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Machado-Joseph disease type 13 recruitingView → Machado-Joseph disease type 22 recruitingView → Machado-Joseph disease type 33 recruitingView → Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndromeView → Macrocephaly-developmental delay syndromeView → Macrocephaly-intellectual disability-autism syndromeView → Macrocephaly-intellectual disability-left ventricular non compaction syndromeView → Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1 recruitingView → Macrocephaly-short stature-paraplegia syndromeView → Macrocephaly-spastic paraplegia-dysmorphism syndromeView → Macrocystic lymphatic malformation3 recruitingView → Macrodactyly of fingersView → Macrodactyly of fingers, bilateralView → Macrodactyly of fingers, unilateralView → Macrodactyly of toesView → Macrodactyly of toes, bilateralView → Macrodactyly of toes, unilateralView → MacroglossiaGroupView → Macrophage activation syndrome4 recruitingView → Macrophage or histiocytic tumorGroupView → Macrophagic myofasciitisView → Macrosomia-microphthalmia-cleft palate syndromeOphthalmologicalView → Macrostomia-preauricular tags-external ophthalmoplegia syndromeOphthalmologicalView → Macrothrombocytopenia with mitral valve insufficiencyBloodView → Macular amyloidosis1 recruitingOphthalmologicalView → Macular coloboma-cleft palate-hallux valgus syndromeOphthalmologicalView → Macular corneal dystrophy10 recruitingOphthalmologicalView → Maculopapular cutaneous mastocytosis1 recruitingView → MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndromeView → Madras motor neuron diseaseNeuromuscularView → Maffucci syndrome2 recruitingView → MAGIC syndrome2 recruitingView → Majeed syndromeView → Mal de débarquement1 recruitingView → Mal de MeledaView → MalakoplakiaView → Malan overgrowth syndrome1 recruitingView → Malaria58 recruitingView → Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndromeView → Male infertility due to acephalic spermatozoaView → Male infertility due to globozoospermiaView → Male infertility due to gonadal dysgenesisGroupView → Male infertility due to gonadal dysgenesis or sperm disorderGroupView → Male infertility due to large-headed multiflagellar polyploid spermatozoaView → Male infertility due to NANOS1 mutationView → Male infertility due to obstructive azoospermiaGroupView → Male infertility due to obstructive azoospermia of genetic originGroupView → Male infertility due to sperm disorderGroupView → Male infertility due to sperm motility disorderGroupView → Male infertility with azoospermia or oligozoospermia due to single gene mutationView → Male infertility with normal virilization due to meiosis defectView → Male infertility with spermatogenesis disorderGroupView → Male infertility with spermatogenesis disorder due to single gene mutationGroupView → Male infertility with teratozoospermia due to single gene mutationView → Malformation of the anal canal and the rectumGroupView → Malformation of the cerebellar hemispheresNeurologicalGroupView → Malformation of the cerebellar vermisNeurologicalGroupView → Malformation of the neurenteric canal, spinal cord and columnGroupView → Malformation syndrome with hamartosisGroupView → Malformation syndrome with odontal and/or periodontal componentGroupView → Malformation syndrome with short statureGroupView → Malformative syndrome with dentinogenesis imperfectaGroupView → Malignant atrophic papulosis1 recruitingView → Malignant epithelial tumor of ovaryGroupView → Malignant epithelial tumor of salivary glands25 recruitingView → Malignant germ cell tumor of ovaryGroupView → Malignant germ cell tumor of the cervix uteri1 recruitingView → Malignant germ cell tumor of the corpus uteri2 recruitingView → Malignant germ cell tumor of the vagina1 recruitingView → Malignant granulosa cell tumor of the ovaryView → Malignant hyperthermia of anesthesia1 recruitingView → Malignant lymphoma with peripheral neuropathyBloodGroupView → Malignant melanoma of the mucosa10 recruitingView → Malignant mixed Müllerian tumor of the ovaryView → Malignant non-dysgerminomatous germ cell tumor of ovaryView → Malignant non-epithelial tumor of ovaryGroupView → Malignant peripheral nerve sheath tumor22 recruitingView → Malignant peripheral nerve sheath tumor with perineurial differentiationView → Malignant peritoneal mesothelioma13 recruitingOncologyView → Malignant Pleural Mesothelioma50 recruitingOncologyView → Malignant Sertoli-Leydig cell tumor of the ovaryView → Malignant sex cord stromal tumor of ovaryGroupView → Malignant teratoma of ovary1 recruitingView → Malignant triton tumorView → Malignant tumor of fallopian tubes25 recruitingView → Malignant tumor of penisGroupView → Malonic aciduriaMetabolicView → Malposition of a coronary ostiumView → Malpuech syndromeView → MALT lymphoma88 recruitingBloodView → Mammary-digital-nail syndromeView → MAN1B1-CDG1 recruitingView → MAN2B2-CDG1 recruitingView → Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndromeView → Mandibuloacral dysplasiaView → Mandibuloacral dysplasia associated to MTX2View → Mandibuloacral dysplasia with type A lipodystrophyView → Mandibuloacral dysplasia with type B lipodystrophyView → Mandibulofacial dysostosis with alopeciaConnective TissueView → Mandibulofacial dysostosis-macroblepharon-macrostomia syndromeConnective TissueView → Mandibulofacial dysostosis-microcephaly syndromeConnective TissueView → Manganese