Browse A-Z

Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly. Read more about which diseases are included on the GARD website.

M hemoglobinopathy - See Methemoglobinemia, beta-globin type
M. Abscessus - See Mycobacterium Abscessus
M. Chelonae - See Mycobacterium Chelonae
M. Fortuitum - See Mycobacterium fortuitum
M. Gordonae - See Mycobacterium Gordonae
M. Kansasii - See Mycobacterium Kansasii
M. Malmoense - See Mycobacterium Malmoense
M. Marinum - See Mycobacterium Marinum
M. Xenopi - See Mycobacterium Xenopi
M/SCHAD - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
M-A - See Microtia-Anotia
MAA (formerly) - See Lenz microphthalmia syndrome
MAA2 (formerly) - See Oculofaciocardiodental syndrome
Mac Dermot Winter syndrome
Mac Duffie hypocomplementemic urticarial vasculitis - See Hypocomplementemic urticarial vasculitis
Mac Duffie syndrome - See Hypocomplementemic urticarial vasculitis
MAC spectrum - See Microphthalmia
Maccario Mena Weir syndrome - See Neuroaxonal dystrophy renal tubular acidosis
Macdermot-Winter syndrome - See Mac Dermot Winter syndrome
Machado-Joseph disease - See Spinocerebellar ataxia 3
Macias Flores-Garcia Cruz-Rivera syndrome - See X-linked congenital generalized hypertrichosis
Macias-Flores Garcia-Cruz Rivera syndrome - See X-linked congenital generalized hypertrichosis
MacKay Shek Carr syndrome - See Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
Macrencephaly - See Hemimegalencephaly
Macrocephalic sperm head syndrome - See Macrozoospermia
Macrocephaly cutis marmorata telangiectatica congenita - See Megalencephaly-capillary malformation syndrome
Macrocephaly mesodermal hamartoma spectrum
Macrocephaly multiple lipomas and hemangiomata - See Bannayan-Riley-Ruvalcaba syndrome
Macrocephaly pseudopapilledema and multiple hemangiomas - See Bannayan-Riley-Ruvalcaba syndrome
Macrocephaly short limbs deafness - See Bagatelle Cassidy syndrome
Macrocephaly, benign familial
Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia - See Fucosidosis type 1
Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay - See Bagatelle Cassidy syndrome
Macrocephaly-capillary malformation - See Megalencephaly-capillary malformation syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus) - See MOMO syndrome
Macrocystic lymphatic malformation - See Cystic hygroma
Macrodactyly of the foot
Macrodactyly of the hand
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
Macroepiphyseal dysplasia, McAlister Coe type - See Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
Macroglobulinemia of Waldenstrom - See Waldenstrom macroglobulinemia
Macroglossia
Macrogyria - See Pachygyria
Macrogyria, pseudobulbar palsy and mental retardation - See Kuzniecky Andermann syndrome
Macromastia - See Gigantomastia
Macrophage activation syndrome
Macrophagic myofasciitis
Macrophagic myofasciitis, childhood - See Macrophagic myofasciitis
Macrosomia microphthalmia cleft palate - See Macrosomia with lethal microphthalmia
Macrosomia with lethal microphthalmia
Macrosomia, obesity, macrocephaly, ocular abnormalities - See MOMO syndrome
Macrothrombocytopenia progressive deafness
Macrothrombocytopenia, familial Bernard-Soulier type - See Giant platelet syndrome
Macrozoospermia
Macular coloboma - See Coloboma of macula
Macular corneal dystrophy type 1 - See Macular dystrophy, corneal type 1
Macular degeneration - not a rare disease
Macular degeneration, polymorphic vitelline - See Best vitelliform macular dystrophy
Macular dystrophy retinal 1 North Carolina type - See North Carolina macular dystrophy
Macular dystrophy, atypical vitelliform
Macular dystrophy, butterfly-shaped pigmentary - See Patterned dystrophy of retinal pigment epithelium
Macular dystrophy, concentric annular
Macular dystrophy, corneal type 1
Macular dystrophy, hemorrhagic - See Fundus dystrophy, pseudoinflammatory, of Sorsby
Macular dystrophy, vitelliform, adult-onset - See Adult-onset vitelliform macular dystrophy
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 - See Macular dystrophy, concentric annular
MAD - See Metaphyseal anadysplasia
