List of rare diseases-M
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NIH genetic and rare disease info[edit source]
List of rare diseases-M is a rare disease.
- M hemoglobinopathy
- M. Abscessus
- M. Chelonae
- M. Fortuitum
- M. Gordonae
- M. Kansasii
- M. Malmoense
- M. Marinum
- M. Xenopi
- M/SCHAD
- M-A
- MAA (formerly)
- MAA2 (formerly)
- Mac Dermot Winter syndrome
- Mac Duffie hypocomplementemic urticarial vasculitis
- Mac Duffie syndrome
- MAC spectrum
- Maccario Mena Weir syndrome
- Macdermot-Winter syndrome
- Machado-Joseph disease
- Macias Flores-Garcia Cruz-Rivera syndrome
- Macias-Flores Garcia-Cruz Rivera syndrome
- MacKay Shek Carr syndrome
- Macrencephaly
- Macrocephalic sperm head syndrome
- Macrocephaly cutis marmorata telangiectatica congenita
- Macrocephaly multiple lipomas and hemangiomata
- Macrocephaly pseudopapilledema and multiple hemangiomas
- Macrocephaly short limbs deafness
- Macrocephaly, benign familial
- Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia
- Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay
- Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism
- Macrocephaly-capillary malformation
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- Macrocephaly-short stature-paraplegia syndrome
- Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)
- Macrocystic lymphatic malformation
- Macrodactyly of the foot
- Macrodactyly of the hand
- Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- Macroepiphyseal dysplasia, McAlister Coe type
- Macroglobulinemia of Waldenstrom
- Macroglossia
- Macrogyria
- Macrogyria, pseudobulbar palsy and mental retardation
- Macromastia
- Macrophage activation syndrome
- Macrophagic myofasciitis
- Macrophagic myofasciitis, childhood
- Macrosomia microphthalmia cleft palate
- Macrosomia with lethal microphthalmia
- Macrosomia, obesity, macrocephaly, ocular abnormalities
- Macrothrombocytopenia progressive deafness
- Macrothrombocytopenia, familial Bernard-Soulier type
- Macrozoospermia
- Macular coloboma
- Macular corneal dystrophy type 1
- Macular degeneration- not a rare disease.
- Macular degeneration, polymorphic vitelline
- Macular dystrophy retinal 1 North Carolina type
- Macular dystrophy, atypical vitelliform
- Macular dystrophy, butterfly-shaped pigmentary
- Macular dystrophy, concentric annular
- Macular dystrophy, corneal type 1
- Macular dystrophy, hemorrhagic
- Macular dystrophy, vitelliform, adult-onset
- Macular telangiectasia type 2- not a rare disease.
- Macules hereditary congenital hypopigmented and hyperpigmented
- Maculopapular cutaneous mastocytosis- not a rare disease.
- Maculopathy, bull's eye
- MAD
- MAD
- MAD
- MADA
- MADB
- MADD
- Madelung deformity
- Madelung disease
- Madelung's disease
- Madokoro Ohdo Sonoda syndrome
- Madras motor neuron disease- not a rare disease.
- MADSAM
- Madura foot
- Mae infertility due to round-headed spermatozoa
- Maeda syndrome
- Maffucci syndrome
- Maghrebian myopathy
- MAGIC syndrome
- Magnesium loss, isolated renal
- Magnesium wasting, renal
- MAHCJ
- Mahvash disease
- MAI
- Mainzer Saldino syndrome
- MAIS
- Majeed syndrome
- Majewski osteodysplastic primordial dwarfism type II
- Majewski syndrome
- Major affective disorder- not a rare disease.
- Major Aphthous Ulcer
- Major Canker Sore
- Major histocompatibility complex class 1 deficiency
- Mal de debarquement
- Mal de debarquement syndrome
- Mal de Meleda
- Mal de Naxos
- Mal del Pinto
- Malacoplakia
- Malakoplakia
- Malaria
- Malayi tropical eosinphilia
- Male breast cancer
- Male breast carcinoma
- Male hypergonadotropic hypogonadism due to LHCGR defect
- Male infertility due to globozoospermia
- Male infertility due to large-headed multiflagellar polyploid spermatozoa
- Male infertility due to macrozoospermia
- Male infertility due to round-headed spermatozoa
- MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
- Male infertility with spermatogenesis disorder due to single gene mutation
- Male infertility with teratozoospermia due to single gene mutation- not a rare disease.
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency
- Male pseudohermaphroditism due to defective LH molecule
- Male pseudohermaphroditism due to LH resistance or LHB deficiency
- Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
- Male pseudohermaphroditism intellectual disability syndrome, Verloes type
- Male pseudoherma-phroditism with gynecomastia
- Male sterility due to Y-chromosome deletions
- Male Turner Syndrome
- Malignant acrospiroma
- Malignant Atrophic Papulosis
- Malignant clear cell acrospiroma
- Malignant cylindroma
- Malignant eccrine poroma
- Malignant eccrine spiradenoma
- Malignant ectomesenchymoma
- Malignant edema
- Malignant fibrohistiocytic tumors
- Malignant fibrous histiocytoma
- Malignant germ cell tumor
- Malignant hyperpyrexia
- Malignant hyperpyrexia susceptibility type 2
- Malignant hyperpyrexia susceptibility type 3
- Malignant hyperpyrexia susceptibility type 4
- Malignant hyperpyrexia susceptibility type 5
- Malignant hyperpyrexia susceptibility type 6
- Malignant hyperthermia
- Malignant hyperthermia - arthrogryposis - torticollis
- Malignant hyperthermia arthrogryposis torticollis
- Malignant hyperthermia susceptibility type 1
- Malignant hyperthermia susceptibility type 2
- Malignant hyperthermia susceptibility type 3
- Malignant hyperthermia susceptibility type 4
- Malignant hyperthermia susceptibility type 5
- Malignant hyperthermia susceptibility type 6
- Malignant islet cell tumor
- Malignant Langerhans cell sarcoma
- Malignant melanoma of the gastrointestinal tract
- Malignant melanoma, childhood
- Malignant mesenchymal tumor
- Malignant mesenchymoma
- Malignant mesothelioma
- Malignant migrating focal seizures of infancy
- Malignant migrating partial epilepsy of infancy
- Malignant migrating partial seizures of infancy
- Malignant mixed Mullerian tumor
- Malignant mixed müllerian tumor of corpus uteri
- Malignant mixed Müllerian tumor of the corpus uteri
- Malignant mixed mullerian tumor of the ovary
- Malignant mixed Müllerian tumor of the ovary
- Malignant myoepithelioma
- Malignant neoplasms of the small intestine
- Malignant neurilemmoma
- Malignant neurofibroma
- Malignant nodular/clear cell hidradenoma
- Malignant paroxysmal ventricular tachycardia
- Malignant peripheral nerve sheath tumor
- Malignant phyllodes tumor of prostate (subtype)
- Malignant pustule
- Malignant rhabdoid tumor
- Malignant schwannoma
- Malignant Teratocarcinosarcoma
- Malignant tumors of the central nervous system associated with familial polyposis of the colon
- Malignant variant of Abrikosov's tumor
- Mallory-Weiss laceration
- Mallory-Weiss syndrome
- Mallory-Weiss tear
- Malonic acidemia
- Malonic aciduria
- Malonicaciduria
- Malonyl-CoA decarboxylase deficiency
- Malouf syndrome
- Malpuech-Michels-Mingarelli-Carnevale syndrome
- MALS
- Malta fever
- Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
- Mammary Paget's disease
- Mammary pseudoangiomatous stromal hyperplasia- not a rare disease.
- MAN1B1-CDG
- Man5GlcNAc2-PP-Dol flippase deficiency
- Mandibular hypoplasia, deafness, progeroid features
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
- Mandibular hypoplasia-deafness-progeroid syndrome
- Mandibular hypoplasia-hearing loss-progeroid syndrome
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis
- Mandibulofacial dysostosis Toriello type
- Mandibulofacial dysostosis with microcephaly
- Mandibulofacial dysostosis, Guion-Almeida type
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
- Mandibulofacial dysostosis-microcephaly syndrome
- Manic depression- not a rare disease.
- Manic-depressive psychosis- not a rare disease.
- Manitoba oculotrichoanal syndrome
- Manitoba Trichoanal syndrome
- Mannose-binding lectin protein deficiency- not a rare disease.
- Mannose-binding protein deficiency- not a rare disease.