poisoningView → Mansonelliasis2 recruitingView → Mantle cell lymphoma117 recruitingBloodView → Maple Syrup Urine Disease2 recruitingMetabolicView → Marbach-Schaaf neurodevelopmental syndromeView → Marburg acute multiple sclerosisView → Marburg hemorrhagic fever1 recruitingView → Marchiafava-Bignami diseaseView → Marcus-Gunn syndrome1 recruitingView → Marden-Walker syndromeView → Marfan Syndrome10 recruitingConnective TissueView → Marfan syndrome and Marfan-related disordersConnective TissueGroupView → Marfan syndrome type 19 recruitingConnective TissueView → Marfan syndrome type 21 recruitingConnective TissueView → Marfanoid habitus-autosomal recessive intellectual disability syndromeConnective TissueView → Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndromeConnective TissueView → Marfanoid habitus-inguinal hernia-advanced bone age syndromeConnective TissueView → Marfanoid syndrome, De Silva typeConnective TissueView → Margarita island ectodermal dysplasiaDermatologicalView → Marie Unna hereditary hypotrichosisView → Marin-Amat syndromeView → Marinesco-Sjögren syndromeView → Maroteaux-Lamy Syndrome3 recruitingMetabolicView → Marshall syndrome2 recruitingView → Marshall-Smith syndromeView → Martínez-Frías syndromeView → Martinique crinkled retinal pigment epitheliopathyOphthalmologicalView → MASA syndrome4 recruitingView → MASS syndrome22 recruitingView → Mast cell leukemia6 recruitingBloodView → Mast cell sarcomaOncologyView → Maternal disease-related embryofetopathyGroupView → Maternal hyperthermia-induced birth defectsView → Maternal phenylketonuria syndromeMetabolicView → Maternal riboflavin deficiencyView → Maternal uniparental disomy of chromosome 1 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 13 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 16 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 2 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 20 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 21 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 22 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 4 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 6 syndrome1 recruitingView → Maternal uniparental disomy of chromosome 9 syndromeView → Maternal uniparental disomy of chromosome X syndrome1 recruitingView → Maternal uniparental disomy syndromeGroupView → Matthew-Wood syndrome4 recruitingView → Maxillonasal dysplasiaView → May-Hegglin thrombocytopeniaBloodView → May-Thurner syndrome3 recruitingView → Mayer-Rokitansky-Küster-Hauser syndrome2 recruitingView → Mayer-Rokitansky-Küster-Hauser syndrome type 1View → Mayer-Rokitansky-Küster-Hauser syndrome type 2View → Mazabraud syndrome2 recruitingView → MBD4-related tumor predisposition syndromeView → MCAD Deficiency3 recruitingMetabolicView → McArdle DiseaseNeuromuscularView → McCune-Albright Syndrome4 recruitingConnective TissueView → McDonough syndromeView → McKusick-Kaufman syndromeView → McLeod neuroacanthocytosis syndromeView → Meacham syndromeView → Meckel syndrome2 recruitingView → Meconium aspiration syndrome1 recruitingView → MECP2-related severe neonatal encephalopathyNeurologicalView → Medial condensing osteitis of the clavicleView → Median cleft lip/mandibleView → Median cleft of the upper lip and maxillaView → Median nodule of the upper lipView → Mediastinal arteriovenous malformationView → Medich giant platelet syndromeView → Mediterranean macrothrombocytopeniaBloodView → MEDNIK syndromeView → Medullar diseaseGroupView → Medullary Cystic Kidney Disease5 recruitingRenalView → Medullary sponge kidney2 recruitingRenalView → Medullary thyroid carcinoma16 recruitingEndocrineView → Medulloblastoma39 recruitingOncologyView → Medulloblastoma with extensive nodularityOncologyView → Medulloepithelioma of the central nervous system2 recruitingView → Meesmann corneal dystrophyOphthalmologicalView → Mega-cisterna magnaView → Megaconial congenital muscular dystrophyNeuromuscularView → Megacystis-megaureter syndromeView → Megacystis-microcolon-intestinal hypoperistalsis syndromeView → Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)BloodView → Megalencephalic leukoencephalopathy with subcortical cysts1 recruitingNeurologicalView → Megalencephaly-capillary malformation-polymicrogyria syndrome2 recruitingNeurologicalView → Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeNeurologicalView → Megalencephaly-severe kyphoscoliosis-overgrowth syndromeView → Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiencyBloodView → Megalocornea-intellectual disability syndromeView → MEGDEL syndromeView → MEHMO syndrome1 recruitingView → Meige disease3 recruitingView → Meigs syndromeView → Melanocytoma of the optic disc and optic nerveView → Melanoma and neural system tumor syndromeView → Melanoma of soft tissue39 recruitingView → MELAS Syndrome5 recruitingMitochondrialView → Melhem-Fahl syndromeView → Melioidosis1 recruitingView → Melkersson-Rosenthal syndromeView → Melnick-Needles syndromeView → Melorheostosis1 recruitingView → Melorheostosis with osteopoikilosisView → MEND syndromeView → Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiencyView → Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyView → Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiencyView → Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiencyView → Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiencyView → Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiencyView → Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiencyView → Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiencyView → Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiencyView → Ménétrier diseaseView → Meningeal melanocytomaView → Meningioma63 recruitingOncologyView → Meningocele2 recruitingView → Meningococcal meningitis6 recruitingView → Menke-Hennekam syndromeView → Menkes disease1 recruitingView → Menstrual cycle-dependent periodic feverView → MEPAN syndromeView → Mercury poisoningView → Merkel Cell Carcinoma36 recruitingOncologyView → MERRF Syndrome2 recruitingMitochondrialView → Mesenchymal tumor of small intestineGroupView → Mesial temporal lobe epilepsy with hippocampal sclerosis1 recruitingNeurologicalView → Mesoaxial synostotic syndactyly with phalangeal reductionView → MesocardiaView → Mesomelia-synostoses syndromeView → Mesomelic dwarfism-cleft palate-camptodactyly syndromeView → Mesomelic dwarfism, Reinhardt-Pfeiffer typeView → Mesomelic dysplasia-digital anomalies-intellectual disability syndromeView → Mesomelic dysplasia, Kantaputra typeView → Mesomelic dysplasia, Nievergelt typeView → Mesomelic dysplasia, Savarirayan typeView → Mesothelioma of the tunica vaginalisOncologyView → Metabolic disease due to other fatty acid oxidation disorderGroupView → Metabolic disease involving other neurotransmitter deficiencyGroupView → Metabolic disease with cataractGroupView → Metabolic disease with dementiaGroupView → Metabolic disease with intestinal involvementGroupView → Metabolic disease with skin involvementGroupView → Metabolic diseases with epilepsyNeurologicalGroupView → Metabolic myopathyNeuromuscularGroupView → Metabolic myopathy due to lactate transporter defectNeuromuscularView → Metabolic neurotransmission anomaly with epilepsyNeurologicalGroupView → MetachondromatosisView → Metachromatic Leukodystrophy7 recruitingMetabolicView → Metachromatic leukodystrophy, adult formNeurologicalView → Metachromatic leukodystrophy, juvenile formNeurologicalView → Metachromatic leukodystrophy, late infantile formNeurologicalView → Metal transport or utilization disorder with epilepsyNeurologicalGroupView → Metaphyseal acroscyphodysplasiaView → Metaphyseal anadysplasiaView → Metaphyseal chondrodysplasia, Jansen type2 recruitingView → Metaphyseal chondrodysplasia, Kaitila typeView → Metaphyseal chondrodysplasia, Rosenberg typeView → Metaphyseal chondrodysplasia, Schmid typeView → Metaphyseal chondrodysplasia, Spahr typeView → Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaMetabolicView → Metaphyseal dysostosis-intellectual disability-conductive deafness syndromeConnective TissueView → Metaphyseal dysplasia without hypotrichosisView → Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromeView → Metaphyseal dysplasia, Braun-Tinschert typeView → Metaplastic carcinoma of the breast3 recruitingBloodView → Metatropic dysplasiaView → Methanol poisoning1 recruitingView → Methemoglobinemia-related cyanosisGroupView → Methimazole embryofetopathyView → Methionine adenosyltransferase I/III deficiencyView → Methotrexate toxicityView → Methotrexate-associated lymphoproliferative disordersView → Methylcobalamin deficiency type cblDv1View → Methylcobalamin deficiency type cblEView → Methylcobalamin deficiency type cblGView → Methylmalonic Acidemia6 recruitingMetabolicView → Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiencyMetabolicView → Methylmalonic acidemia with homocystinuria type cblFRenalView → Methylmalonic acidemia with homocystinuria, type cblCRenalView → Methylmalonic acidemia with homocystinuria, type cblDRenalView → Methylmalonic acidemia with homocystinuria, type cblJRenalView → Methylmalonic acidemia with homocystinuria, type cblXRenalView → Mevalonate kinase deficiency1 recruitingView → Mevalonic aciduria1 recruitingMetabolicView → MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectNeurologicalView → MGAT2-CDGView → MGP-related spondyloepiphyseal dysplasiaConnective TissueView → Michels syndromeView → Micro syndrome16 recruitingView → Microbrachycephaly-ptosis-cleft lip syndromeView → Microcephalic cortical malformations-short stature due to RTTN deficiencyView → Microcephalic osteodysplastic dysplasia, Saul-Wilson type1 recruitingView → Microcephalic osteodysplastic primordial dwarfism type II1 recruitingView → Microcephalic osteodysplastic primordial dwarfism types I and III1 recruitingView → Microcephalic primordial dwarfism due to ZNF335 deficiencyView → Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiencyImmuneView → Microcephalic primordial dwarfism-insulin resistance syndromeView → Microcephalic primordial dwarfism, Dauber typeView → Microcephalic primordial dwarfism, Montreal typeView → Microcephalic primordial dwarfism, Toriello typeView → Microcephaly-albinism-digital anomalies syndromeView → Microcephaly-brachydactyly-kyphoscoliosis syndromeView → Microcephaly-brain defect-spasticity-hypernatremia syndromeView → Microcephaly-capillary malformation syndromeView → Microcephaly-cardiac defect-lung malsegmentation syndromeView → Microcephaly-cardiomyopathy syndromeNeuromuscularView → Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndromeNeurologicalView → Microcephaly-cervical spine fusion anomalies syndromeView → Microcephaly-cleft palate-abnormal retinal pigmentation syndromeOphthalmologicalView → Microcephaly-complex motor and sensory axonal