manganese intoxication
- Manganese poisoning
- Manganism
- Manitoba oculotrichoanal syndrome
- Mannosidase alpha class 2B member 2-congenital disorder of glycosylation
- 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
- Map-dot-fingerprint dystrophy
- Maple syrup urine disease
- Marbach-Rustad progeroid syndrome
- Marbach-Schaaf neurodevelopmental syndrome
- Marble brain disease
- Marburg acute multiple sclerosis
- Marburg hemorrhagic fever
- Marburg virus disease
- MARCH syndrome
- Marchiafava-Bignami disease
- Marchiafava-Micheli disease
- Marcus-Gunn phenomenon
- Marcus-Gunn syndrome
- Marden-Walker syndrome
- Marden-Walker-like syndrome
- Mardini-Nyhan syndrome
- Marfan syndrome
- Marfan syndrome and Marfan-related disorders
- Marfan syndrome type 1
- Marfan syndrome type 2
- Marfanoid craniosynostosis syndrome
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
- Marfanoid habitus-inguinal hernia-advanced bone age syndrome
- Marfanoid syndrome, De Silva type
- 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 syndrome
- Marles-Greenberg-Persaud syndrome
- Maroteaux-Lamy disease
- Maroteaux-Le Merrer-Bensahel syndrome
- Maroteaux-Malamut syndrome
- Maroteaux-Stanescu-Cousin syndrome
- Maroteaux-Verloes-Stanescu syndrome
- Marshall syndrome
- Marshall syndrome with periodic fever
- Marshall-Smith syndrome
- Marsili syndrome
- Martin-Bell syndrome
- Martin-Probst syndrome
- Martinique crinkled retinal pigment epitheliopathy
- Martsolf syndrome
- Martsolf-like syndrome
- MASA syndrome
- MASNS
- Masson's hemangioma
- Masson's tumor
- Masson's vegetant intravascular hemangiendothelioma
- Mast cell leukemia
- Mast cell sarcoma
- Mast syndrome
- Mastitis carcinomatosa
- Mastocytosis
- Mastocytosis-short stature-deafness syndrome
- Mastocytosis-short stature-hearing loss syndrome
- MAT
- MAT I/III deficiency
- Maternal anti-Kell alloimmunization
- Maternal del(14)(q32.2)
- Maternal disease-related embryofetopathy
- Maternal hyperphenylalaninemia
- Maternal hyperthermia-induced birth defects
- Maternal monosomy 14q32.2
- Maternal phenylketonuria syndrome
- Maternal PKU syndrome
- Maternal riboflavin deficiency
- Maternal uniparental disomy of chromosome 1 syndrome
- Maternal uniparental disomy of chromosome 13 syndrome
- Maternal uniparental disomy of chromosome 16 syndrome
- Maternal uniparental disomy of chromosome 2 syndrome
- Maternal uniparental disomy of chromosome 20 syndrome
- Maternal uniparental disomy of chromosome 21 syndrome
- Maternal uniparental disomy of chromosome 22 syndrome
- Maternal uniparental disomy of chromosome 4 syndrome
- Maternal uniparental disomy of chromosome 6 syndrome
- Maternal uniparental disomy of chromosome 9 syndrome
- Maternal uniparental disomy of chromosome X syndrome
- Maternal uniparental disomy syndrome
- Maternal UPD(20)
- Maternally-inherited cardiomyopathy and deafness
- Maternally-inherited chronic progressive external ophthalmoplegia
- Maternally-inherited CPEO
- 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
- Mathieu-De Broca-Bony syndrome
- 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
- May-Thurner syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome type 1
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Mazabraud syndrome
- Mazzanti syndrome
- MBD
- MBD4-related tumor predisposition syndrome
- MBEN
- MC type II
- MC type III
- MC-HGA
- MC4R deficiency
- MCA without intellectual disability
- MCA/MR
- MCAD deficiency
- MCADD
- MCAHS type 2
- MCAHS type 3
- MCAP
- McArdle disease
- MCC
- MCC deficiency
- McCabe disease
- MCCD
- 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
- MCTT
- MCUL
- MD
- MDC
- MDC1A
- MDC1B
- MdD
- MDDGA
- MdDS
- MDK
- MDN syndrome
- MDP syndrome
- MDPL syndrome
- MDPS
- MDS with excess blasts
- MDS-IB
- MDS-IB1
- MDS-IB2
- MDS-LB
- MDSC
- Meacham syndrome
- Meacham-Winn-Culler syndrome
- MEAK
- MEB disease with bilateral multicystic leucodystrophy