- Mannosephosphate isomerase deficiency
- Mannosidosis, alpha B lysosomal
- Mannosidosis, beta A, lysosomal
- Mannosyltransferase 1 deficiency
- Mannosyltransferase 2 deficiency
- Mannosyltransferase 6 deficiency
- Mannosyltransferase 7-9 deficiency
- Mannosyltransferase 8 deficiency
- Manouvrier syndrome
- Mansonella perstans
- Mansonella perstans infections
- Mansonelliasis
- Mansonellosis
- Mantle cell lymphoma
- MAP syndrome
- Map-dot-fingerprint dystrophy of cornea
- Maple syrup urine disease
- Maple syrup urine disease type 1A
- Maple syrup urine disease type 1B
- Maple syrup urine disease type 2
- Maple syrup urine disease, type III
- MAR
- Marble bone disease
- Marble bones
- Marble bones autosomal recessive
- Marble brain disease
- Marburg disease
- Marburg hemorrhagic fever
- Marburg variant
- Marburg virus disease
- Marchiafava Bignami disease
- Marchiafava-Micheli disease
- Marcus Gunn phenomenon
- Marcus Gunn syndrome
- Marden Walker like syndrome
- Marden Walker like syndrome without psychomotor retardation
- Marden-Walker syndrome
- Marek disease
- Marek's Disease
- Marfan syndrome
- Marfanoid craniosynostosis syndrome
- Marfanoid disorder with craniosynostosis type 1
- Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfanoid hypermobility syndrome
- Marfanoid-craniosynostosis syndrome
- Marginal alopecia- not a rare disease.
- Marginal glioneuronal heterotopia
- Marginal zone lymphoma
- Mari type Alopecia universalis congenita
- Marie Unna congenital hypotrichosis
- Marie Unna hereditary hypotrichosis
- Marie-Sainton disease
- Marie-Strumpell spondylitis- not a rare disease.
- Marinesco-Garland Syndrome
- Marinesco-Sjogren syndrome
- Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
- Marinesco-Sjogren Syndrome-Myopathy
- Marinesco-Sjogren-Garland Syndrome
- Marinesco-Sjogren-like syndrome (MSLS)
- Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
- Markel Vikkula Mulliken syndrome
- Marker X syndrome
- Marles syndrome
- Marles-Greenberg-Persaud syndrome
- Maroteaux Fonfria syndrome
- Maroteaux Lamy syndrome
- Maroteaux Le Merrer Bensahel syndrome
- Maroteaux Stanescu Cousin syndrome
- Maroteaux Verloes Stanescu syndrome
- Maroteaux-Malamut syndrome
- Marphanoid syndrome type De Silva
- Marrow hypoplasia associated with congenital neurologic anomalies
- Marsden syndrome
- Marshall syndrome
- Marshall Syndrome
- Marshall-Smith syndrome
- Martin-Bell syndrome
- Martinez Monasterio Pinheiro syndrome
- Martinez-Frias syndrome
- Martsolf syndrome
- MAS
- MAS
- MASA syndrome
- Mason type diabetes
- MASS phenotype
- MASS syndrome
- Massa Casaer Ceulemans syndrome
- Massive macronodular adrenocortical disease
- Masson's pseudoangiosarcoma
- Masson's tumor
- Masson's vegetant intravascular hemangio-endothelioma
- Mast cell activation syndrome
- Mast cell disease
- Mastocytic enterocolitis
- Mastocytoma
- Mastocytosis
- Mastocytosis cutaneous with short stature conductive hearing loss and microtia
- MAT deficiency
- Maternal hyperphenylalaninemia
- Maternal phenylketonuria
- Maternal uniparental disomy of chromosome 14
- Maternally inherited diabetes and deafness
- Maternally inherited Leigh syndrome
- Maternofetal infection by parvovirus
- Mathieu-De Broca-Bony syndrome
- Matthew Wood syndrome
- Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 1
- Maturity-onset diabetes of the young, type 2
- Maturity-onset diabetes of the young, type 3
- Maturity-onset diabetes of the young, type 4
- Maturity-onset diabetes of the young, type 5
- Maturity-onset diabetes of the young, type 6
- Maturity-onset diabetes of the young, type 7
- Maturity-onset diabetes of the young, type 8
- Maturity-onset diabetes of the young, type 8, with exocrine dysfunction
- Maturity-onset diabetes of the young, type 9
- Maumenee corneal dystrophy
- Maxillary double lip
- Maxillofacial dysostosis
- Maxillonasal dysplasia, Binder type
- Maxillopalpebral synkinesis
- May Thurner syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome
- Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)
- May-Hegglin anomaly
- May-Thurner syndrome
- MBA
- MBD
- MBD25–related intellectual disability
- MBD5 Haploinsufficiency
- MBL deficiency- not a rare disease.
- MBS
- MBS2 (formerly)
- MCA due to 14q32.2 maternally expressed gene defect
- MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia
- MCAD deficiency
- MCADD
- MCADH deficiency
- MCAHS type 2
- MCAHS1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
- MCAHS2
- McAlister Coe Whyte syndrome
- McArdle disease
- McArdle type glycogen storage disease
- MCAS
- MCC 1 deficiency
- MCC 2 deficiency
- MCC deficiency
- Mccabe disease
- MCCD
- McCune Albright syndrome
- McCune-Albright syndrome
- MCD
- MCD
- MCD deficiency
- MCDC1
- MCDCA
- McDonough syndrome
- McDowall syndrome
- MCDR1
- MCDS
- MCDS
- McDuffie hypocomplementemic urticarial vasculitis
- McDuffie syndrome
- mcEDS
- McGillivray syndrome
- Mcgrath syndrome
- MCKAT deficiency
- MCKD
- MCKD1
- MCKD2
- McKusick Kaufman syndrome
- MCL
- McLeod neuroacanthocytosis syndrome
- McLeod syndrome
- M-CM
- MCM Deficiency
- M-CMTC
- MCNS
- MCOPS1
- MCOPS10
- MCOPS2
- MCOPS3
- MCOPS4
- MCOPS5
- MCOPS6
- MCOPS7
- MCOPS8
- MCOPS9
- MCOR
- MCPH
- MCPHA
- McPherson Clemens syndrome
- McPherson Robertson Cammarano syndrome
- MCSZ
- MCTD
- MCUL
- MDB
- MDC
- MDC1A
- MDCL
- MDDGA - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- MdDS
- MDEBS
- MD-EBS
- MDK
- MDLS
- MDM
- MDP syndrome
- MDPL syndrome
- MDR3 deficiency
- MDRS1
- MDS
- Meacham Winn Culler syndrome
- Meadows' syndrome
- Measles
- MEB
- Meckel Gruber syndrome
- Meckel syndrome
- Meckel syndrome 7
- Meckel syndrome type 2
- Meckel syndrome type 3
- Meckel syndrome type 7
- Meckel-like syndrome type 1
- Meconium aspiration syndrome
- MECP2 duplication syndrome
- MED
- MED13L haploinsufficiency syndrome
- MED13L syndrome
- MED23
- Medeira-Dennis-Donnai syndrome
- Medial confluence of the breasts
- Medial Medullary Syndrome
- Median arcuate ligament syndrome
- Median cleft face syndrome
- Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome
- Median cleft of upper lip with polyps of facial skin and nasal mucosa
- Median cleft syndrome
- Median cleft upper lip, mental retardation and pugilistic facies
- Median facial cleft syndrome
- Median fissure of nose
- Median nodule of the upper lip
- Mediastinal endodermal sinus tumors
- Mediastinal fibrosis
- Mediastinal fibrosis, familial
- Medication-induced gigantomastia (subtype)
- MED-IDDM syndrome
- Mediterranean anemia
- Mediterranean Kaposi sarcoma
- Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl CoA dehydrogenase deficiency
- Medium-chain 3-ketoacyl-coa thiolase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medrano Roldan syndrome
- Medullary cystic kidney disease 1 (former)
- Medullary cystic kidney disease 2 (former)
- Medullary cystic kidney disease type 1
- Medullary sponge kidney
- Medullary thyroid cancer (MTC)
- Medulloblastoma
- Medulloblastoma, childhood
- Meesman dystrophy
- Meesmann corneal dystrophy
- Meesmann corneal epithelial dystrophy
- Mega cisterna magna (type of DW complex)
- Megaconial congenital muscular dystrophy
- Megaconial congénital muscular dystrophy
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
- Megaduodenum and/or megacystis
- Megaepiphyseal dwarfism
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus
- Megalencephaly cutis marmorata telangiectatica congenita
- Megalencephaly in infancy accompanied by progressive spasticity and dementia
- Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome
- Megalencephaly-capillary malformation syndrome
- Megalencephaly-cystic leukodystrophy
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Megaloblastic anemia 1
- Megaloblastic anemia due to dihydrofolate reductase deficiency
- Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness
- Megalocephaly cutis marmorata telangiectatica congenita
- Megalocornea
- Megalocornea - spherophakia - secondary glaucoma
- Megalocornea mental retardation syndrome
- Megalocornea, multiple skeletal anomalies, and developmental delay
- Megalocornea-intellectual disability syndrome
- Megalocytic interstitial nephritis
- Megalodactylism of the foot
- Megalodactylism of the hand
- Megalodactyly of the foot
- Megalodactyly of the hand
- Megarbane Jalkh syndrome
- Megarbane syndrome
- MEGDEL syndrome
- Mehes syndrome
- MEHMO
- MEHMO syndrome
- Mehta Lewis Patton syndrome
- Mehtylmalonic acidemia with homocystinuria cbI d
- Meier Blumberg Imahorn syndrome
- Meier-Gorlin syndrome
- Meige disease
- Meige dystonia
- Meige lymphedema
- Meige syndrome
- Meigel disease
- Meige's syndrome
- MEIS2 haploinsufficiency
- MEIS2 mutations
- Melanocytic lesions of CNS
- Melanoma and neural system tumor syndrome
- Melanoma astrocytoma syndrome
- Melanoma of the gastrointestinal tract
- Melanoma of the GI tract
- Melanoma of the Uvea
- Melanoma, familial
- Melanoma-associated retinopathy
- Melanoma-pancreatic cancer syndrome- not a rare disease.