neuropathy syndromeView → Microcephaly-congenital cataract-psoriasiform dermatitis syndromeView → Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromNeurologicalView → Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeView → Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndromeView → Microcephaly-cutis verticis gyrata-lymphedema syndromeView → Microcephaly-deafness-intellectual disability syndromeView → Microcephaly-digital anomalies-intellectual disability syndromeView → Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeView → Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic typeView → Microcephaly-glomerulonephritis-marfanoid habitus syndromeConnective TissueView → Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndromeView → Microcephaly-intellectual disability-phalangeal and neurological anomalies syndromeView → Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeNeurologicalView → Microcephaly-lymphedema-chorioretinopathy syndromeView → Microcephaly-microcornea syndrome, Seemanova typeView → Microcephaly-micromelia syndromeView → Microcephaly-polymicrogyria-corpus callosum agenesis syndromeNeurologicalView → Microcephaly-seizures-intellectual disability-heart disease syndromeNeurologicalView → Microcephaly-short stature-intellectual disability-facial dysmorphism syndromeView → Microcephaly-short stature-limb abnormalities syndromeView → Microcephaly-thin corpus callosum-intellectual disability syndromeView → Microcornea-glaucoma-absent frontal sinuses syndromeView → Microcornea-myopic chorioretinal atrophy-telecanthus syndromeOphthalmologicalView → Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndromeView → Microcystic lymphatic malformation1 recruitingView → Microcystic stromal tumorView → Microcytic anemia with liver iron overloadBloodView → Microduplication Xp11.22p11.23 syndromeView → Microform holoprosencephalyView → Microgastria-limb reduction defect syndromeView → Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeView → MicrolissencephalyNeurologicalView → Microlissencephaly-micromelia syndromeNeurologicalView → Microphthalmia with brain and digit anomaliesOphthalmologicalView → Microphthalmia with limb anomaliesOphthalmologicalView → Microphthalmia with linear skin defects syndromeOphthalmologicalView → Microphthalmia-ankyloblepharon-intellectual disability syndromeOphthalmologicalView → Microphthalmia-anophthalmia-colobomaOphthalmologicalGroupView → Microphthalmia-brain atrophy syndromeOphthalmologicalView → Microphthalmia-microtia-fetal akinesia syndromeOphthalmologicalView → Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndromeOphthalmologicalView → Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndromeOphthalmologicalView → Microphthalmia, Lenz typeOphthalmologicalView → Microscopic polyangiitis11 recruitingView → Microspherophakia-metaphyseal dysplasia syndromeView → Microsporidiosis1 recruitingView → Microtia3 recruitingView → Microtia-eye coloboma-imperforation of the nasolacrimal duct syndromeView → Microtriplication 11q24.1 syndromeView → Microvenular haemangiomaView → Microvillus inclusion diseaseView → Micturition-induced epilepsy1 recruitingNeurologicalView → Mid-dermal elastolysisView → Middle and/or inner ear anomalyGroupView → Middle aortic syndrome20 recruitingCardiovascularView → Middle ear neuroendocrine tumorEndocrineView → Middle East respiratory syndromeView → Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndromeRenalView → Midline cerebral malformationGroupView → Midline cervical cleftView → Midline interhemispheric variant of holoprosencephalyView → Mietens syndromeView → Mikati-Najjar-Sahli syndromeView → Mild Canavan diseaseView → Mild hemophilia A1 recruitingBloodView → Mild hemophilia BBloodView → Mild hyperphenylalaninemiaView → Mild phenylketonuriaMetabolicView → Mild phosphoribosylpyrophosphate synthetase superactivityView → Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritisConnective TissueView → Miller Fisher syndromeView → Miller-Dieker syndromeView → Mills syndrome1 recruitingView → Milroy disease1 recruitingView → Minimal pigment oculocutaneous albinism type 1View → MIR140-related spondyloepiphyseal dysplasiaConnective TissueView → MIRAGE syndrome2 recruitingView → Mirhosseini-Holmes-Walton syndromeView → Mirizzi syndromeView → Mirror polydactyly-vertebral segmentation-limbs defects syndromeView → Mirror-image polydactylyView → Miscellaneous movement disorder due to genetic neurodegenerative diseaseNeurologicalGroupView → Miscellaneous movement disorder due to neurodegenerative diseaseNeurologicalGroupView → MiT family translocation renal cell carcinoma4 recruitingRenalView → Mitchell SyndromeView → MITF-related melanoma and renal cell carcinoma predisposition syndromeRenalView → Mitochondrial Complex I Deficiency2 recruitingMitochondrialView → Mitochondrial Complex IV Deficiency2 recruitingMitochondrialView → Mitochondrial diseaseMitochondrialGroupView → Mitochondrial disease with dilated cardiomyopathyNeuromuscularGroupView → Mitochondrial disease with epilepsyNeurologicalGroupView → Mitochondrial disease with hypertrophic cardiomyopathyNeuromuscularGroupView → Mitochondrial disease with peripheral neuropathyMitochondrialGroupView → Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexesMitochondrialGroupView → Mitochondrial disorder due to a defect in mitochondrial protein synthesisMitochondrialGroupView → Mitochondrial DNA