M

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
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Macrothrombocytopenia with mitral valve insufficiency
MAC spectrum
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 deformity
Madelung deformity, bilateral
Madelung deformity, unilateral
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
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
Mammary polyadenomatosis
MAN1B1-CDG
Man5GlcNAc2-PP-Dol flippase deficiency
Mandibular arteriovenous malformation
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Mandibular hypoplasia-hearing loss-progeroid syndrome
Mandibulfacial dysostosis with postaxial limb anomalies
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 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
Marfan and Marfan-related disorders
Marfanoid craniosynostosis syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Marfanoid syndrome, De Silva type
Marfan syndrome
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-hearing loss syndrome
Mast syndrome
MAT
MAT deficiency
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 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
MBD
MBEN
MC
MC4R deficiency
MCADD
MCAD deficiency
MCAHS type 2
MCAHS type 3
MCA/MR
MCAP
McArdle disease
MCA/variable MR
MCA without intellectual disability
MCC
McCabe disease
MCCD
MCC deficiency
McCune-Albright syndrome
MCD
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
MCOPS9
MCPH
McPherson-Clemens syndrome
McPherson-Hall syndrome
MCRCC
MCRPE
MCT8 deficiency
MCTD
MC type II
MC type III
MCUL
MD
MD1
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
MED
MED1
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 type 1
Medullary plasmacytoma
Medullary sponge kidney
Medullary thyroid carcinoma
Medulloblastoma
Medulloblastoma with extensive nodularity
Medulloepithelioma of the central nervous system
Meesmann corneal dystrophy
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-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
Menkes disease
Menkes syndrome
Menstrual cycle-dependent febrile episode
Menstrual cycle-dependent periodic fever
Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome
MEPAN syndrome
Mercurialism
Mercury intoxication
Mercury poisoning
Merkel cell carcinoma
Merosin-negative congenital muscular dystrophy
MERRF
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, 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 dysplasia, Braun-Tinschert type
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal dysplasia, Pyle type
Metaplastic carcinoma of the breast
Metatropic dwarfism
Metatropic dysplasia
Methacrylic aciduria
Methanethiol oxidase deficiency
Methanol poisoning
Methimazole/carbimazole embryofetopathy
Methimazole/carbimazole embryopathy
Methimazole embryofetopathy
Methionine adenosyltransferase deficiency
Methotrexate-associated lymphoproliferative disorders
Methotrexate dose selection
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-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 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 RTTN deficiency
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-hiatus hernia-nephrotic syndrome
Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
Microcephaly-immunodeficiency-lymphoreticuloma 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-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-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
Microcytic anemia with liver iron overload
Microdeletion 22q11.2
Microdeletion 9q22.3
Microdontia-type I microtia-deafness 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 spectrum
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 aortic syndrome
Middle ear anomaly
Middle ear neuroendocrine tumor
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 factor IX deficiency
Mild factor VIII deficiency
Mild hemophilia A
Mild hemophilia B
Mild HPA
Mild hyperphenylalaninemia
Mild nemaline myopathy
Mild osteogenesis imperfecta
Mild peroxismal disorder due to PEX10 deficiency
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’s atrophie blanche
Miller-Dieker syndrome
Miller Fisher syndrome
Miller syndrome
Mills syndrome
Milroy disease
MILS
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 infection
MIRAGE syndrome
MIRAS
Mirizzi syndrome
Mirror hands and feets-nasal defects syndrome
Mirror-image polydactyly
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Miscellaneous movement disorder due to genetic neurodegenerative disease
Miscellaneous movement disorder due to neurodegenerative disease
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 enoyl CoA reductase protein-associated neurodegeneration syndrome
Mitochondrial HSP60 chaperonopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
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 deafness with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural deafness
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial oxidative phosphorylation disorder
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA
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
Mitral atresia
Mitral regurgitation-deafness-skeletal anomalies syndrome
Mitral valve agenesis
Mitten hand
Mixed AIHA
Mixed autoinflammatory and autoimmune syndrome
Mixed connective tissue disease
Mixed cryoglobulinemia
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-nonneuroendocrine neoplasm of pancreas
Mixed neuronal-glial tumor
Mixed oligoastrocytoma
Mixed oligodendroglial and astrocytic tumor
Mixed phenotype acute leukemia
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
MK
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
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
MNGIE
MNK
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
Moderately-differentiated thymic neuroendocrine carcinoma
Moderately severe factor IX deficiency
Moderately severe factor VIII deficiency
Moderately severe hemophilia A
Moderately severe hemophilia B
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
Monomorphic NK-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 12q15q21.1
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 20qter
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 8q24.1
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’s fibrillary chorea
Morvan syndrome
Mosaic genome-wide paternal uniparental disomy
Mosaic genome-wide paternal UPD
Mosaic monosomy X
Mosaic paternal uniparental disomy of chromosome 11
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
MPAN
MPD
MPD1
MPD3
MPDU1-CDG
MPEI
MPGN
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
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
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 hearing loss
mtDNA-related dystonia
mtDNA-related mitochondrial myopathy
mtDNA-related progressive external ophthalmoplegia
MTHFR deficiency
MTLE-HS
MTO-deficiency
MTT
MTX-associated lymphoproliferative disorders
MTX-LPD
MUC1-related autosomal dominant medullary cystic kidney disease
MUC1-related autosomal dominant tubulointerstitial 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
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 Castleman disease
Multicentric giant lymph node hyperplasia
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
Multifocal ventricular premature beats
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 café-au-lait spots
Multiple café-au-lait syndrome
Multiple carboxylase deficiency
Multiple cartilaginous exostoses
Multiple congenital anomalies/dysmorphic syndrome
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
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-variable intellectual disability with or without dysmorphism syndrome
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 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 fibroadenoma of the breast
Multiple glomus tumors
Multiple hamartoma syndrome
Multiple intestinal atresia
Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism 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 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
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 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 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
Mycobacterium xenopi infection
Mycophenolate mofetil embryopathy
Mycoplasma encephalitis
Mycosis fungoides, Alibert-Bazin type
Mycosis fungoides and variants
Mycosis fungoides-associated follicular mucinosis
Mycotic keratitis
MyD88 deficiency
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 PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
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-astastic 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-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-growth delay-intellectual disability-hypospadias syndrome
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
Myositis ossificans progressiva
Myositis purulenta tropica
Myositis tropicans
Myospherulosis
Myostatin-related muscle hypertrophy
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

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