- Melanosis, neurocutaneous
- MELAS
- MELAS syndrome
- Meleda disease
- MELF
- Melhem Fahl syndrome
- Melioidosis
- Melkersson syndrome
- Melkersson-Rosenthal syndrome
- Melnick-Fraser syndrome
- Melnick-Needles osteodysplasty
- Melnick-Needles syndrome
- Melorheostosis
- Melorheostosis with osteopoikilosis
- Meltzer syndrome
- Membranoproliferative glomerulonephritis
- Membranoproliferative glomerulonephritis type 2
- Membranoproliferative glomerulonephritis type II
- Membranous glomerulonephritis
- Membranous GN
- Membranous nephropathy
- Membranous obstruction of the inferior vena cava
- Memory loss, extreme sexual behavior, placidity, and visual distractibility
- MEN 1
- MEN 2A
- MEN 2B
- MEN1
- MEN2
- MEN-2A syndrome
- Mende Syndrome
- Mendelian susceptibility to atypical mycobacteria
- Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to mycobacterial diseases
- Mendelian susceptibility to mycobacterial diseases
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Mendelian susceptibility to mycobacterial infections
- Mendelian susceptibility to mycobacterial infections due to IL12 deficiency
- Mendenhall Syndrome
- Menetrier disease
- Mengel-Konigsmark syndrome
- Meniere disease- not a rare disease.
- Meniere's disease- not a rare disease.
- Ménière's disease- not a rare disease.
- Meningeal capillary angiomatosis
- Meningeal syphilis
- Meningioma
- Meningioma, spine
- Meningitis, bacterial
- Meningitis, neonatal
- Meningitis, syphilitic
- Meningocele
- Meningococcal disease
- Meningococcal infection
- Meningococcemia
- Meningoencephalitis caused by Naegleria fowleri
- Meningoencephalocele
- Meningoencephalocele, arthrogryposis and hypoplastic thumbs
- Meningomyelocele
- Menkea syndrome
- Menkes disease
- Menkes syndrome
- Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity
- Mental deficiency, epilepsy and endocrine disorders
- Mental retardation , X-linked with seizures, short stature and midface hypoplasia
- Mental retardation , X-linked, with creatine transport deficiency
- Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA)
- Mental retardation Buenos Aires type
- Mental retardation psychosis macroorchidism
- Mental retardation short stature hypertelorism
- Mental retardation skeletal dysplasia abducens palsy
- Mental retardation Smith Fineman Myers type
- Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
- Mental retardation syndrome, Mietens Weber type
- Mental retardation with optic atrophy, deafness, and seizures
- Mental retardation with osteocartilaginous abnormalities
- Mental retardation with psychosis, pyramidal signs, and macroorchidism
- Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
- Mental retardation X-linked severe Gustavson type
- Mental retardation X-linked Shashi type
- Mental retardation X-linked Siderius type
- Mental retardation X-linked syndromic 11
- Mental retardation X-linked syndromic 5
- Mental retardation X-linked syndromic 7
- Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures
- Mental retardation X-linked, Tranebjaerg type seizures and psoriasis
- Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose
- Mental retardation, autosomal dominant 20
- Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure
- Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
- Mental retardation, epilepsy, short stature and skeletal dysplasia
- MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH
- Mental retardation, keratoconus, febrile seizures, and sinoatrial block
- Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum
- Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia
- Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
- Mental retardation, microcephaly, epilepsy, and coarse face
- Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate
- Mental retardation, obesity, hypogonadism, and tapering fingers
- Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect
- Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair
- Mental retardation, tall stature, obesity, macrocephaly and typical facial features
- Mental retardation, truncal obesity, retinal dystrophy and micropenis
- Mental retardation, X-linked 14
- Mental retardation, X-linked nonspecific, type 14
- Mental retardation, X-linked Renpenning type
- Mental retardation, X-linked, Hyde-Forster type
- Mental retardation, X-linked, Lubs type (formerly)
- Mental retardation, X-linked, syndromic 13
- Mental retardation, X-linked, syndromic 2
- MENTAL RETARDATION, X-LINKED, SYNDROMIC 28
- Mental retardation, X-linked, syndromic 6 (formerly)
- Mental retardation, X-linked, syndromic 8
- Mental retardation, X-linked, with craniofacial dysmorphism
- Mental retardation, X-linked, with gynecomastia and obesity (formerly)
- Menzel type OPCA
- MEPAN syndrome
- Meralgia paraesthetica familial (type)
- Meralgia paresthetica
- Mercury poisoning
- Mercury toxicity
- Merkel cell cancer
- Merkel cell carcinoma
- Merkle tumors
- Mermaid malformation
- Mermaid syndrome
- Merosin-deficient congenital muscular dystrophy
- Merosin-negative congenital muscular dystrophy
- MERRF
- Merrf syndrome
- Merten-Singleton syndrome
- MES
- Mesangial proliferative glomerulonephritis
- Mesangial proliferative GN
- Mesangial sclerosis, diffuse
- Mesangiocapillary glomerulonephritis
- Mesangiocapillary glomerulonephritis type 2
- Mesangioproliferative glomerulonephritis
- Mesangioproliferative glomerulopathy
- Mesenteric fibromatosis
- Mesenteric lipodystrophy
- Mesenteric lipogranuloma
- Mesenteric panniculitis
- Mesiodens cataract syndrome
- Mesodermal dysmorphodystrophy congenital
- Mesoectodermal dysplasia
- Mesomelia
- Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation
- Mesomelia synostoses
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism Campailla-Martinelli type
- Mesomelic dwarfism cleft palate camptodactyly
- Mesomelic dwarfism Nievergelt type
- Mesomelic dwarfism of hypoplastic tibia and radius type
- Mesomelic dwarfism of hypoplastic ulna and fibula type
- Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type
- Mesomelic dwarfism-small genitalia syndrome
- Mesomelic dysplasia Kantaputra type
- Mesomelic dysplasia Reinhardt-Pfeiffer type
- Mesomelic dysplasia Savarirayan type
- Mesomelic dysplasia skin dimples
- Mesomelic dysplasia Thai type
- Mesomelic dysplasia with absent fibulas and triangular tibias
- Mesomelic dysplasia with ankle carpal and tarsal synostosis
- Mesomelic limb shortening and bowing
- Mesomelic shortening and hereditary nephritis
- Mesothelioma, malignant
- MesPGN
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness
- Metabolic syndrome X
- Metacarpals 4 and 5 fusion
- Metachondromatosis
- Metachromatic leukodystrophy
- Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency
- Metachromatic leukodystrophy due to saposin B deficiency
- Metachromatic leukoencephalopathy
- Metageria
- Metagonimiasis
- Metagonimus yokogawai infection
- Metaphyseal acroscyphodysplasia
- Metaphyseal anadysplasia
- Metaphyseal and epiphyseal dysplasia with unusual facies and cataract
- Metaphyseal chondrodysplasia McKusick type
- Metaphyseal chondrodysplasia Murk Jansen type
- Metaphyseal chondrodysplasia Schmid type
- Metaphyseal chondrodysplasia Spahr type
- Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia
- Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
- Metaphyseal chondrodysplasia with ectodermal dysplasia
- Metaphyseal chondrodysplasia, others
- Metaphyseal chondroplasia Rosenberg type
- Metaphyseal dysostosis, conductive hearing loss and mental retardation (formerly)
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Metaphyseal dysplasia
- Metaphyseal dysplasia hypertelorism hypospadias
- Metaphyseal dysplasia maxillary hypoplasia brachydactyly
- Metaphyseal dysplasia Pyle type
- Metaphyseal dysplasia without hypotrichosis
- Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia
- Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
- Metaplastic breast cancer
- Metaplastic carcinoma of the breast
- Metastatic dermatofibrosarcoma protuberans (subtype)
- Metastatic insulinoma
- Metastatic squamous neck cancer with occult primary
- Metatarsus adductus- not a rare disease.
