List of rare diseases-M

NIH genetic and rare disease info

• NIH info on List of rare diseases-M

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

• NIH info on List of rare diseases-M

List of rare diseases-M is a rare disease.