- MEB syndrome
- MECD
- Meckel syndrome
- Meckel syndrome type 7
- Meckel-Gruber syndrome
- Meckel-like syndrome type 1
- Meconium aspiration syndrome
- Meconium ileus due to guanylate cyclase 2C deficiency
- MECP2 duplication syndrome
- MECP2-related severe neonatal encephalopathy
- MED
- Med-DLBCL
- MED1
- MED12-related Hardikar syndrome
- MED13L-related intellectual disability syndrome
- MED4
- MED5
- MED7
- MEDAC syndrome
- Medeira-Dennis-Donnai syndrome
- Medial condensing osteitis of the clavicle
- Median arcuate ligament syndrome
- Median cleft face syndrome
- Median cleft lip/mandible
- Median cleft lower facial stage
- Median cleft of the lower lip and mandible
- 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 mandibular 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
- Meesmann corneal dystrophy
- Meester-Loeys syndrome
- MEF2C-related syndrome
- Mega-cisterna magna
- Megacolon-microcephaly syndrome
- Megaconial congenital muscular dystrophy
- Megacystis-megaureter syndrome
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis 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-capillary malformation syndrome
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Megalencephaly-cutis marmorata telangiectatica congenita syndrome
- Megalencephaly-cystic leukodystrophy syndrome
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
- Megalocornea-intellectual disability syndrome
- Megalocornea-spherophakia-secondary glaucoma syndrome
- Megaureter-megacystis syndrome
- MEGDEL syndrome
- Mehes syndrome
- MEHMO syndrome
- MEI
- Meier-Blumberg-Imahorn syndrome
- Meier-Gorlin syndrome
- Meige disease
- Meige dystonia
- Meige lymphedema
- Meige syndrome
- Meigs syndrome
- MEITL
- Melanesian elliptocytosis
- Melanesian ovalocytosis
- Melanoma and neural system tumor syndrome
- Melanoma of choroid
- Melanoma of soft tissue
- Melanoma of uvea
- Melanoma-astrocytoma syndrome
- 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
- MEND syndrome
- 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 complete RAR related orphan receptor C deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor 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 JAK1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 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
- 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, Langer type
- Mesomelic dwarfism, Nievergelt type
- Mesomelic dwarfism, Reinhardt-Pfeiffer type
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Mesomelic dwarfism-small genitalia syndrome
- Mesomelic dysplasia with absent fibulas and triangular tibias
- Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
- 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-digital anomalies-intellectual disability syndrome
- Mesothelioma of the tunica vaginalis
- Mesulam syndrome
- Metabolic disease due to other fatty acid oxidation disorder
- Metabolic disease involving other neurotransmitter deficiency
- Metabolic disease with cataract
- Metabolic disease with dementia
- Metabolic disease with intestinal involvement
- Metabolic disease with skin involvement
- Metabolic diseases with epilepsy
- 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 anadysplasia
- Metaphyseal chondrodysplasia, Jansen type
- Metaphyseal chondrodysplasia, Kaitila type
- Metaphyseal chondrodysplasia, McKusick type
- Metaphyseal chondrodysplasia, Rosenberg 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, Pyle type
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- Metaplastic carcinoma of the breast
- Metastases without primary tumor
- Metastatic vascular neoplasm
- Metatropic dwarfism
- Metatropic dysplasia
- Methacrylic aciduria
- Methanethiol oxidase deficiency
- Methanol poisoning
- Methimazole embryofetopathy
- Methimazole/carbimazole embryofetopathy
- Methimazole/carbimazole embryopathy
- Methionine adenosyltransferase I/III deficiency