MAD - See Adrenomyodystrophy
MAD - See Mandibuloacral dysplasia
MADA - See Mandibuloacral dysplasia with type A lipodystrophy
MADB - See Mandibuloacral dysplasia with type B lipodystrophy
MADD - See Glutaric acidemia type II
Madelung deformity
Madelung disease - See Multiple symmetric lipomatosis
Madelung's disease - See Multiple symmetric lipomatosis
Madokoro Ohdo Sonoda syndrome
Madras motor neuron disease - not a rare disease
MADSAM - See Lewis-Sumner syndrome
Madura foot - See Mycetoma
Mae infertility due to round-headed spermatozoa - See Globozoospermia
Maeda syndrome - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Maffucci syndrome
Maghrebian myopathy - See Limb-girdle muscular dystrophy, type 2C
MAGIC syndrome
Magnesium loss, isolated renal - See Renal hypomagnesemia 2
Magnesium wasting, renal - See Renal hypomagnesemia 2
MAHCJ - See Methylmalonic acidemia with homocystinuria type cblJ
Mahvash disease
MAI - See Mycobacterium Avium Complex
Mainzer Saldino syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
MAIS - See Androgen insensitivity syndrome, mild
Majeed syndrome
Majewski osteodysplastic primordial dwarfism type II - See Microcephalic osteodysplastic primordial dwarfism type 2
Majewski syndrome - See Short rib-polydactyly syndrome type 2
Major affective disorder - See Bipolar disorder - not a rare disease
Major Aphthous Ulcer - See Sutton disease 2
Major Canker Sore - See Sutton disease 2
Major histocompatibility complex class 1 deficiency - See MHC class 1 deficiency
Mal de debarquement - See Mal de debarquement syndrome
Mal de debarquement syndrome
Mal de Meleda - See Meleda disease
Mal de Naxos - See Naxos disease
Mal del Pinto - See Pinta
Malacoplakia - See Malakoplakia
Malakoplakia
Malaria
Malayi tropical eosinphilia - See Lymphatic filariasis
Male breast cancer - See Breast cancer, male
Male breast carcinoma - See Breast cancer, male
Male hypergonadotropic hypogonadism due to LHCGR defect - See Leydig cell hypoplasia
Male infertility due to globozoospermia - See Globozoospermia
Male infertility due to large-headed multiflagellar polyploid spermatozoa - See Macrozoospermia
Male infertility due to macrozoospermia - See Macrozoospermia
Male infertility due to round-headed spermatozoa - See Globozoospermia
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA - See Macrozoospermia
Male infertility with spermatogenesis disorder - not a rare disease
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 - See 5-alpha reductase deficiency
Male pseudohermaphroditism due to defective LH molecule
Male pseudohermaphroditism due to LH resistance or LHB deficiency - See Leydig cell hypoplasia
Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency - See Leydig cell hypoplasia
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Male pseudoherma-phroditism with gynecomastia - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
Male sterility due to Y-chromosome deletions - See Y chromosome infertility
Male Turner Syndrome - See Noonan syndrome
Malignant acrospiroma - See Hidradenocarcinoma
Malignant atrophic papulosis - See Degos disease
Malignant clear cell acrospiroma - See Hidradenocarcinoma
Malignant cylindroma
Malignant eccrine poroma - See Eccrine porocarcinoma
Malignant eccrine spiradenoma
Malignant ectomesenchymoma
Malignant edema - See Anthrax
Malignant fibrohistiocytic tumors - See Undifferentiated pleomorphic sarcoma
Malignant fibrous histiocytoma - See Undifferentiated pleomorphic sarcoma
Malignant germ cell tumor
Malignant hyperpyrexia - See Malignant hyperthermia
Malignant hyperpyrexia susceptibility type 2 - See Malignant hyperthermia susceptibility type 2
Malignant hyperpyrexia susceptibility type 3 - See Malignant hyperthermia susceptibility type 3
Malignant hyperpyrexia susceptibility type 4 - See Malignant hyperthermia susceptibility type 4
Malignant hyperpyrexia susceptibility type 5 - See Malignant hyperthermia susceptibility type 5
Malignant hyperpyrexia susceptibility type 6 - See Malignant hyperthermia susceptibility type 6
Malignant hyperthermia