- Metatropic dwarfism
- Metatropic dysplasia
- Metatropic dysplasia, nonlethal dominant
- METCDS
- Methacrylic acid toxicity
- Methacrylic aciduria
- Methemoglobinemia due to deficiency of methemoglobin reductase
- Methemoglobinemia, beta-globin type
- Methimazole antenatal exposure
- Methimazole embryofetopathy
- Methimazole/carbimazole embryofetopathy
- Methimazole/carbimazole embryopathy
- Methionine adenosyltransferase deficiency
- Methionine synthase deficiency
- Methyl mercury antenatal exposure
- Methylcobalamin deficiency cbl G type
- Methylcrotonylglycinuria type 2
- Methylenetetrahydro-folate reductase deficiency
- Methylenetetrahydrofolate reductase variant- not a rare disease.
- Methylmalonic acidemia
- Methylmalonic acidemia and homocysteinemia type cblX
- Methylmalonic acidemia and homocysteinemia, cblX type
- Methylmalonic acidemia and homocystinemia
- Methylmalonic acidemia and homocystinuria cblc
- METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE
- Methylmalonic acidemia cblA type
- Methylmalonic acidemia cblB 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 cblD
- Methylmalonic acidemia with homocystinuria, type cblJ
- Methylmalonic acidemia with homocystinuria, type cblX
- METHYLMALONIC ACIDEMIA, cblB TYPE
- METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY
- Methylmalonic aciduria and homocystinuria cblc
- Methylmalonic aciduria and homocystinuria, cblC type
- Methylmalonic aciduria and homocystinuria, cblJ type
- Methylmalonic aciduria cblA type
- Methylmalonic aciduria cblB type
- 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, cblA type
- Methylmalonic aciduria, cblB type
- METHYLMALONIC ACIDURIA, cblB TYPE
- METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED
- METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY
- Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type
- METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
- Methylmalonyl-Coenzyme A mutase deficiency
- Mevalonic aciduria
- Mevalonicaciduria
- Meyer-Schwickerath's syndrome
- MFD Toriello type
- MFD1
- MFDGA
- MFDM
- MFDM syndrome
- MFM-titinopathy
- MFT1
- MFT2
- MGA 5
- MGA type I
- MGA type II
- MGA type III
- MGA V
- MGA3
- MGA5
- MGAT2-CDG
- MGAT2-CDG (CDG-IIa)
- MGC1
- MGCN
- MGN
- MGS
- MGUS
- MH
- MHAC
- MHAM
- MHBD deficiency
- MHC class 1 deficiency
- MHP1
- MHP2
- MHP3
- MHS
- MHS1
- MHS2
- MHS3
- MHS4
- MHS5
- MHS6
- Michelin tire baby syndrome
- Michellis-Castrillo syndrome
- Michels Caskey syndrome
- MICPCH
- MICPCH SYNDROME
- Micro syndrome
- Microangiopathic hemolytic anemia
- Microangiopathic hemolytic anemia, congenital
- Microbrachycephaly ptosis cleft lip
- Microcephalia vera
- Microcephalic osteodysplastic primordial dwarfism type 1
- Microcephalic osteodysplastic primordial dwarfism type 2
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3
- Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
- Microcephalic primordial dwarfism and cataracts
- Microcephalic primordial dwarfism Toriello type
- Microcephalic primordial dwarfism, Montreal type
- Microcephaly
- Microcephaly - brain defect - spasticity - hypernatremia
- Microcephaly - intracranial calcification - intellectual disability
- Microcephaly - seizures - developmental delay
- Microcephaly autosomal dominant
- Microcephaly brachydactyly kyphoscoliosis
- Microcephaly brain defect spasticity hypernatremia
- Microcephaly cervical spine fusion anomalies
- Microcephaly chorioretinopathy recessive form
- Microcephaly cleft palate autosomal dominant
- Microcephaly deafness syndrome
- Microcephaly glomerulonephritis Marfanoid habitus
- Microcephaly hypogammaglobulinemia abnormal immunity
- Microcephaly immunodeficiency lymphoreticuloma
- Microcephaly lymphedema chorioretinal dysplasia
- Microcephaly microcornea syndrome Seemanova type
- Microcephaly micropenis convulsions
- Microcephaly micropenis seizures
- Microcephaly microphthalmia ectrodactyly of lower limbs and prognathism
- Microcephaly microphthalmos blindness
- Microcephaly nephrosis syndrome
- Microcephaly nonsyndromal
- Microcephaly pontocerebellar hypoplasia dyskinesia
- Microcephaly seizures genital hypoplasia
- Microcephaly vera
- Microcephaly with autosomal dominant inheritance
- Microcephaly with cardiomyopathy
- Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- Microcephaly with chorioretinopathy, autosomal dominant form
- Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies
- microcephaly with pontine and cerebellar hypoplasia
- Microcephaly with spastic diplegia
- Microcephaly with spastic quadriplegia
- Microcephaly, Amish type
- Microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency
- Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis
- Microcephaly, corpus callosum dysgenesis and cleft lip-palate
- Microcephaly, facial clefting, and preaxial polydactyly
- Microcephaly, hiatal hernia, and nephrotic syndrome
- Microcephaly, holoprosencephaly, and intrauterine growth retardation
- Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
- Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism
- Microcephaly, mild mental retardation, short stature, and skeletal anomalies
- Microcephaly, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy and nystagmus
- Microcephaly, seizures, and developmental delay
- Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability
- Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia
- Microcephaly-albinism-digital anomalies syndrome
- Microcephaly-cardiomyopathy
- Microcephaly-cardiomyopathy syndrome
- Microcephaly-cerebral malformation-orofaciodigital syndrome
- Microcephaly-intracranial calcification-intellectual disability syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- Microcephaly-oculo-digito-esophageal-duodenal syndrome
- Microcoria - congenital nephrosis
- Microcoria - congenital nephrotic syndrome
- Microcoria, congenital
- Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
- Microcornea cataract syndrome
- Microcornea corectopia macular hypoplasia
- Microcornea, glaucoma, and absent frontal sinuses
- Microcystic adnexal carcinoma
- Microcystic dystrophy of the cornea
- Microcystic infiltrating lymphatic malformation
- Microcystic lymphangioma
- Microcystic lymphatic malformation
- Microcytic anemia and hepatic iron overload
- Microcytic anemia with liver iron overload
- Microdeletion 15q13.3 syndrome
- Microdeletion 16p11.2
- Microdeletion 17q21.31 syndrome
- Microdontia hypodontia short stature
- Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality
- Microduplication 15q13.3 syndrome
- Microduplication 3q29 syndrome
- Microduplication Xp11.22p11.23 syndrome
- Microduplication Xp11.22-p11.23 syndrome
- Microencephaly
- Microgastria limb reduction defect
- Microgastria-limb reduction defects association
- Microhydranencephaly
- Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects
- Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
- Micromelic dysplasia congenita with dislocation of radius
- Micropenis
- Microphthalmia
- Microphthalmia and brain atrophy
- Microphthalmia and esophageal atresia syndrome
- Microphthalmia and pituitary anomalies
- Microphthalmia associated with colobomatous cyst
- Microphthalmia cataracts radiculomegaly and septal heart defects
- Microphthalmia Dermal Aplasia and Sclerocornea syndrome
- Microphthalmia Lenz type
- Microphthalmia microtia fetal akinesia
- Microphthalmia or anophthalmos with associated anomalies (formerly)
- Microphthalmia syndromic 1
- Microphthalmia syndromic 10
- Microphthalmia syndromic 2
- Microphthalmia syndromic 4
- Microphthalmia syndromic 5
- Microphthalmia syndromic 6
- Microphthalmia syndromic 8
- Microphthalmia syndromic 9
- Microphthalmia with ankyloblepharon and mental retardation
- Microphthalmia with brain and digit developmental anomalies
- Microphthalmia with cataract 1
- Microphthalmia with facial clefting
- Microphthalmia with linear skin defects
- Microphthalmia with linear skin defects syndrome
- Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
- Microphthalmia-anophthalmia-coloboma spectrum
- Microphthalmia-dermal aplasia-sclerocornea syndrome
- Microphthalmia-microtia-fetal akinesia
- Microphthalmia-optic nerve dysplasia
- Microphthalmos bilateral, colobomatous orbital cyst
- Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities
- Microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism
- Micropthalmia syndromic 7
- Microscopic colitis, collagenous type- not a rare disease.