- Methotrexate toxicity
- Methotrexate-associated lymphoproliferative disorders
- Methylcobalamin deficiency
- Methylcobalamin deficiency type cblDv1
- Methylcobalamin deficiency type cblE
- Methylcobalamin deficiency type cblG
- Methylene tetrahydrofolate reductase deficiency
- Methylenetetrahydrofolate dehydrogenase 1 deficiency
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
- Methylmalonic acidemia with homocystinuria
- Methylmalonic acidemia with homocystinuria type cblF
- Methylmalonic acidemia with homocystinuria, type cblC
- Methylmalonic acidemia with homocystinuria, type cblD
- Methylmalonic acidemia with homocystinuria, type cblJ
- Methylmalonic acidemia with homocystinuria, type cblX
- Methylmalonic acidemia without homocystinuria
- Methylmalonic acidemia, TCb1R type
- Methylmalonic acidemia, TCbIR type
- 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
- Metopic ridging-ptosis-facial dysmorphism syndrome
- Mevalonate kinase deficiency
- Mevalonic aciduria
- MEWDS
- Meyer dysplasia
- Meyer-Schwickerath syndrome
- Meyer-Schwickerath-Weyers syndrome
- MFDA
- MFDM syndrome
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- MFHIEN
- MFM
- MFM-titinopathy
- MFM5
- MFS
- MFS1
- MFS2
- MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- MGA1
- MGA2
- MGA3
- MGA4
- MGA5
- MGA7
- MGA8
- MGA9
- MGAT2-CDG
- MGP-related SED
- MGP-related spondyloepiphyseal dysplasia
- MHAC
- MHBD deficiency
- MHBD deficiency, classic type
- MHBD deficiency, infantile type
- MHBD deficiency, neonatal type
- MHC class I deficiency
- MHC class II deficiency
- MHF
- MHL
- mHPA
- MIC-CAP syndrome
- MIC-CM syndrome
- Michellis-Castrillo syndrome
- MICPCH
- Micro syndrome
- 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 type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
- Microcephalic primordial dwarfism
- Microcephalic primordial dwarfism due to ZNF335 deficiency
- Microcephalic primordial dwarfism, Alazami type
- Microcephalic primordial dwarfism, Dauber type
- Microcephalic primordial dwarfism, Montreal type
- Microcephalic primordial dwarfism, Toriello type
- Microcephalic primordial dwarfism, Walsh type
- Microcephalic primordial dwarfism-insulin resistance syndrome
- Microcephaly and chromosomal instability without immunodeficiency
- Microcephaly vera
- Microcephaly-albinism-digital anomalies syndrome
- 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-facial dysmorphism-intellectual disability 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-facio-cardio-skeletal syndrome, Hadziselimovic type
- Microcephaly-faciocardioskeletal syndrome
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability 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 syndrome
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
- Microcephaly-short stature-limb abnormalities syndrome
- Microcephaly-thin corpus callosum-intellectual disability syndrome
- 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
- Microdeletion of the AZF region on the Y chromosome
- 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 type A
- Microlissencephaly-micromelia syndrome
- Micromelic dysplasia-dislocation of radius 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
- Microphthalmia, Lenz type
- 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-microtia-fetal akinesia syndrome
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
- Micropolyangiitis
- Microscopic polyangiitis
- Microscopic polyarteritis
- Microspherophakia-metaphyseal dysplasia syndrome
- Microsporidiosis
- Microtia
- Microtia-aortic arch syndrome
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- Microtriplication 11q24.1 syndrome
- Microvenular haemangioma
- Microvillous inclusion disease
- Microvillus inclusion disease
- Micturation-induced seizures
- Mid-aortic dysplastic syndrome
- Mid-aortic syndrome
- Mid-dermal elastolysis
- Midaortic syndrome