Malignant hyperthermia - arthrogryposis - torticollis - See 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 - See Somatostatinoma
Malignant Langerhans cell sarcoma - See Langerhans cell sarcoma
Malignant melanoma of the gastrointestinal tract - See Digestive System Melanoma
Malignant melanoma, childhood
Malignant mesenchymal tumor - See Malignant mesenchymoma
Malignant mesenchymoma
Malignant mesothelioma
Malignant migrating partial epilepsy of infancy - See Malignant migrating partial seizures of infancy
Malignant migrating partial seizures of infancy
Malignant mixed Mullerian tumor
Malignant mixed müllerian tumor of corpus uteri - See Uterine Carcinosarcoma
Malignant mixed Müllerian tumor of the corpus uteri - See Uterine Carcinosarcoma
Malignant mixed mullerian tumor of the ovary - See Ovarian carcinosarcoma
Malignant mixed Müllerian tumor of the ovary - See Ovarian carcinosarcoma
Malignant myoepithelioma - See Myoepithelial carcinoma
Malignant neoplasms of the small intestine - See Small intestine cancer
Malignant neurilemmoma - See Malignant peripheral nerve sheath tumor
Malignant neurofibroma - See Malignant peripheral nerve sheath tumor
Malignant nodular/clear cell hidradenoma - See Hidradenocarcinoma
Malignant paroxysmal ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
Malignant peripheral nerve sheath tumor
Malignant phyllodes tumor of prostate (subtype) - See Phyllodes tumor of the prostate
Malignant pustule - See Anthrax
Malignant rhabdoid tumor - See Rhabdoid tumor
Malignant schwannoma - See Malignant peripheral nerve sheath tumor
Malignant Teratocarcinosarcoma
Malignant tumors of the central nervous system associated with familial polyposis of the colon - See Turcot syndrome
Malignant variant of Abrikosov's tumor - See Granular cell tumor
Mallory-Weiss laceration - See Mallory-Weiss syndrome
Mallory-Weiss syndrome
Mallory-Weiss tear - See Mallory-Weiss syndrome
Malonic acidemia - See Malonyl-CoA decarboxylase deficiency
Malonic aciduria - See Malonyl-CoA decarboxylase deficiency
Malonicaciduria - See Malonyl-CoA decarboxylase deficiency
Malonyl-CoA decarboxylase deficiency
Malouf syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
Malpuech-Michels-Mingarelli-Carnevale syndrome - See 3MC syndrome
MALS - See Celiac artery compression syndrome
Malta fever - See Brucellosis
Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies - See Limb-mammary syndrome
Mammary Paget's disease - See Paget disease of the breast
Mammary pseudoangiomatous stromal hyperplasia - See Pseudoangiomatous stromal hyperplasia - not a rare disease
MAN1B1-CDG
Man5GlcNAc2-PP-Dol flippase deficiency - See RFT1-CDG (CDG-In)
Mandibular hypoplasia, deafness, progeroid features - See MDP syndrome
Mandibuloacral dysplasia - See Adrenomyodystrophy
Mandibuloacral dysplasia
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis - See Treacher Collins syndrome
Mandibulofacial dysostosis Toriello type - See Branchial arch syndrome X-linked
Mandibulofacial dysostosis with microcephaly
Mandibulofacial dysostosis, Guion-Almeida type - See Mandibulofacial dysostosis with microcephaly
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - See Treacher Collins syndrome 3
Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies - See Nager acrofacial dysostosis
Mandibulofacial dysostosis-microcephaly syndrome - See Mandibulofacial dysostosis with microcephaly
Manic depression - See Bipolar disorder - not a rare disease
Manic-depressive psychosis - See Bipolar disorder - not a rare disease
Manitoba oculotrichoanal syndrome
Manitoba Trichoanal syndrome - See Manitoba oculotrichoanal syndrome
Mannose-binding lectin protein deficiency - not a rare disease
Mannose-binding protein deficiency - See Mannose-binding lectin protein deficiency - not a rare disease
Mannosephosphate isomerase deficiency - See MPI-CDG (CDG-Ib)
Mannosidosis, alpha B lysosomal - See Alpha-mannosidosis
Mannosidosis, beta A, lysosomal
Mannosyltransferase 1 deficiency - See ALG1-CDG (CDG-Ik)
Mannosyltransferase 2 deficiency - See ALG2-CDG (CDG-Ii)