depletion syndromeMitochondrialGroupView → Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaMitochondrialView → Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathyMitochondrialView → Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomaliesMitochondrialView → Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiencyMitochondrialView → Mitochondrial DNA depletion syndrome, hepatocerebrorenal formMitochondrialView → Mitochondrial DNA depletion syndrome, myopathic formMitochondrialView → Mitochondrial DNA maintenance syndromeMitochondrialGroupView → Mitochondrial DNA-associated Leigh syndrome2 recruitingMitochondrialView → Mitochondrial DNA-related cardiomyopathy and hearing loss1 recruitingNeuromuscularView → Mitochondrial DNA-related dystoniaMitochondrialView → Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiencyNeuromuscularView → Mitochondrial membrane protein-associated neurodegeneration1 recruitingNeurologicalView → Mitochondrial membrane transport disorderMitochondrialGroupView → Mitochondrial myopathyNeuromuscularGroupView → Mitochondrial myopathy and sideroblastic anemiaNeuromuscularView → Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyNeuromuscularView → Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome3 recruitingNeurologicalView → Mitochondrial myopathy-lactic acidosis-deafness syndrome2 recruitingNeuromuscularView → Mitochondrial neurogastrointestinal encephalomyopathy2 recruitingNeuromuscularView → Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureMitochondrialView → Mitochondrial oxidative phosphorylation disorderMitochondrialGroupView → Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNAMitochondrialGroupView → Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNAMitochondrialGroupView → Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomaliesMitochondrialGroupView → Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomaliesMitochondrialGroupView → Mitochondrial oxidative phosphorylation disorder with no known mechanismMitochondrialGroupView → Mitochondrial protein import disorderMitochondrialGroupView → Mitochondrial pyruvate carrier deficiencyMitochondrialView → Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyMitochondrialView → Mitochondrial substrate carrier disorderMitochondrialGroupView → Mitochondrial trifunctional protein deficiency1 recruitingMitochondrialView → Mitral atresia1 recruitingView → Mitral valve agenesisView → Mixed autoinflammatory and autoimmune syndromeImmuneGroupView → Mixed connective tissue disease57 recruitingConnective TissueView → Mixed cryoglobulinemia type IIView → Mixed cryoglobulinemia type IIIView → Mixed cystic lymphatic malformation2 recruitingView → Mixed dermis disorderGroupView → Mixed functioning pituitary adenomaEndocrineGroupView → Mixed germ cell tumor36 recruitingView → Mixed germ cell tumor of central nervous system13 recruitingView → Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas2 recruitingEndocrineView → Mixed phenotype acute leukemia43 recruitingBloodView → Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)1 recruitingBloodView → Mixed phenotype acute leukemia with t(v;11q23.3)BloodView → Mixed sclerosing bone dystrophy with extra-skeletal manifestationsView → Mixed-type autoimmune hemolytic anemia3 recruitingBloodView → Miyoshi myopathyNeuromuscularView → MME-related autosomal dominant Charcot Marie Tooth disease type 2View → MMEP syndromeView → Moderate hemophilia A8 recruitingBloodView → Moderate hemophilia B5 recruitingBloodView → Moderately-differentiated thymic neuroendocrine carcinomaEndocrineView → MODY824 recruitingView → Moebius syndrome1 recruitingView → Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndromeView → MOGS-CDGView → Mohr-Tranebjaerg syndromeView → MOMO syndromeView → MonilethrixView → Monoamine oxidase A deficiencyView → Monoclonal mast cell activation syndromeView → Monogenic disease with epilepsyNeurologicalGroupView → Monomelic amyotrophy1 recruitingView → Monomorphic epitheliotropic intestinal T-cell lymphoma3 recruitingBloodView → Mononen-Karnes-Senac syndromeView → Monosomy 13q14 syndromeView → Monosomy 13q34 syndromeView → Monosomy 18p syndromeView → Monosomy 18q syndromeView → Monosomy 22 syndromeView → Monosomy 9p syndromeView → Monosomy 9q22.3 syndromeView → Monosomy X syndrome26 recruitingView → Monostotic fibrous dysplasiaView → Moore-Federman syndromeView → Mooren ulcerView → Morgagni-Stewart-Morel syndromeView → MORM syndromeView → Morning glory disc anomalyView → Morquio Syndrome18 recruitingMetabolicView → Morvan syndromeView → Mosaic genome-wide paternal uniparental disomy syndromeView → Mosaic Legius syndromeView → Mosaic monosomy X syndromeView → Mosaic neurofibromatosis type 1View → Mosaic NF2-related schwannomatosisView → Mosaic schwannomatosisView → Mosaic trisomy 1 syndromeView → Mosaic trisomy 10 syndromeView → Mosaic trisomy 12 syndromeView → Mosaic trisomy 14 syndromeView → Mosaic trisomy 15 syndromeView → Mosaic trisomy 16 syndromeView → Mosaic trisomy 17 syndromeView → Mosaic trisomy 2 syndromeView → Mosaic trisomy 20 syndromeView → Mosaic trisomy 22 syndromeView → Mosaic trisomy 3 syndromeView → Mosaic trisomy 4 syndromeView → Mosaic trisomy 5 syndromeView → Mosaic trisomy 7 syndromeView → Mosaic trisomy 8 syndrome1 recruitingView → Mosaic trisomy 9 syndromeView → Mosaic variegated aneuploidy syndromeView → Motor delay-microcephaly-speech impairment-ocular