- MIDAS syndrome
- Middle and/or inner ear anomaly
- Middle aortic coarctation
- Middle aortic syndrome
- Middle ear neuroendocrine tumor
- Middle East respiratory syndrome
- Middle interhemispheric fusion variant
- Middle interhemispheric variant of holoprosencephaly
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
- Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome
- 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
- MIH type HPE
- MIHF
- 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 form of COL6-related dystrophy
- Mild form of collagen VI-related dystrophy
- 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 Fisher syndrome
- Miller syndrome
- Miller-Dieker syndrome
- Mills syndrome
- Milroy disease
- MILS
- MIMIS
- MINDS syndrome
- MiNEN of pancreas
- Mineralocorticoid resistant hyperkalemia
- Minimal pigment oculocutaneous albinism type 1
- Minimally differentiated acute myeloblastic leukemia
- Minkowski-Chauffard disease
- Minor omphalocele
- Minoxidil antenatal exposure
- MIR140-related SED
- MIR140-related spondyloepiphyseal dysplasia
- MIRAGE syndrome
- MIRAS
- Mirizzi syndrome
- Mirror hands and feets-nasal defects syndrome
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- Mirror-image polydactyly
- MIS-C/A
- Miscellaneous movement disorder due to genetic neurodegenerative disease
- Miscellaneous movement disorder due to neurodegenerative disease
- MISSLA
- MiT family translocation renal cell carcinoma
- Mitchell Syndrome
- MITF-related melanoma and renal cell carcinoma predisposition syndrome
- Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
- Mitochondrial aspartate-glutamate carrier 1 deficiency
- 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 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-associated Leigh syndrome
- 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 due to combined oxidative phosphorylation defect 6
- Mitochondrial encephalomyopathy due to COXPD6
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
- Mitochondrial encephalomyopathy-aminoacidopathy syndrome
- 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 with reversible complex IV deficiency
- Mitochondrial myopathy with reversible COX deficiency
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
- Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial non-syndromic neurosensory deafness
- Mitochondrial non-syndromic neurosensory hearing loss
- 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 short-chain enoyl-CoA hydratase 1 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
- ML III alpha/beta
- ML III gamma
- MLASA
- MLC
- MLCRD
- MLD
- MLD, adult form
- MLD, juvenile form
- MLD, late infantile form
- MLS
- MLS syndrome
- MLT
- MLYCD deficiency
- MMC
- MMCAT syndrome
- MmD
- MMD3
- MMDS1
- MMDS2
- MMDS3
- MMDS4
- MMDS5
- 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
- MMEP syndrome
- 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
- MN1 C-terminal truncation syndrome
- MNF1
- MNF2
- MNF3
- MNGIE
- MOA
- MOBA 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
- Moderate multiminicore disease with hand involvement
- Moderately-differentiated thymic neuroendocrine carcinoma
- MODY
- MODY5
- Moebius syndrome
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- Moersch-Woltman syndrome
- Moeschler-Clarren syndrome
- MOGCT
- MOGS-CDG
- Mohr syndrome
- Mohr-Majewski 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
- Monogenic diabetes of infancy
- Monogenic diabetes of infancy
- Monogenic disease with epilepsy
- Monogenic obesity due to a leptin-melanocortin pathway anomaly
- Monogenic SRNS
- Monomelic amyotrophy
- Monomorphic epitheliotropic intestinal T-cell lymphoma
- 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
- Monosomy 12qter
- Monosomy 13q12.3
- Monosomy 13q14 syndrome
- Monosomy 13q32
- Monosomy 13q34 syndrome
- Monosomy 14q11.2
- Monosomy 14q12