- Microscopic polyangiitis
- Microsomal triglyceride transfer protein deficiency
- Microsomal triglyceride transfer protein deficiency disease
- Microsomia hemifacial radial defects
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
- Microspherophakia with hernia
- Microspherophakia-metaphyseal dysplasia
- Microsporidiasis
- Microsporidiosis
- Microtia aortic arch syndrome
- Microtia eye coloboma and imperforation of the nasolacrimal duct
- Microtia, absent patellae, micrognathia syndrome
- Microtia, meatal atresia and conductive deafness
- Microtia-Anotia
- Microvillus atrophy, congenital
- Microvillus inclusion disease
- MIDAS syndrome
- Midbrain stroke syndromes
- MIDD
- Middigital hair
- Midline cleft of lower lip
- Midline development field defects
- Midline granulomatosis
- Midline lethal granuloma
- Midphalangeal hair
- Miescher elastoma
- Mietens syndrome
- Mietens-Weber syndrome
- Mievis Verellen-Dumoulin syndrome
- Migraine with brainstem aura
- Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
- Migraine, familial hemiplegic, 2
- Migraine, familial hemiplegic, 3
- Migrainous syndrome with cerebrospinal fluid pleocytosis
- Migrating partial epilepsy of infancy
- Migrating partial seizures in infancy
- Migrating partial seizures of infancy
- Mikaelian syndrome
- Mikulicz disease (former)
- Mikulicz syndrome (former)
- Mikulicz's disease (former)
- Mild ABCB11 deficiency
- Mild androgen insensitivity syndrome
- Mild ATP8B1 deficiency
- Mild form of FAP
- Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies
- Mild nemaline myopathy
- Mild osteogenesis imperfecta
- Mild phenylketonuria
- Mild PKU
- Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis
- Miliaria, apocrine
- Miliary hepatocellular adenomatosis
- Miller syndrome
- Miller-Dieker lissencephaly syndrome
- Miller-Dieker syndrome
- Miller-Fisher syndrome
- Milner Khallouf Gibson syndrome
- Milroy disease
- Milroy's disease
- MILS
- Minamata disease
- MINDS syndrome
- Mineralocorticoid excess- not a rare disease.
- Minicore myopathy with external ophthalmoplegia
- Minicore myopathy, antenatal onset, with arthrogryposis
- Minicore myopathy, severe classic form
- Minimal change disease
- Minimal change glomerulopathy
- Minimal change nephrotic syndrome
- Minor streblomicrodactyly, familial
- Minoxidil antenatal exposure
- Minoxidil antenatal infection
- Miosis, congenital
- MIRAGE syndrome
- Mirhosseini-Holmes-Walton syndrome
- Mirizzi syndrome
- Mirizzi's syndrome
- Mirror hands and feet with nasal defects
- Mirror movements
- Mirror polydactyly segmentation and limbs defects
- Mismatch Repair Cancer Syndrome
- Mismatch Repair Deficiency
- Misophonia
- Missouri type of spondyloepimetaphyseal dysplasia
- Mitchell disease (formerly)
- Mitchell-Riley syndrome
- Mitochondrial acetoacetyl-CoA Thiolase deficiency
- MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
- Mitochondrial carbonic anhydrase va deficiency
- Mitochondrial complex deficiency, combined
- Mitochondrial complex I deficiency
- Mitochondrial complex II deficiency
- Mitochondrial complex III deficiency
- Mitochondrial complex IV deficiency
- Mitochondrial complex V deficiency
- Mitochondrial cytopathy
- Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
- Mitochondrial DNA depletion syndrome
- Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- Mitochondrial DNA depletion syndrome 6
- Mitochondrial DNA depletion syndrome 8A
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive
- 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 due to DGUOK deficiency
- Mitochondrial DNA depletion syndrome-5
- Mitochondrial DNA-associated Leigh syndrome
- 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
- Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- Mitochondrial enoyl CoA reductase protein-associated neurodegeneration
- Mitochondrial genetic disorders
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Mitochondrial myopathy with diabetes
- Mitochondrial myopathy with lactic acidosis
- Mitochondrial myopathy, lipid type
- Mitochondrial NADH dehydrogenase component of complex I, deficiency of
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial respiratory chain complex II deficiency
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- Mitochondrial trifunctional protein deficiency
- Mitral atresia
- Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
- Mitral regurgitation, familial
- Mitral valve prolapse, familial, autosomal dominant
- Mitral valve prolapse, familial, X-linked
- Mixed cell tumors containing both neural ganglionic cells and neural glial cell components
- Mixed cerebral palsy- not a rare disease.
- Mixed connective tissue disease
- Mixed dust pneumoconiosis
- Mixed hyperlipemia
- Mixed lineage acute leukemia
- Mixed müllerian cancer of corpus uteri
- Mixed Mullerian tumor
- Mixed phenotype acute leukemia
- Mixed sclerosing bone dystrophy
- Mixed spasmodic dysphonia (type)
- Mixed tumor, Mullerian
- Miyoshi distal myopathy
- Miyoshi myopathy
- MJD
- MKKS
- MKS
- MKS2
- MKS3
- ML 2
- ML 3 A
- ML 4
- ML disorder type 2
- ML1
- ML3
- MLASA
- MLC
- MLD
- MLRD
- MLS syndrome
- MLT
- MM
- MMA
- MMA cbl A type
- MMAD
- MMAS
- MMDD
- MMDK
- MMEP
- MMEP syndrome
- MMF
- MMIH syndrome
- MMIHS
- MMMT
- MMMT of the ovary
- MMN
- MMNCB
- MMND- not a rare disease.
- MMPEI
- MMPSI
- MMR Deficiency
- MMR syndrome
- MMRCS
- MMS
- MMT syndrome
- MND
- MNDJ
- MNG/CRD/DA
- MNGIE
- MNGIE syndrome
- MNRI
- MNS
- MOBA
- Mobius syndrome
- Mobius syndrome 2 (formerly)
- MOCOD
- MODY
- MODY type 3
- MODY glucokinase-related
- MODY hepatocyte nuclear factor-1-alpha related
- MODY HNF4A related
- MODY insulin promoter factor-1 related
- MODY KLF11 related
- MODY NEUROD1 related
- MODY PAX4 related
- MODY type 1
- MODY type 2
- MODY type 4
- MODY type 5
- MODY type 6
- MODY type 7
- MODY type 9
- MODY1
- MODY2
- MODY3
- MODY4
- MODY5
- MODY6
- MODY7
- MODY8
- MODY9
- Moebius axonal neuropathy hypogonadism
- Moebius sequence
- Moebius sequence, Robin complex, and hypotonia
- Moebius syndrome
- Moebius syndrome 2 (formerly)
- Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type
- Moerman Van den berghe Fryns syndrome
- Moersch-Woltman syndrome
- Moeschler Clarren syndrome
- MOGS-CDG
- MOGS-CDG (CDG-IIb)
- Mohr syndrome
- Mohr-Tranebjaerg syndrome
- Mohr-Wriedt type brachydactyly
- Molar I reinclusion
- Molar pregnancy
- Mollaret meningitis
- Mollaret's meningitis
- Moloney syndrome
- Molybdenum cofactor deficiency
- MOMO syndrome
- MONA syndrome
- Monday morning fever
- Mondini dysplasia
- Mondor disease
- Mondor's disease
- Mondor's syndrome of superficial thrombophlebitis
- Monilethrix
- Monkeypox
- Monkeypox virus infection
- Monoamine oxidase A deficiency
- Monocarboxylate transporter-8 deficiency
- Monoclonal gammopathy of undetermined significance
- Monoclonal mast cell activation syndrome
- Monoclonal MCAD
- Monocyte - B - natural killer - dendritic cell deficiency
- Monocytopenia and mycobacterial infection syndrome
- Monocytopenia with susceptibility to infections
- Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia
- Monogenic diabetes- not a rare disease.
