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Rare conditions starting with M
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493 conditions starting with M
- Macrocephaly-autism syndrome
- Macrocephaly-developmental delay syndrome
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- Macrocephaly-short stature-paraplegia syndrome
- Macrocephaly-spastic paraplegia-dysmorphism syndrome
- Macrodactyly of fingers
- Macrodactyly of toe
- Macroglossia
- Macrophage activation syndrome
- Macrophagic myofasciitis
- Macrosomia-microphthalmia-cleft palate syndrome
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- Macrothrombocytopenia with mitral valve insufficiency
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Macular coloboma-cleft palate-hallux valgus syndrome
- Macular corneal dystrophy
- Madelung deformity
- Madras motor neuron disease
- Maffucci syndrome
- Magic syndrome
- Majeed syndrome
- Mal de Debarquement
- Malakoplakia
- Malan overgrowth syndrome
- Malaria
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Male infertility due to globozoospermia
- Male infertility with teratozoospermia due to single gene mutation
- Male pseudohermaphroditism due to defective lh molecule
- Malignant atrophic papulosis
- Malignant conjunctival melanoma
- Malignant epithelial tumor of ovary
- Malignant fibrous histiocytoma
- Malignant germ cell tumor
- Malignant germ cell tumor of ovary
- Malignant hyperthermia of anesthesia
- Malignant lymphoma, large B-cell, diffuse
- Malignant migrating partial seizures of infancy
- Malignant peripheral nerve sheath tumor
- Malignant peritoneal mesothelioma
- Malignant pineal area germ cell neoplasm
- Malignant pleural mesothelioma
- Malignant Sertoli-Leydig cell tumor of ovary
- Malignant tumor of small intestine
- Mammary-digital-nail syndrome
- MAN1B1-congenital disorder of glycosylation
- Mandibular hypoplasia-deafness-progeroid syndrome
- Mandibular prognathia
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis with alopecia
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Mansonelliasis
- Mantle cell lymphoma
- Maple syrup urine disease
- Marburg virus disease
- Marchiafava-Bignami disease
- Marden-Walker syndrome
- Marfan syndrome
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfanoid habitus-inguinal hernia-advanced bone age syndrome
- Marginal zone lymphoma
- Marie Unna syndrome
- Marinesco-Sjögren syndrome
- Marshall syndrome
- Marshall-Smith syndrome
- Martsolf syndrome 1
- MASA syndrome
- MASS syndrome
- Massa casaer ceulemans syndrome
- Mast cell activation syndrome
- Mast syndrome
- Mastocytosis
- Maternal hyperthermia induced birth defects
- Maternal phenylketonuria
- Maternal riboflavin deficiency
- 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
- Maternally-inherited cardiomyopathy and hearing loss
- Maternally-inherited Leigh syndrome
- Maternally-inherited mitochondrial dystonia
- Maternally-inherited spastic paraplegia
- Matthew-Wood syndrome
- Mature T-cell and NK-cell non-Hodgkin lymphoma
- Maturity-onset diabetes of the young
- Mayer Rokitansky Kuster Hauser syndrome type 1
- Mayer-Rokitansky-Kuster-Hauser syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Mazabraud syndrome
- McCune-Albright syndrome
- McDonough syndrome
- McKusick-Kaufman syndrome
- McLeod neuroacanthocytosis syndrome
- Meacham syndrome
- Meckel syndrome, type 2
- Meckel syndrome, type 3
- Meckel-Gruber syndrome
- Meconium aspiration syndrome
- Medial condensing osteitis of the clavicle
- Median cleft of the upper lip and maxilla
- Median nodule of the upper lip
- Mediastinal yolk sac tumor
- Medich giant platelet syndrome
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- MEDNIK syndrome
- Medullary sponge kidney
- Medullary thyroid carcinoma
- Medulloblastoma
- Meesmann corneal dystrophy
- Megaconial type congenital muscular dystrophy
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
- Megalocornea-intellectual disability syndrome
- MEGF10-related myopathy
- MEHMO syndrome