- Monosomy 14q22-q23
- Monosomy 14q22q23
- 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 syndrome
- Monosomy 18q syndrome
- 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 21q22.11q22.12
- Monosomy 21q22.13q22.2
- Monosomy 22 syndrome
- Monosomy 22q11
- Monosomy 2p15p16.1
- Monosomy 2p21
- Monosomy 2q23.1
- Monosomy 2q24
- Monosomy 2q31.1
- Monosomy 2q32q33
- Monosomy 2q33.1
- Monosomy 2q37qter
- Monosomy 3p25.3
- Monosomy 3pter
- Monosomy 3q13
- Monosomy 3q26q28
- Monosomy 3q29
- Monosomy 3qter
- Monosomy 4q21
- Monosomy 4qter
- Monosomy 5p syndrome
- Monosomy 5q14.3
- Monosomy 5q31.3
- Monosomy 5q35
- Monosomy 6p22
- Monosomy 6p25
- Monosomy 6pter
- Monosomy 6q16
- Monosomy 6q25.2q25.3
- 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 syndrome
- Monosomy 9p13
- Monosomy 9pter
- Monosomy 9q22.3 syndrome
- Monosomy 9q31.1q31.3
- Monosomy 9q33.3q34.11
- Monosomy X syndrome
- Monosomy Xq21
- Monostotic fibrous dysplasia
- Montgomery syndrome
- Mooren ulcer
- MOPD type II
- MOPD types I and III
- 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 syndrome
- Mosaic genome-wide paternal UPD
- Mosaic Legius syndrome
- Mosaic monosomy X syndrome
- 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 syndrome
- Mosaic trisomy 10 syndrome
- Mosaic trisomy 12 syndrome
- Mosaic trisomy 14 syndrome
- Mosaic trisomy 15 syndrome
- Mosaic trisomy 16 syndrome
- Mosaic trisomy 17 syndrome
- Mosaic trisomy 2 syndrome
- Mosaic trisomy 20 syndrome
- Mosaic trisomy 22 syndrome
- Mosaic trisomy 3 syndrome
- Mosaic trisomy 4 syndrome
- Mosaic trisomy 5 syndrome
- Mosaic trisomy 7 syndrome
- Mosaic trisomy 8 syndrome
- Mosaic trisomy 9 syndrome
- 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 delay-microcephaly-speech impairment-ocular abnormalities 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 with early-onset achalasia
- Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
- Moynahan syndrome
- MP OCA type 1
- 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
- MPO deficiency
- MPPC syndrome
- MPPH syndrome
- MPS with skin involvement
- MPS1
- MPS10
- 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
- MPSVI, rapidly progressing
- MPSVI, slowly progressing
- MPSVII
- MRAMS syndrome
- MRCLS
- MRCS syndrome
- MRGH
- MRKH syndrome
- MRKH syndrome type 1
- MRKH syndrome type 2
- MRUPAV
- MRXS7
- MRXS9
- MRXSH
- MSA
- MSA, cerebellar type
- MSA, parkinsonian type
- MSA-c
- MSA-p
- 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 12 receptor beta 1 deficiency
- MSMD due to complete interleukin 12B deficiency
- MSMD due to complete ISG15 deficiency
- MSMD due to complete RORgamma receptor defiency
- MSMD due to partial interferon regulatory factor 8 deficiency
- MSMD due to partial IRF8 deficiency
- MSMD due to partial JAK1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- MSMD due to partial STAT1 deficiency
- MSN-related combined immunodeficiency
- MSP type X
- MSSD
- MSSE
- MSUD
- MT-ATP6-related mitochondrial spastic paraplegia
- MTC
- MTCT of syphilis
- 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-associated Leigh syndrome
- 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
- MTS
- MTT
- MTX-associated lymphoproliferative disorders
- MTX-LPD
- mu-HCD
- Mu-heavy chain disease
- MUC1-related autosomal dominant tubulointerstitial kidney disease
- MUC1-related medullary cystic kidney disease
- MUCI-related ADTKD
- 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
- 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 due to ARSK deficiency
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 10
- Mucopolysaccharidosis type 1H
- Mucopolysaccharidosis type 1H/S
- Mucopolysaccharidosis type 1S
- Mucopolysaccharidosis type 2
- Mucopolysaccharidosis type 2, attenuated form
- Mucopolysaccharidosis type 2, early progressive form
- Mucopolysaccharidosis type 2, neuropathic form