abnormalities syndromeView → Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndromeNeurologicalView → Motor neuron diseaseNeuromuscularGroupView → Motor stereotypiesGroupView → Mounier-Kühn syndromeView → Mowat-Wilson SyndromeNeurologicalView → Mowat-Wilson syndrome due to monosomy 2q22View → Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeView → Moyamoya disease21 recruitingView → Moyamoya disease with early-onset achalasia1 recruitingView → Moynahan syndromeView → MPDU1-CDG1 recruitingView → MPI-CDG1 recruitingView → MRCS syndromeView → MSH3-related polyposisView → MT-ATP6-related mitochondrial spastic paraplegiaMitochondrialView → MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndromeNeurologicalView → Mu-heavy chain diseaseView → MUC1-related autosomal dominant tubulointerstitial kidney disease1 recruitingRenalView → Mucinous adenocarcinoma of ovary3 recruitingOncologyView → Mucinous adenocarcinoma of the appendix12 recruitingOncologyView → Mucinous cystadenocarcinoma of the pancreasOncologyView → Mucinous cystadenoma of childhoodView → Mucinous tubular and spindle cell renal carcinomaRenalView → Muckle-Wells syndrome2 recruitingView → Mucocutaneous venous malformationsView → MucolipidosisGroupView → Mucolipidosis type II1 recruitingView → Mucolipidosis type III1 recruitingView → Mucolipidosis type III alpha/betaView → Mucolipidosis type III gammaView → Mucolipidosis type IV1 recruitingView → MucopolysaccharidosisMetabolicView → Mucopolysaccharidosis type 110 recruitingMetabolicView → Mucopolysaccharidosis type 10MetabolicView → Mucopolysaccharidosis type 2, attenuated formMetabolicView → Mucopolysaccharidosis type 2, severe formMetabolicView → Mucopolysaccharidosis type 42 recruitingMetabolicView → Mucopolysaccharidosis type 4BMetabolicView → Mucopolysaccharidosis type 6, rapidly progressingMetabolicView → Mucopolysaccharidosis type 6, slowly progressingMetabolicView → Mucopolysaccharidosis Type I Scheie1 recruitingMetabolicView → Mucopolysaccharidosis Type VII4 recruitingMetabolicView → Mucopolysaccharidosis with skin involvementMetabolicGroupView → Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersMetabolicView → Mucous membrane pemphigoid3 recruitingView → Mueller-Weiss syndromeView → Muenke syndromeView → Muir-Torre syndrome1 recruitingView → Mulibrey nanismView → Müllerian aplasia and hyperandrogenismView → Müllerian derivatives-lymphangiectasia-polydactyly syndromeView → Müllerian duct anomalies-limb anomalies syndromeView → Multi-Minicore Disease1 recruitingNeuromuscularView → Multicentric carpo-tarsal osteolysis with or without nephropathyRenalView → Multicentric osteolysis-nodulosis-arthropathy spectrumView → Multicentric reticulohistiocytosis1 recruitingImmuneView → Multicystic dysplastic kidney5 recruitingRenalView → Multifocal atrial tachycardiaView → Multifocal infantile hemangioma with extracutenous involvementView → Multifocal lymphangioendotheliomatosis-thrombocytopenia syndromeBloodView → Multifocal motor neuropathy3 recruitingView → Multifocal pattern dystrophy simulating fundus flavimaculatusView → Multifocal sporadic venous malformationView → Multifocal tuberculosisView → Multilocular cystic renal neoplasm of low malignant potentialRenalView → Multiloculated renal cystRenalView → Multiminicore myopathy2 recruitingNeuromuscularView → Multinodular goiter-cystic kidney-polydactyly syndromeRenalView → Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeNeurologicalView → Multiple acyl-CoA dehydrogenase deficiency1 recruitingView → Multiple acyl-CoA dehydrogenase deficiency, mild typeView → Multiple acyl-CoA dehydrogenase deficiency, severe neonatal typeView → Multiple benign circumferential skin creases on limbsView → Multiple congenital anomalies-hypotonia-seizures syndromeNeurologicalView → Multiple congenital anomalies-hypotonia-seizures syndrome type 2NeurologicalView → Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndromeView → Multiple congenital anomalies/dysmorphic syndromeGroupView → Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilityGroupView → Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityGroupView → Multiple Endocrine Neoplasia Type 127 recruitingEndocrineView → Multiple Endocrine Neoplasia Type 219 recruitingEndocrineView → Multiple endocrine neoplasia type 2A4 recruitingEndocrineView → Multiple endocrine neoplasia type 2B1 recruitingEndocrineView → Multiple endocrine neoplasia type 43 recruitingEndocrineView → Multiple epiphyseal dysplasia and pseudoachondroplasiaConnective TissueGroupView → Multiple epiphyseal dysplasia due to collagen 9 anomalyView → Multiple epiphyseal dysplasia type 1View → Multiple epiphyseal dysplasia type 4View → Multiple epiphyseal dysplasia type 5View → Multiple epiphyseal dysplasia type 7View → Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndromeView → Multiple epiphyseal dysplasia-miniepiphyses syndromeView → Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndromeView → Multiple epiphyseal dysplasia, Beighton typeView → Multiple epiphyseal dysplasia, Lowry typeView → Multiple evanescent white dot syndromeView → Multiple mitochondrial DNA deletion syndromeMitochondrialGroupView → Multiple mitochondrial dysfunctions syndrome type 1MitochondrialView → Multiple mitochondrial dysfunctions syndrome type 2MitochondrialView → Multiple mitochondrial dysfunctions syndrome type 3MitochondrialView → Multiple mitochondrial