Mannosyltransferase 6 deficiency - See ALG3-CDG (CDG-Id)
Mannosyltransferase 7-9 deficiency - See ALG9-CDG (CDG-IL)
Mannosyltransferase 8 deficiency - See ALG12-CDG (CDG-Ig)
Manouvrier syndrome
Mansonella perstans - See Acanthocheilonemiasis
Mansonella perstans infections - See Mansonelliasis
Mansonelliasis
Mansonellosis - See Mansonelliasis
Mantle cell lymphoma
MAP syndrome - See MYH-associated polyposis
Map-dot-fingerprint dystrophy of cornea - See Epithelial basement membrane corneal dystrophy
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 - See Dihydrolipoamide dehydrogenase deficiency
MAR - See 5q- syndrome
Marble bone disease - See Osteopetrosis
Marble bones - See Osteopetrosis
Marble bones autosomal recessive - See Osteopetrosis autosomal recessive 1
Marble brain disease - See Osteopetrosis autosomal recessive 3
Marburg disease - See Marburg hemorrhagic fever
Marburg hemorrhagic fever
Marburg variant - See Tumefactive multiple sclerosis
Marburg virus disease - See Marburg hemorrhagic fever
Marchiafava Bignami disease
Marchiafava-Micheli disease - See Paroxysmal nocturnal hemoglobinuria
Marcus Gunn phenomenon
Marcus Gunn syndrome - See Marcus Gunn phenomenon
Marden Walker like syndrome
Marden Walker like syndrome without psychomotor retardation - See Marden Walker like syndrome
Marden-Walker syndrome
Marek disease
Marek's Disease - See Marek disease
Marfan syndrome
Marfanoid craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
Marfanoid disorder with craniosynostosis type 1 - See Shprintzen-Goldberg craniosynostosis syndrome
Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies - See Lujan syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marfanoid hypermobility syndrome
Marfanoid-craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
Marginal alopecia - See Alopecia areata - not a rare disease
Marginal glioneuronal heterotopia
Marginal zone lymphoma
Mari type Alopecia universalis congenita - See Total Hypotrichosis, Mari type
Marie Unna congenital hypotrichosis
Marie Unna hereditary hypotrichosis - See Marie Unna congenital hypotrichosis
Marie-Sainton disease - See Cleidocranial dysplasia
Marie-Strumpell spondylitis - See Ankylosing spondylitis - not a rare disease
Marinesco-Garland Syndrome - See Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism - See Marinesco-Sjogren syndrome
Marinesco-Sjogren Syndrome-Myopathy - See Marinesco-Sjogren syndrome
Marinesco-Sjogren-Garland Syndrome - See Marinesco-Sjogren syndrome
Marinesco-Sjogren-like syndrome (MSLS)
Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins - See Gray platelet syndrome
Markel Vikkula Mulliken syndrome
Marker X syndrome - See Fragile X syndrome
Marles syndrome - See Manitoba oculotrichoanal syndrome
Marles-Greenberg-Persaud syndrome - See Manitoba oculotrichoanal syndrome
Maroteaux Fonfria syndrome
Maroteaux Lamy syndrome - See Mucopolysaccharidosis type VI
Maroteaux Le Merrer Bensahel syndrome - See Carpotarsal osteochondromatosis
Maroteaux Stanescu Cousin syndrome
Maroteaux Verloes Stanescu syndrome - See Metaphyseal anadysplasia
Maroteaux-Malamut syndrome - See Acrodysostosis
Marphanoid syndrome type De Silva
Marrow hypoplasia associated with congenital neurologic anomalies - See Drachtman Weinblatt Sitarz syndrome
Marsden Nyhan Sakati syndrome
Marsden syndrome - See Leber hereditary optic neuropathy with dystonia
Marshall syndrome
Marshall Syndrome - See Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Marshall-Smith syndrome
Martin-Bell syndrome - See Fragile X syndrome
Martinez Monasterio Pinheiro syndrome
Martsolf syndrome
MAS - See Meconium aspiration syndrome
MAS - See McCune-Albright syndrome
MASA syndrome - See Spastic paraplegia 1
Mason type diabetes - See Maturity-onset diabetes of the young
MASS phenotype
MASS syndrome - See MASS phenotype
Massa Casaer Ceulemans syndrome
Massive macronodular adrenocortical disease - See ACTH-independent macronodular adrenal hyperplasia
Masson's pseudoangiosarcoma - See Intravascular papillary endothelial hyperplasia