- Mucopolysaccharidosis type 2, non-neuropathic form
- Mucopolysaccharidosis type 2, severe form
- Mucopolysaccharidosis type 2, slowly progressive form
- Mucopolysaccharidosis type 2A
- Mucopolysaccharidosis type 2B
- 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 II, attenuated form
- Mucopolysaccharidosis type II, severe form
- Mucopolysaccharidosis type IIA
- Mucopolysaccharidosis type IIB
- Mucopolysaccharidosis type III
- Mucopolysaccharidosis type IIIA
- Mucopolysaccharidosis type IIIB
- Mucopolysaccharidosis type IIIC
- Mucopolysaccharidosis type IIID
- Mucopolysaccharidosis type IS
- Mucopolysaccharidosis type IV
- Mucopolysaccharidosis type IVA
- Mucopolysaccharidosis type IVB
- Mucopolysaccharidosis type IX
- Mucopolysaccharidosis type VI
- Mucopolysaccharidosis type VI, rapidly progressing
- Mucopolysaccharidosis type VI, slowly progressing
- Mucopolysaccharidosis type VII
- Mucopolysaccharidosis type X
- Mucopolysaccharidosis with skin involvement
- Mucopolysaccharidosis-like plus disease
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- 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
- MUHH
- MUL
- Mulibrey growth disorder
- Mulibrey nanism
- 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 infantile hemangioma with extracutenous involvement
- Multifocal lymphangioendotheliomatosis with thrombocytopenia
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Multifocal motor neuropathy
- Multifocal motor neuropathy with conduction block
- Multifocal pattern dystrophy simulating fundus flavimaculatus
- Multifocal pattern dystrophy simulating Stargardt disease
- Multifocal tuberculosis
- Multilocular clear cell adenocarcinoma
- Multilocular clear cell carcinoma
- Multilocular clear cell renal cell adenocarcinoma
- Multilocular clear cell renal cell carcinoma
- Multilocular cyst of the kidney
- Multilocular cystic renal cell adenocarcinoma
- Multilocular cystic renal cell carcinoma
- Multilocular cystic renal neoplasm of low malignant potential
- 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 without intellectual disability with or without dysmorphism
- 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-neurodevelopmental delay-ocular abnormalities syndrome
- Multiple congenital anomalies/dysmorphic syndrome
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Multiple congenital arthrogryposis
- Multiple contracture syndrome, Finnish type
- Multiple contracture syndrome, Israeli-Bedouin type
- Multiple cutaneous and uterine leiomyomas
- Multiple Enchondromatosis type I
- Multiple Enchondromatosis type II
- Multiple Enchondromatosis, Maffucci Type
- Multiple Enchondromatosis, Ollier type
- 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 and pseudoachondroplasia
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Multiple epiphyseal dysplasia type 1
- Multiple epiphyseal dysplasia type 4
- Multiple epiphyseal dysplasia type 5
- Multiple epiphyseal dysplasia type 7
- Multiple epiphyseal dysplasia with Robin phenotype
- Multiple epiphyseal dysplasia, Al-Gazali type
- Multiple epiphyseal dysplasia, Lowry type
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
- Multiple epiphyseal dysplasia-miniepiphyses syndrome
- Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
- Multiple evanescent white dot syndrome
- Multiple glomus tumors
- Multiple hamartoma syndrome
- 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 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 syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Multiple sclerosis variant
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- 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
- Multisystem histiocytosis X
- Multisystem inflammatory syndrome in children and adults
- Multisystem Langerhans cell granulomatosis
- Multisystem Langerhans cell histiocytosis
- Multisystemic smooth muscle dysfunction syndrome
- Mulvihill-Smith syndrome