- MONOMAC
- Monomelic amyotrophy
- Monomodal visual amnesia
- Monomorphic clear cell tumor
- Monomorphic NK-cell lymphoma
- Mononen Karnes Senac syndrome
- Mononeuritis multiplex
- Monosaccharide malabsorption
- Monosomy 10p
- Monosomy 10q
- Monosomy 10q22.3q23.3
- Monosomy 11p
- Monosomy 11q
- Monosomy 12p
- Monosomy 12q
- Monosomy 12q14
- Monosomy 13q
- Monosomy 14q
- Monosomy 14q22q23
- Monosomy 14q22-q23
- Monosomy 15q
- Monosomy 15q11.2
- Monosomy 15q24
- Monosomy 16p
- Monosomy 16p11.2
- Monosomy 16q
- Monosomy 16q24.3
- Monosomy 17p
- Monosomy 17q
- Monosomy 17q11
- Monosomy 17q12
- Monosomy 17q21.31
- Monosomy 17q23.1q23.2
- Monosomy 17q23.1-q23.2
- Monosomy 18 mosaicism
- Monosomy 18p
- Monosomy 18q syndrome
- Monosomy 18q syndrome
- Monosomy 19p
- Monosomy 19p13.12
- Monosomy 19q
- Monosomy 1p
- Monosomy 1p36 syndrome
- Monosomy 1q
- Monosomy 1q21.1
- Monosomy 1q41-q42
- Monosomy 1q44
- Monosomy 20p
- Monosomy 20p12.3
- Monosomy 20q
- Monosomy 21q
- Monosomy 22 mosaicism
- Monosomy 22q
- Monosomy 22q13
- Monosomy 22q13.3
- Monosomy 2p
- Monosomy 2p15p16.1
- Monosomy 2p15-p16.1
- Monosomy 2q
- Monosomy 2q23.1
- Monosomy 2q24
- Monosomy 2q32-q33
- Monosomy 3p
- Monosomy 3pter
- Monosomy 3q
- Monosomy 3q29
- Monosomy 3qter
- Monosomy 4p
- Monosomy 4q
- Monosomy 5p
- Monosomy 5p
- Monosomy 5q
- Monosomy 5q14.3
- Monosomy 6p
- Monosomy 6q
- Monosomy 6q25
- Monosomy 7p
- Monosomy 7q
- Monosomy 7q11.23
- Monosomy 8p
- Monosomy 8p23.1
- Monosomy 8q
- Monosomy 8q24.1
- Monosomy 9p
- Monosomy 9q
- Monosomy Xp
- Monosomy Xq
- Montefiore syndrome
- Montgomery syndrome
- MOPD 1
- MOPD 2
- MOPD II
- Moran-Barroso Syndrome
- Morgagni-Stewart-Morel syndrome
- Morgellons
- Morgellon's
- MORM syndrome
- Morning glory disc anomaly
- Morning glory syndrome
- Morphea
- Morquio A disease
- Morquio disease
- Morquio disease type A
- Morquio syndrome A
- Morquio syndrome B
- Morsch Woltman syndrome
- Morse-Rawnsley-Sargent syndrome
- Morvan disease
- Morvan's fibrillary chorea
- Mosaic monosomy 18
- Mosaic monosomy 22
- Mosaic monosomy chromosome 18
- Mosaic monosomy chromosome 22
- Mosaic tetrasomy 9p
- Mosaic triploidy
- Mosaic trisomy 10
- Mosaic trisomy 13
- Mosaic trisomy 14
- Mosaic trisomy 16
- Mosaic trisomy 1q12 q21
- Mosaic trisomy 2
- Mosaic trisomy 20
- Mosaic trisomy 22
- Mosaic trisomy 6
- Mosaic trisomy 7
- Mosaic trisomy 8
- Mosaic trisomy 9
- Mosaic trisomy chromosome 13
- Mosaic trisomy chromosome 14
- Mosaic trisomy chromosome 22
- Mosaic trisomy chromosome 7
- Mosaic trisomy chromosome 8
- Mosaic trisomy chromosome 9
- Mosaic trisomy of chromosome 5
- Mosaic variegated aneuploidy syndrome
- Moschowitz syndrome
- MOTA syndrome
- Mother-to-child transmission of toxoplasmosis- not a rare disease.
- Motor neurone disease
- Motor neuropathy, distal, Jerash type
- Mounier Kuhn syndrome
- Mounier-Kuhn syndrome
- Mountain sickness
- Mousa Al din Al Nassar syndrome
- Mouth and genital ulcers with inflamed cartilage
- Mouth and genital ulcers-inflamed cartilage syndrome
- Mowat-Wilson syndrome
- Moyamoya disease
- Moyamoya syndrome
- Moynahan alopecia syndrome
- Moynahan syndrome
- MPAN
- MPD2
- MPDU1-CDG
- MPDU1-CDG (CDG-If)
- MPDU1-CDG (CDG-If)
- MPEI
- MPGN
- MPGN 2
- MPI deficiency
- MPI-CDG (CDG-Ib)
- MPI-CDG (CDG-Ib)
- mPKU
- MPKU
- MPNST
- MPO deficiency
- MPPC syndrome
- MPPH syndrome
- MPS
- MPS 1
- MPS 2
- MPS 3A
- MPS 3B
- MPS 3C
- MPS 3D
- MPS 4A
- MPS 4B
- MPS 6
- MPS 7
- MPS I
- MPS II
- MPS IIIA
- MPS IIIB
- MPS IIIC
- MPS IIID
- MPS IVA
- MPS IVB
- MPS V, FORMERLY
- MPS VI
- MPS VII
- MPS1H
- MPS1-H
- MPS1H/S
- MPS1-HS
- MPS1S
- MPS1-S
- MPS3A
- MPS3C
- MPS3D
- MPS4
- MPS4A
- MPS5, FORMERLY
- MPSI
- MPSIH
- MPSIH/S
- MPSIII
- MPSIIIA
- MPSIIIC
- MPSIIID
- MPSIS
- MPSIV
- MPSIVA
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- MPZ-related intermediate Charcot-Marie-Tooth neuropathy
- MRCLS
- MRD
- MRD5
- MRKH syndrome
- MROS
- MRS
- MRX14
- MRXS Christianson
- MRXS1
- MRXS11
- MRXS13
- MRXS2
- MRXS3
- MRXS5
- MRXS6
- MRXS7
- MRXS8
- MRXSAB
- MRXSL
- MRXSSD
- MS- not a rare disease.
- MS pediatric
- MSA
- MSBD syndrome
- MSBD syndrome
- MSD
- Mseleni joint disease- not a rare disease.
- MSK
- MSM syndrome
- MSMD
- MSMD
- MSMD due to complete IL12RB1 deficiency
- MSMD due to complete interleukin 12 receptor beta 1 deficiency
- MSPKA
- MSS
- MSSD
- MSSE
- MSTD
- MSUD
- MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex
- MSUD type 1A
- MSUD type 2
- MSUD type 3 (formerly)
- MSUD type IB
- MSUD2
- 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
- MTDPS13
- MTDPS6
- MTHFR gene variant- not a rare disease.