- Mehta lewis patton syndrome
- Meier-Gorlin syndrome
- Melanoma and neural system tumor syndrome
- Melanoma associated retinopathy
- MELAS syndrome
- Melhem-Fahl syndrome
- Melioidosis
- Melkersson-Rosenthal syndrome
- Melnick-Fraser syndrome
- Melnick-Needles syndrome
- Melorheostosis
- Melorheostosis with osteopoikilosis
- MEND syndrome
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Meningioma
- Meningococcal infection
- Meningoencephalocele
- Menkes kinky-hair syndrome
- Meralgia paresthetica
- Merosin deficient congenital muscular dystrophy
- MERRF syndrome
- Mesangial proliferative glomerulonephritis
- Mesangiocapillary glomerulonephritis, type II
- Mesial temporal lobe epilepsy with hippocampal sclerosis
- Mesoaxial synostotic syndactyly with phalangeal reduction
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Mesomelic dwarfism, Nievergelt type
- Mesomelic dwarfism, Reinhardt-Pfeiffer type
- Mesomelic dysplasia, Kantaputra type
- Mesomelic dysplasia, Savarirayan type
- Mesothelioma, malignant
- Metabolic myopathy due to lactate transporter defect
- Metachondromatosis
- Metachromatic leukodystrophy
- Metageria
- Metaphyseal acroscyphodysplasia
- Metaphyseal anadysplasia
- Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- 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 without hypotrichosis
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- Metaphyseal dysplasia, Braun-Tinschert type
- Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
- Metaplastic breast carcinoma
- Metatropic dysplasia
- Methemoglobin reductase deficiency
- Methylcobalamin deficiency type cblG
- Methylcrotonyl-CoA carboxylase deficiency
- Methylmalonate semialdehyde dehydrogenase deficiency
- Methylmalonic acidemia
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- Methylmalonic acidemia due to transcobalamin receptor defect
- Methylmalonic aciduria and homocystinuria
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Mevalonic aciduria
- MGAT2-congenital disorder of glycosylation
- MHC class I deficiency
- MHC class II deficiency
- Michelin-tire baby
- Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic primordial dwarfism due to RTTN deficiency
- Microcephalic primordial dwarfism due to ZNF335 deficiency
- Microcephalic primordial dwarfism, Alazami type
- Microcephalic primordial dwarfism, Toriello type
- Microcephalus cardiomyopathy syndrome
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- Microcephaly 5, primary, autosomal recessive
- Microcephaly and chorioretinopathy
- Microcephaly micropenis convulsions
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- Microcephaly-albinism-digital anomalies syndrome
- Microcephaly-brachydactyly-kyphoscoliosis syndrome
- Microcephaly-brain defect-spasticity-hypernatremia syndrome
- Microcephaly-capillary malformation syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
- Microcephaly-cervical spine fusion anomalies syndrome
- Microcephaly-cleft palate syndrome
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- Microcephaly-deafness-intellectual disability syndrome
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- 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, normal intelligence and immunodeficiency
- Microcephaly, seizures, and developmental delay
- Microcornea-glaucoma-absent frontal sinuses syndrome
- Microcornea-myopic chorioretinal atrophy
- Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- Microcystic adnexal carcinoma
- Microcystic lymphatic malformation
- Microcytic anemia with liver iron overload
- Microdontia hypodontia short stature
- Microform holoprosencephaly
- Microgastria-limb reduction defect syndrome
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Microlissencephaly
- Microlissencephaly-micromelia syndrome
- Microphthalmia microtia fetal akinesia
- Microphthalmia with brain and digit anomalies
- Microphthalmia with limb anomalies
- Microphthalmia-brain atrophy syndrome
- Microphthalmia, isolated, with cataract 1