dysfunctions syndrome type 4MitochondrialView → Multiple mitochondrial dysfunctions syndrome type 5MitochondrialView → Multiple mitochondrial dysfunctions syndrome type 6MitochondrialView → Multiple myeloma575 recruitingView → Multiple non-ossifying fibromatosis44 recruitingView → Multiple osteochondromas3 recruitingView → Multiple paragangliomas associated with polycythemiaBloodView → Multiple polyglandular tumorGroupView → Multiple pterygium syndrome, Aslan typeView → Multiple pterygium-malignant hyperthermia syndromeView → Multiple sclerosis variantGroupView → Multiple sclerosis-ichthyosis-factor VIII deficiency syndromeDermatologicalView → Multiple self-healing squamous epitheliomaView → Multiple sulfatase deficiency3 recruitingView → Multiple symmetric lipomatosis5 recruitingView → Multiple synostoses syndrome1 recruitingView → Multiple System Atrophy89 recruitingNeurologicalView → Multiple system atrophy, cerebellar type4 recruitingNeurologicalView → Multiple system atrophy, parkinsonian type5 recruitingNeurologicalView → Multisystem inflammatory syndrome in children and adultsView → Multisystem Langerhans cell histiocytosis1 recruitingImmuneView → Multisystemic smooth muscle dysfunction syndrome1 recruitingView → Murine typhus6 recruitingView → Muscle filaminopathyView → Muscle-eye-brain disease12 recruitingView → Muscle-eye-brain disease with bilateral multicystic leucodystrophyView → Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome2 recruitingNeurologicalView → Muscular channelopathyGroupView → Muscular dystrophyNeuromuscularGroupView → Muscular dystrophy-white matter spongiosis syndromeNeuromuscularView → Muscular hypertrophy-hepatomegaly-polyhydramnios syndromeView → Muscular lipidosisGroupView → Muscular pseudohypertrophy-hypothyroidism syndromeEndocrineView → Muscular tumorGroupView → Musculocontractural Ehlers-Danlos syndromeConnective TissueView → Musculoskeletal disease with cataractGroupView → Mutilating hereditary sensory neuropathy with spastic paraplegiaView → Mutilating palmoplantar keratoderma with periorificial keratotic plaques1 recruitingDermatologicalView → MUTYH-related polyposisView → Myalgia-eosinophilia syndrome associated with tryptophanView → Myasthenia Gravis95 recruitingNeuromuscularView → MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndromeView → MycetomaView → Mycophenolate mofetil embryopathyView → Mycoplasma encephalitis1 recruitingView → Myelic limited dorsal malformationView → Myelodysplastic neoplasm with increased blasts2 recruitingView → Myelodysplastic neoplasm with increased blasts type 11 recruitingView → Myelodysplastic neoplasm with increased blasts type 21 recruitingView → Myelodysplastic neoplasm with low blasts5 recruitingView → Myelodysplastic Syndrome with del(5q)2 recruitingBloodView → Myeloid hemopathyGroupView → Myeloid sarcoma12 recruitingOncologyView → Myeloid/lymphoid neoplasm associated with FGFR1 rearrangementView → Myeloid/lymphoid neoplasm associated with JAK2 rearrangementView → Myeloid/lymphoid neoplasm associated with PDGFRA rearrangementView → Myeloid/lymphoid neoplasm associated with PDGFRB rearrangementView → Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2GroupView → Myeloperoxidase deficiencyView → Myeloschisis2 recruitingView → MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeNeuromuscularView → MYH9-related syndromic thrombocytopeniaBloodView → Myhre syndrome1 recruitingView → MyiasisGroupView → MYO5B-related progressive familial intrahepatic cholestasisView → Myoclonic dystonia 15View → Myoclonic epilepsy in non-progressive encephalopathiesNeurologicalView → Myoclonic epilepsy of infancy2 recruitingNeurologicalView → Myoclonus-cerebellar ataxia-deafness syndrome1 recruitingNeurologicalView → Myoclonus-dystonia syndrome3 recruitingView → Myofibrillar myopathyNeuromuscularGroupView → Myopathic Ehlers-Danlos syndromeConnective TissueView → Myopathic intestinal pseudoobstructionView → Myopathy and diabetes mellitus7 recruitingNeuromuscularView → Myopathy with hexagonally cross-linked tubular arraysNeuromuscularView → MyopericytomaView → MyosclerosisView → Myosin storage myopathyNeuromuscularView → MyospherulosisView → MyotilinopathyGroupView → Myotonia Congenita14 recruitingNeuromuscularView → Myotonia fluctuansNeuromuscularView → Myotonia permanensNeuromuscularView → Myotonic Dystrophy42 recruitingNeuromuscularView → Myotonic dystrophy type 33 recruitingView → Myotonic syndromeGroupView → MYT1L-related developmental delay-intellectual disability-obesity syndromeView → Myxofibrosarcoma6 recruitingOncologyView → Myxoid/round cell liposarcoma8 recruitingOncologyView → Myxopapillary ependymomaView → OBSOLETE: Macrocephaly-immune deficiency-anemia syndromeBloodRetired termView → OBSOLETE: Maculopapular lupus rashRetired termView → OBSOLETE: Madelung deformityRetired termView → OBSOLETE: Madelung deformity, bilateralRetired termView → OBSOLETE: Madelung deformity, unilateralRetired termView → OBSOLETE: Major induction processes eye anomalyRetired termView → OBSOLETE: Male infertility with impaired virilizationRetired termView → OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemiaEndocrineRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorderRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illnessRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic diseaseRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic diseaseRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic diseaseRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorderRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failureRenalRetired termView → OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosisRetired termView → OBSOLETE: Male infertility with impaired virilization due to a viral orchitisRetired termView → OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defectRetired termView → OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous diseaseRetired termView → OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxinRetired termView → OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunityRetired termView → OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with traumaRetired termView → OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-relatedRetired termView → OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorderEndocrineRetired termView → OBSOLETE: Male infertility with normal virilizationRetired termView → OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defectRetired termView → OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidismRetired termView → OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicoceleRetired termView → OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defectEndocrineRetired termView → OBSOLETE: Male infertility with normal virilization due to a systemic diseaseRetired termView → OBSOLETE: Male infertility with normal virilization due to a testicular defectRetired termView → OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunityRetired termView → OBSOLETE: Male infertility with normal virilization due to an acquired testicular defectRetired termView → OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drugRetired termView → OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxinRetired termView → OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infectionRetired termView → OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiationRetired termView → OBSOLETE: Male infertility with normal virilization due to androgen administrationRetired termView → OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injuryRetired termView → OBSOLETE: Malignant tumor of palpebral epidermisRetired termView → OBSOLETE: Mandibular arteriovenous malformationRetired termView → OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndromeConnective TissueRetired termView → OBSOLETE: Mandibulofacial dysostosis-lymphedema syndromeConnective TissueRetired termView → OBSOLETE: Marseilles feverRetired termView → OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathyNeuromuscularRetired termView → OBSOLETE: Maxillary arteriovenous malformationRetired termView → OBSOLETE: McLain-Dekaban syndromeRetired termView → OBSOLETE: MECP2 duplication syndromeRetired termView → OBSOLETE: Mediterranean spotted feverRetired termView → OBSOLETE: Melanoma-pancreatic cancer syndromeRetired termView → OBSOLETE: Mesenchymatous palpebral tumorRetired termView → OBSOLETE: Metabolic disease associated with ocular featuresRetired termView → OBSOLETE: Metabolic disease with cataractRetired termView → OBSOLETE: Metabolic disease with corneal opacityOphthalmologicalRetired termView → OBSOLETE: Metabolic disease with macular cherry-red spotOphthalmologicalRetired termView → OBSOLETE: Metabolic disease with pigmentary retinitisOphthalmologicalRetired termView → OBSOLETE: Metastatic pituitary hormone deficiencyEndocrineRetired termView → OBSOLETE: Metastatic spermatocytic seminomaRetired termView → OBSOLETE: Metatropic dysplasiasRetired termView → OBSOLETE: Mickleson syndromeRetired termView → OBSOLETE: Microcephaly-seizures-developmental delay syndromeNeurologicalRetired termView → OBSOLETE: Microcornea-corectopia-macular hypoplasia syndromeOphthalmologicalRetired termView → OBSOLETE: Microlissencephaly type BNeurologicalRetired termView → OBSOLETE: Micromelic dwarfism, Fryns typeRetired termView → OBSOLETE: Microphthalmia-cataract syndromeOphthalmologicalRetired termView → OBSOLETE: Microscopic colitisRetired termView → OBSOLETE: Miscellaneous metabolic disease associated with bone anomalyRetired termView → OBSOLETE: Mitochondrial disease with eye involvementMitochondrialRetired termView → OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNAMitochondrialRetired termView → OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNAMitochondrialRetired termView → OBSOLETE: Mixed dystoniaRetired termView → OBSOLETE: Moderate spondylodysplastic dysplasiaRetired termView → OBSOLETE: Multicentric Castleman diseaseRetired termView → OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndromeRetired termView → OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeRetired termView → OBSOLETE: Multiple epiphyseal dysplasia, unclassified typeRetired termView → OBSOLETE: Multiple fibroadenoma of the breastRetired termView → OBSOLETE: Multiple ventricular septal defectsRetired termView → OBSOLETE: Myasthenic syndrome with eye involvementRetired termView → OBSOLETE: Mycobacterium xenopi infectionRetired termView → OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophyNeuromuscularRetired termView → OBSOLETE: Myopathy with eye involvementNeuromuscularRetired termView → OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndromeNeuromuscularRetired termView → OBSOLETE: Myostatin-related muscle hypertrophyRetired termView →