- MTP deficiency
- MTS
- MUC1-related autosomal dominant medullary cystic kidney disease
- MUC1-related autosomal dominant tubulointerstitial kidney disease
- Mucha-Habermann disease
- Mucin-1 kidney disease
- Mucinous adenocarcinoma
- Mucinous carcinoid
- MUCI-related ADTKD
- Muckle Wells syndrome
- Muckle-Wells syndrome
- Mucocutaneous lymph node syndrome
- Mucoepidermoid carcinoma
- Mucoepithelial dysplasia, hereditary
- Mucolipidosis 2
- Mucolipidosis III alpha/beta
- Mucolipidosis type 1
- Mucolipidosis type 3A
- Mucolipidosis type 4
- Mucolipidosis type IV
- Mucopolysaccharidosis
- Mucopolysaccharidosis Ih
- Mucopolysaccharidosis Ih/s
- Mucopolysaccharidosis Is
- Mucopolysaccharidosis type 1H
- Mucopolysaccharidosis type 1H/S
- Mucopolysaccharidosis type 1S
- Mucopolysaccharidosis type 3
- Mucopoly-saccharidosis type 3
- Mucopolysaccharidosis type 3A
- Mucopoly-saccharidosis type 3A
- Mucopoly-saccharidosis type 3B
- Mucopolysaccharidosis type 3C
- Mucopoly-saccharidosis type 3C
- Mucopolysaccharidosis type 3D
- Mucopoly-saccharidosis type 3D
- Mucopolysaccharidosis type 4
- Mucopolysaccharidosis type 4A
- Mucopolysaccharidosis type 6
- Mucopolysaccharidosis type 7
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type IH
- Mucopolysaccharidosis type IH/S
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type III
- Mucopolysaccharidosis type IIIA
- Mucopolysaccharidosis type IIIB
- Mucopolysaccharidosis type IIIC
- Mucopolysaccharidosis type IIID
- Mucopolysaccharidosis type IS
- Mucopolysaccharidosis type IV
- Mucopolysaccharidosis type IVA
- Mucopolysaccharidosis type IVB
- MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY
- Mucopolysaccharidosis type VI
- Mucopoly-saccharidosis type VI
- Mucopolysaccharidosis type VII
- Mucormycosis
- Mucosal lacerations - gastroesophageal junction
- Mucosal neuroma syndrome
- Mucosulfatidosis
- Mucoviscidosis
- Mud fever
- Muenke nonsyndromic coronal craniosynostosis
- Muenke Syndrome
- MUHH
- Muir-Torre syndrome
- Mulberry teeth
- Mulibrey Nanism
- Muller Barth Menger syndrome
- Mullerian adenosarcoma of the uterus
- Müllerian agenesis
- Mullerian aplasia
- Mullerian aplasia with hypoplastic thumbs
- Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities
- Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies
- Mullerian dysgenesis
- Multicentric carpotarsal osteolysis syndrome
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Multicentric Castleman Disease
- Multicentric giant lymph node hyperplasia
- Multicentric osteolysis nephropathy
- Multicentric osteolysis, nodulosis and arthropathy
- Multicentric plasma cell variant of Castleman's disease
- Multicentric reticulohistiocytosis
- Multicore disease
- Multicore myopathy with external ophthalmoplegia
- Multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
- Multicore myopathy, antenatal onset, with arthrogryposis
- Multicore myopathy, severe classic form
- Multicystic renal dysplasia, bilateral
- Multifocal acquired demyelinating sensory and motor neuropathy
- Multifocal choroiditis
- Multifocal fibrosclerosis
- Multifocal fibrosclerosis
- Multifocal idiopathic fibrosclerosis
- Multifocal inner choroiditis
- Multifocal lymphangioendotheliomatosis with thrombocytopenia
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Multifocal motor neuropathy
- Multifocal motor neuropathy with conduction block
- Multifocal osteomyelitis, chronic
- Multifocal placoid pigment epitheliopathy
- Multifocal ventricular premature beats
- Multi-infarct dementia
- Multilocular peritoneal cysts
- Multilocular peritoneal inclusion cysts
- Multiminicore disease with external ophthalmoplegia
- Multiminicore disease, severe classic form
- Multiminicore myopathy, antenatal onset, with arthrogryposis
- Multinodular goiter - cystic kidney - polydactyly
- Multinodular goiter, cystic renal disease, and digital anomalies
- Multiocre myopathy
- Multiple Acyl-CoA dehydrogenase deficiency
- Multiple Angiomas and Endochondromas
- Multiple basal cell carcinoma
- Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
- Multiple cafe´-au-lait spots
- Multiple cafe´-au-lait syndrome
- Multiple cafe-au-lait spots
- Multiple café-au-lait spots
- Multiple carboxylase deficiency
- Multiple cartilaginous enchondroses
- Multiple congenital anomalies - hypotonia - seizures syndrome - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple congenital anomalies, mental retardation and progressive skeletal sclerosis
- Multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- Multiple contracture syndrome, Finnish type
- Multiple contracture syndrome, Israeli Bedouin type
- Multiple cutaneous and uterine leiomyomata
- Multiple cutaneous leiomyomata
- Multiple diaphyseal sclerosis
- Multiple dysmorphic features and pancytopenia
- Multiple enchondromatosis
- Multiple endocrine deficiency syndrome, type 2
- 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 (formerly)
- Multiple epiphyseal dysplasia
- Multiple epiphyseal dysplasia 1
- Multiple epiphyseal dysplasia 2
- Multiple epiphyseal dysplasia 3
- Multiple epiphyseal dysplasia 4
- Multiple epiphyseal dysplasia 5
- Multiple epiphyseal dysplasia 6
- Multiple epiphyseal dysplasia COMP-related
- Multiple epiphyseal dysplasia with bilayered patellae
- Multiple epiphyseal dysplasia with clubfoot
- Multiple epiphyseal dysplasia with double-layered patella
- Multiple epiphyseal dysplasia, autosomal recessive
- Multiple epiphyseal dysplasia, MATN3 related
- Multiple exostoses
- Multiple exostoses with spastic tetraparesis
- Multiple familial trichoepithelioma
- Multiple familial trichoepithelioma 1
- Multiple familial trichoepithelioma 2
- Multiple fibrofolliculoma familial
- Multiple hamartoma syndrome
- Multiple lentigines syndrome
- Multiple lipomatosis
- Multiple mastocytoma
- Multiple mitochondrial dysfunctions syndrome
- Multiple myeloma
- Multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects
- Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects
- Multiple ophthalmic anomalies and digital hypoplasia
- Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus
- Multiple osseous dysplasia, characteristic ear shape, and short stature
- Multiple pituitary hormone deficiencies, genetic forms
- Multiple pterygium syndrome
- Multiple pterygium syndrome Escobar type
- Multiple pterygium syndrome lethal type
- Multiple pterygium syndrome nonlethal type
- Multiple pterygium syndrome X-linked
- Multiple pterygium syndrome, Aslan type
- Multiple respiratory chain enzyme deficiencies
- Multiple sclerosis- not a rare disease.
- Multiple sclerosis, pediatric
- Multiple sclerosis-like disorder
- Multiple sebaceous cysts
- Multiple self healing squamous epithelioma
- Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk
- Multiple sulfatase deficiency
- Multiple symmetric lipomatosis
- Multiple synostoses syndrome 1
- Multiple synostoses syndrome 2
- Multiple system atrophy
- Multiple system tauopathy with presenile dementia
- Multiplex steatocystoma
- Multisynostotic osteodysgenesis with long bone fractures
- Multisystem inflammatory disease, neonatal-onset
- Multisystemic smooth muscle dysfunction syndrome
- Mulvihill-Smith syndrome
- Mumps
- Munchausen by proxy syndrome
- Munchausen syndrome by proxy
- Mungan syndrome
- MURCS association
- Murine typhus
- Murk Jansen type metaphyseal chondrodysplasia
- Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
- Muscle core disease
- Muscle eye brain disease
- Muscle glycogen phosphorylase deficiency
- Muscle glycogen synthase deficiency
- Muscle phosphofructokinase deficiency
- Muscle phosphoglycerate mutase deficiency
- Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities
- Muscle-eye-brain disease
- Muscle-liver-brain-eye nanism
- Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
- Muscular atrophy, infantile
- Muscular atrophy, juvenile
- Muscular atrophy, spinal, infantile chronic form
- Muscular atrophy, spinal, intermediate type
- Muscular central core disease
- Muscular dystrophy
- Muscular dystrophy Hutterite type
- Muscular dystrophy limb girdle type 2A, Erb type
- Muscular dystrophy limb-girdle type 2H
- Muscular dystrophy limb-girdle with alpha-sarcoglycan
- Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
- Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
- Muscular dystrophy pseudohypertrophic progressive, Becker type
- Muscular dystrophy white matter spongiosis
- Muscular dystrophy, Becker type
- Muscular dystrophy, benign congenital
- Muscular dystrophy, congenital progressive, with mental retardation
- MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
- Muscular dystrophy, congenital, due to ITGA7 deficiency
- Muscular dystrophy, congenital, Fukuyama type
- Muscular dystrophy, congenital, infantile with cataract and hypogonadism
- MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
- Muscular dystrophy, congenital, megaconial type
- Muscular dystrophy, congenital, merosin positive with early spine rigidity
- Muscular dystrophy, congenital, merosin-deficient
- Muscular dystrophy, congenital, merosin-positive
- Muscular dystrophy, congenital, with central nervous system involvement
- Muscular dystrophy, distal, late onset, autosomal recessive
- Muscular dystrophy, Duchenne
- Muscular dystrophy, Duchenne-like
- Muscular dystrophy, facioscapulohumeral
- Muscular dystrophy, facioscapulohumeral, type 1a
- Muscular dystrophy, limb-girdle, type 1F
- Muscular dystrophy, limb-girdle, type 1H
- Muscular dystrophy, limb-girdle, type 2G
- Muscular dystrophy, limb-girdle, type 2J
- Muscular dystrophy, limb-girdle, type 2L
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
- Muscular dystrophy, limb-girdle, type 2Q
- Muscular dystrophy, limb-girdle, type 2S
- Muscular dystrophy, limb-girdle, type 3
- Muscular dystrophy, limb-girdle, type IC
- Muscular dystrophy, oculogastrointestinal
- Muscular dystrophy, oculopharyngeal
- Muscular dystrophy, pelvofemoral
- Muscular dystrophy, proximal, type 1A
- Muscular dystrophy, proximal, type 1B
- Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
- Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
- Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
- Muscular fibrosis multifocal obstructed vessels
- Muscular phosphorylase kinase deficiency
- Musculocontractural EDS
- Musculocontractural Ehlers-Danlos syndrome
- Mutagen sensitivity
- Mutchinick syndrome
- Mutilating keratoderma
- MVA
- MVA syndrome
- MVP
- MWS
- Myalgic encephalomyelitis- not a rare disease.