- Microphthalmia, isolated, with coloboma
- Microphthalmia, syndromic 12
- Microscopic polyangiitis
- Microspherophakia-metaphyseal dysplasia syndrome
- Microsporidiosis
- Microtia-Anotia
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- Microtriplication 11q24.1
- Midline cervical cleft
- Midline cleft of lower lip
- Mietens syndrome
- Mikati-Najjar-Sahli syndrome
- Mild phenylketonuria
- Miller Dieker syndrome
- Miller Fisher syndrome
- Miller syndrome
- MIRAGE syndrome
- Mirizzi syndrome
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- Mismatch repair cancer syndrome 1
- Mitochondrial complex I deficiency
- Mitochondrial complex II deficiency, nuclear type 1
- Mitochondrial complex III deficiency
- Mitochondrial complex IV deficiency, nuclear-type
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- Mitochondrial DNA deletion syndrome with progressive myopathy
- Mitochondrial DNA depletion syndrome
- Mitochondrial DNA depletion syndrome 11
- Mitochondrial DNA depletion syndrome 13
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- Mitochondrial DNA depletion syndrome 8a
- Mitochondrial DNA depletion syndrome 9
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA depletion syndrome, hepatocerebral form
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
- Mitochondrial DNA depletion syndrome, myopathic form
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Mitochondrial myopathy with diabetes
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial proton-transporting ATP synthase complex deficiency
- Mitochondrial pyruvate carrier deficiency
- Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
- Mitochondrial trifunctional protein deficiency
- Mitral atresia disorder
- Mixed connective tissue disease
- Mixed dust pneumoconiosis
- Mixed gonadal dysgenesis
- Mixed sclerosing bone dystrophy with extra-skeletal manifestations
- Miyoshi muscular dystrophy 3
- Miyoshi myopathy
- MME-related autosomal dominant Charcot Marie Tooth disease type 2
- MMEP syndrome
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- MOGS-congenital disorder of glycosylation
- Mohr syndrome
- MOMO syndrome
- Monilethrix
- Monoclonal gammopathy of undetermined significance
- Monoclonal mast cell activation syndrome
- Monocytopenia with susceptibility to infections
- Monomelic amyotrophy
- Mononen-Karnes-Senac syndrome
- Mononeuritis multiplex
- Monosomy 13q34
- Monosomy 21
- Monosomy 22
- Monosomy 9q22.3
- Morbus Kienboeck
- MORM syndrome
- Morning glory syndrome
- Morquio syndrome
- Morvan syndrome
- Mosaic genome-wide paternal uniparental disomy
- Mosaic trisomy 1
- Mosaic trisomy 10
- Mosaic trisomy 12
- Mosaic trisomy 13
- 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 variegated aneuploidy syndrome
- Mowat-Wilson syndrome
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Moyamoya disease
- Moyamoya disease with early-onset achalasia
- Moynahan syndrome
- MPDU1-congenital disorder of glycosylation
- MPI-congenital disorder of glycosylation
- MRCS syndrome
- Mucoepidermoid carcinoma
- Mucolipidosis type II
- Mucolipidosis type IV
- Mucopolysaccharidosis
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 6
- Mucopolysaccharidosis type 7
- Mucopolysaccharidosis-plus syndrome
- Mucopolysaccharidosis, MPS-I-H/S
- Mucopolysaccharidosis, MPS-I-S
- Mucopolysaccharidosis, MPS-II
- Mucopolysaccharidosis, MPS-III-A
- Mucopolysaccharidosis, MPS-III-B
- Mucopolysaccharidosis, MPS-III-C
- Mucopolysaccharidosis, MPS-III-D
- Mucopolysaccharidosis, MPS-IV-A
- Mucopolysaccharidosis, MPS-IV-B
- Mucosa-associated lymphoma
- Muenke syndrome
- Muir-Torré syndrome
- Mulibrey nanism syndrome
- Mullerian aplasia
- Mullerian aplasia and hyperandrogenism
- Mullerian derivatives-lymphangiectasia-polydactyly syndrome
- Mullerian duct anomalies-limb anomalies syndrome
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Multicentric osteolysis nodulosis arthropathy spectrum
- Multicentric osteolysis, nodulosis, and arthropathy
- Multicentric reticulohistiocytosis