- MURCS association
- Murine typhus
- Murray-Puretic-Drescher syndrome
- Muscle enolase deficiency
- Muscle filaminopathy
- Muscle phosphoglycerate mutase deficiency
- Muscle-eye-brain disease
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Muscle-eye-brain syndrome
- Muscle-liver-brain-eye nanism
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- Muscular channelopathy
- Muscular dystrophy
- Muscular dystrophy with progressive weakness, distal contractures and rigid spine
- Muscular dystrophy, Selcen type
- 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
- MVH
- 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 and variants
- Mycosis fungoides, Alibert-Bazin type
- Mycosis fungoides-associated follicular mucinosis
- Mycotic keratitis
- MyeLDM
- Myelic limited dorsal malformation
- 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 neoplasm with increased blasts
- Myelodysplastic neoplasm with increased blasts type 1
- Myelodysplastic neoplasm with increased blasts type 2
- Myelodysplastic neoplasm with low blasts
- Myelodysplastic syndrome
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
- Myelodysplastic/myeloproliferative disease
- Myelofibrosis with myeloid metaplasia
- Myeloid hemopathy
- Myeloid sarcoma
- 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
- Myelomatosis
- Myelomeningocele
- Myeloperoxidase deficiency
- Myeloproliferative disorder
- Myeloproliferative neoplasm
- Myeloschisis
- MYH9-RD
- MYH9-related disorder
- MYH9-related syndrome
- MYH9-related syndromic thrombocytopenia
- Myhre syndrome
- Myhre-LAPS syndrome
- Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
- Myhre-Riley-Smith syndrome
- Myiasis
- MYO5B deficiency
- MYO5B-related progressive familial intrahepatic cholestasis
- Myoadenylate deaminase deficiency
- Myoclonic atonic epilepsy
- Myoclonic dystonia
- Myoclonic epilepsy in non-progressive encephalopathies
- Myoclonic epilepsy of infancy
- Myoclonic status in non-progressive encephalopathies
- Myoclonic-astatic epilepsy in early childhood
- Myoclonus epilepsy and ataxia due to potassium channel mutation
- Myoclonus epilepsy associated with ragged-red fibres
- Myoclonus epilepsy in non-progressive encephalopathies
- Myoclonus-cerebellar ataxia-deafness syndrome
- Myoclonus-cerebellar ataxia-hearing loss syndrome
- Myoclonus-dystonia syndrome
- Myoclonus-nephropathy syndrome
- Myofibrillar myopathy
- Myofibrillar myopathy with early respiratory failure
- Myofibrillar myopathy-titinopathy
- 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 due to succinate dehydrogenase and aconitase deficiency
- Myopathy with exercise intolerance, Swedish type
- Myopathy with hexagonally cross-linked tubular arrays
- Myopathy with rimmed ubiquitin-positive autophagic vacuolation
- Myopathy, lactic acidosis and sideroblastic anemia
- Myopathy-Moebius-Robin syndrome
- Myopericytoma
- Myophosphorylase deficiency
- Myosclerosis
- Myosin storage myopathy
- Myositis ossificans progressiva
- Myositis purulenta tropica
- Myositis tropicans
- Myospherulosis
- Myotilinopathy
- Myotonia congenita
- Myotonia fluctuans
- Myotonia permanens
- Myotonia-intellectual disability-skeletal anomalies syndrome
- Myotonia-painful contractions syndrome
- Myotonic chondrodystrophy
- Myotonic dystrophy
- Myotonic dystrophy type 1
- Myotonic dystrophy type 2
- Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- Myotonic syndrome
- MYRF-related cardiac urogenital syndrome
- MYSM1 deficiency
- MYT1L-associated neurodevelopmental disorder
- MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Myxofibrosarcoma
- Myxoid malignant fibrous histiocytoma
- Myxoid/round cell liposarcoma
- Myxoma with fibrous dysplasia
- Myxoma-spotty pigmentation-endocrine overactivity syndrome
- Myxopapillary ependymoma
- Mégarbané-Loiselet syndrome
- Ménétrier disease
- Möbius syndrome
- 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