- Myasthenia familial infantile
- Myasthenia gravis
- Myasthenia gravis congenital
- Myasthenia gravis familial infantile 2 (formerly)
- Myasthenia gravis pseudoparalytica
- Myasthenia gravis, limb-girdle
- Myasthenia, limb-girdle, autoimmune
- Myasthenic syndrome congenital associated with episodic apnea
- Myasthenic syndrome of Lambert-Eaton
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
- Myasthenic syndrome, congenital, postsynaptic slow-channel
- Myasthenic syndrome, congenital, slow-channel
- Myasthenic syndrome, congenital, type IIa
- Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea
- Myasthenic-Myopathic syndrome of Lambert-Eaton
- Mycetoma
- Mycobacterial disease, Mendelian susceptibility to
- Mycobacterium Abscessus
- Mycobacterium Abscessus infection
- Mycobacterium Avium
- Mycobacterium Avium Complex infections
- Mycobacterium Avium-Intracellulare
- Mycobacterium Avium-Intracellulare infection
- Mycobacterium Chelonae
- Mycobacterium Chelonae infection
- Mycobacterium fortuitum
- Mycobacterium Fortuitum infection
- Mycobacterium Gordonae
- Mycobacterium Gordonae infection
- Mycobacterium Kansasii
- Mycobacterium Kansasii infection
- Mycobacterium Malmoense
- Mycobacterium Malmoense infection
- Mycobacterium Marinum
- Mycobacterium Marinum infection
- Mycobacterium tuberculosis, susceptibility to infection by
- Mycobacterium Xenopi
- Mycobacterium Xenopi infection
- Mycoplasmal pneumonia
- Mycosis fungoides
- MYD88 deficiency
- Myelinosis centralis diffusa
- Myelitis
- Myelocerebellar disorder
- Myelocytic leukemia-like syndrome, familial, chronic
- myelodysplasia
- Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy
- Myelodysplastic Syndrome With Excess Blasts
- Myelodysplastic syndromes
- Myelodysplastic/myeloproliferative disease
- Myelodysplastic/myeloproliferative neoplasm
- Myelofibrosis
- Myeloid leukemia
- Myeloid leukemia
- Myeloid metaplasia
- Myeloid proliferations related to Down syndrome
- Myeloid sarcoma
- Myeloid splenomegaly
- Myeloma - multiple
- Myelomatosis
- Myelomeningocele
- Myeloperoxidase deficiency
- MYH7-related late-onset scapuloperoneal muscular dystrophy
- MYH7-related late-onset scapuloperoneal syndrome
- MYH7-related late-onset SPMD
- MYH7-related scapuloperoneal myopathy
- MYH9 related disorders
- MYH9 related thrombocytopenia
- MYH-associated polyposis
- Myhre syndrome
- MYMY
- Myoadenylate deaminase deficiency
- Myocardial calcifications resulting in intrauterine fetal death
- Myocardial tumors (rhabdomyomas and fibromas)
- Myocarditis
- Myoclonic astatic epilepsy
- Myoclonic dystonia
- Myoclonic epilepsy associated with ragged red fibers
- Myoclonic epilepsy of Lafora
- Myoclonic epilepsy of Unverricht and Lundborg
- Myoclonic epilepsy with choreoathetosis
- Myoclonic epilepsy with ragged red fibers
- Myoclonic epilepsy, juvenile, 1
- Myoclonic epilepsy, severe, of infancy
- Myoclonic nystagmus
- Myoclonus and ataxia
- Myoclonus cerebellar ataxia deafness
- Myoclonus cherry red spot syndrome
- Myoclonus epilepsy
- Myoclonus epilepsy partial seizure
- Myoclonus hereditary progressive distal muscular atrophy
- Myoclonus progressive epilepsy of Unverricht and Lundborg
- Myoclonus, hereditary essential
- Myoclonus-cerebellar ataxia-deafness syndrome
- Myoclonus-dystonia
- Myoclonus-dystonia syndrome
- Myodystrophia fetalis deformans
- Myoencephalopathy ragged-red fiber disease
- Myoepithelial carcinoma
- Myoepithelioma carcinoma
- Myofibrillar myopathy
- Myofibrillar myopathy with early respiratory failure
- Myofibrillar myopathy-titinopathy
- Myoglobinuria recurrent
- Myokymia with neonatal epilepsy
- Myoneurogastrointestinal encephalopathy syndrome
- Myopathic carnitine deficiency
- Myopathy congenital
- Myopathy distal, type 1
- Myopathy due to myoadenylate deaminase deficiency
- Myopathy due to phosphoglycerate mutase deficiency
- Myopathy with cataract and combined respiratory-chain deficiency
- Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
- Myopathy with extrapyramidal signs
- Myopathy with lactic acidosis and sideroblastic anemia
- Myopathy with lobulated fibers
- Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- Myopathy, benign congenital, with contractures
- Myopathy, central core
- Myopathy, central fibrillar
- Myopathy, Centronuclear, 1
- Myopathy, Centronuclear, 2
- Myopathy, centronuclear, autosomal recessive
- Myopathy, congenital nonprogressive with Moebius and Robin sequences
- Myopathy, congenital with fiber-type disproportion
- Myopathy, distal, 2
- Myopathy, lactic acidosis and sideroblastic anemia
- Myopathy, limb-girdle, with bone fragility
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
- Myopathy, proximal, with early respiratory muscle involvement
- Myopathy, tubular aggregate
- Myopathy, X-linked, with excessive autophagy
- Myopathy-Moebius-Robin syndrome
- Myophosphorylase deficiency
- Myopia 6
- Myopia retinal detachment encephalocele
- Myopia, susceptibility to
- Myopia-night blindness
- Myosin heavy chain diseases - Another name for Myosinopathies
- Myosin storage myopathy
- Myosinopathies
- Myositis
- Myositis ossificans progressiva
- Myostatin-related muscle hypertrophy
- Myotilinopathy (type)
- Myotonia atrophica
- Myotonia atrophica
- Myotonia congenita
- Myotonia congenita intermittens
- Myotonia congenita, acetazolamide-responsive
- Myotonia congenita, atypical
- Myotonia dystrophica
- Myotonia fluctuans
- Myotonia permanens
- Myotonia-intellectual disability-skeletal anomalies syndrome
- Myotonic chondrodystrophy
- Myotonic dystrophy
- Myotonic dystrophy type 1
- Myotonic dystrophy type 2
- Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
- Myotonic myopathy with cylindrical spirals
- Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
- Myotonic myopathy, proximal
- Myotubular Myopathy, Autosomal Dominant
- MYP6
- Myxoid liposarcoma
- Myxoid/round cell liposarcoma
- Myxoliposarcoma
- Myxoma - spotty pigmentation - endocrine overactivity
- Myxoma, spotty pigmentation, and endocrine overactivity
- Myxoma-spotty pigmentation-endocrine overactivity syndrome
- Myxomatous valvular disease, familial
- Myxomatous valvular dystrophy, X-linked
- Myxopapillary ependymoma
- Myxosporea
- Myxozoa
- MZL
NIH genetic and rare disease info[edit source]
List of rare diseases-M is a rare disease.
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Contributors: Prab R. Tumpati, MD