- Multicystic kidney dysplasia
- Multifocal atrial tachycardia
- Multifocal choroiditis
- Multifocal fibrosclerosis
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Multifocal motor neuropathy
- Multifocal pattern dystrophy simulating fundus flavimaculatus
- Multiminicore myopathy
- Multinodular goiter-cystic kidney-polydactyly syndrome
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- Multiple acyl-CoA dehydrogenase deficiency
- Multiple carboxylase deficiency
- Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
- Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Multiple congenital anomalies-hypotonia-seizures syndrome 3
- Multiple congenital exostosis
- Multiple cutaneous and mucosal venous malformations
- Multiple endocrine neoplasia
- Multiple endocrine neoplasia type 2A
- Multiple endocrine neoplasia type 2B
- Multiple endocrine neoplasia type 4
- Multiple endocrine neoplasia, type 1
- Multiple endocrine neoplasia, type 2
- Multiple epiphyseal dysplasia
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Multiple epiphyseal dysplasia type 1
- Multiple epiphyseal dysplasia type 4
- Multiple epiphyseal dysplasia type 5
- Multiple epiphyseal dysplasia, Al-Gazali type
- Multiple epiphyseal dysplasia, Beighton type
- Multiple epiphyseal dysplasia, Lowry type
- Multiple epiphyseal dysplasia, with miniepiphyses
- Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
- Multiple gastrointestinal atresias
- Multiple mitochondrial dysfunctions syndrome 1
- Multiple mitochondrial dysfunctions syndrome 2
- Multiple mitochondrial dysfunctions syndrome 3
- Multiple mitochondrial dysfunctions syndrome 4
- Multiple mitochondrial dysfunctions syndrome 5
- Multiple myeloma
- Multiple paragangliomas associated with polycythemia
- Multiple pterygium syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- Multiple self-healing squamous epithelioma
- Multiple sulfatase deficiency
- Multiple symmetric lipomatosis
- Multiple synostoses syndrome 2
- Multiple synostosis syndrome
- Multiple system atrophy
- Multisystemic smooth muscle dysfunction syndrome
- Muscle eye brain disease
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
- Muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- Muscular dystrophy-white matter spongiosis syndrome
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Mutilating keratoderma
- MVP1
- Myasthenia gravis
- Myasthenia, limb-girdle, autoimmune
- MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
- Mycetoma
- Mycoplasma encephalitis
- Mycosis fungoides
- Myelodysplastic syndrome
- Myelodysplastic syndrome associated with isolated del(5q)
- Myelodysplastic syndrome with excess blasts
- Myelodysplastic syndrome with ring sideroblasts
- Myelodysplastic/myeloproliferative disease
- Myelodysplastic/myeloproliferative neoplasm
- Myeloid leukemia
- Myeloid neoplasm associated with FGFR1 rearrangement
- Myeloid sarcoma
- Myelomeningocele
- Myeloperoxidase deficiency
- Myeloproliferative neoplasm
- MYH7-related skeletal myopathy
- Myhre syndrome
- Myiasis
- Myocardial rupture
- Myocarditis
- Myoclonic cerebellar dyssynergia
- Myoclonic dystonia 11
- Myoclonic epilepsy in non-progressive encephalopathies
- Myoclonus-cerebellar ataxia-deafness syndrome
- Myoclonus-dystonia syndrome
- Myoclonus, familial
- Myofibrillar myopathy
- Myofibrillar myopathy 2
- Myofibrillar myopathy 4
- Myofibrillar myopathy 5
- Myofibrillar myopathy 6
- Myoglobinuria, recurrent
- Myopathy due to calsequestrin and SERCA1 protein overload
- Myopathy with hexagonally cross-linked tubular arrays
- Myopathy with tubular aggregates
- Myopathy, distal, 5
- Myopathy, lactic acidosis, and sideroblastic anemia
- Myopathy, myofibrillar, 13, with rimmed vacuoles
- Myopathy, myofibrillar, 9, with early respiratory failure
- Myopia 6
- Myosin storage myopathy
- Myospherulosis
- Myotonia fluctuans
- Myotonia permanens
- Myotonic dystrophy
- Myotonic dystrophy type 2
- Myxopapillary ependymoma
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