Masson's tumor - See Intravascular papillary endothelial hyperplasia
Masson's vegetant intravascular hemangio-endothelioma - See Intravascular papillary endothelial hyperplasia
Mast cell activation syndrome
Mast cell disease - See Mastocytosis
Mastocytic enterocolitis
Mastocytoma - See Cutaneous mastocytosis
Mastocytosis
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
Mastroiacovo De Rosa Satta syndrome
Mastroiacovo Gambi Segni syndrome
MAT deficiency - See Methionine adenosyltransferase deficiency
Maternal hyperphenylalaninemia
Maternal phenylketonuria - See Maternal hyperphenylalaninemia
Maternal uniparental disomy of chromosome 14 - See Temple syndrome
Maternally inherited diabetes and deafness
Maternally inherited Leigh syndrome - See Mitochondrial DNA-associated Leigh syndrome
Maternofetal infection by parvovirus - See Parvovirus antenatal infection
Mathieu-De Broca-Bony syndrome - See Cleft palate short stature vertebral anomalies
Matsoukas Liarikos Giannika syndrome
Matthew Wood syndrome - See Microphthalmia syndromic 9
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 1 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 2 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 3 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 4 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 6 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 7 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 8 - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 8, with exocrine dysfunction - See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 9 - See Maturity-onset diabetes of the young
Maumenee corneal dystrophy - See Corneal endothelial dystrophy type 2
Maumenee syndrome
Maxillary double lip
Maxillofacial dysostosis
Maxillonasal dysplasia, Binder type
Maxillopalpebral synkinesis - See Marcus Gunn phenomenon
May Thurner syndrome - See May-Thurner syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) - See Mullerian aplasia
May-Hegglin anomaly - See MYH9 related thrombocytopenia
May-Thurner syndrome
MBA - See Migraine with brainstem aura
MBD - See Marchiafava Bignami disease
MBD25–related intellectual disability
MBD5 Haploinsufficiency - See MBD25–related intellectual disability
MBL deficiency - See Mannose-binding lectin protein deficiency - not a rare disease
MBS - See Moebius syndrome
MBS2 (formerly) - See Hereditary congenital facial paresis
MCA due to 14q32.2 maternally expressed gene defect - See Paternal uniparental disomy of chromosome 14
MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia - See Nguyen syndrome
MCAD deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADD - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADH deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
MCAHS type 2 - See Multiple congenital anomalies-hypotonia-seizures syndrome type 2
MCAHS1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
MCAHS2 - See Multiple congenital anomalies-hypotonia-seizures syndrome type 2
McAlister Coe Whyte syndrome - See Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
McArdle disease - See Glycogen storage disease type 5
McArdle type glycogen storage disease - See Glycogen storage disease type 5
MCAS - See Mast cell activation syndrome
MCC 1 deficiency - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
MCC 2 deficiency - See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
MCC deficiency - See 3-methylcrotonyl-CoA carboxylase deficiency
Mccabe disease - See Polyostotic osteolytic dysplasia, hereditary expansile
McCallum Macadam Johnston syndrome
MCCD - See 3-methylcrotonyl-CoA carboxylase deficiency
MCCPT1 - See Carnitine palmitoyltransferase I deficiency , muscle
McCune Albright syndrome - See McCune-Albright syndrome
McCune-Albright syndrome
MCD - See Multiple carboxylase deficiency
MCD - See Multicentric Castleman Disease
MCD deficiency - See Malonyl-CoA decarboxylase deficiency
MCDC1 - See Macular dystrophy, corneal type 1
MCDCA - See Macular dystrophy, concentric annular
McDonough syndrome
McDowall syndrome
MCDR1 - See North Carolina macular dystrophy
MCDS - See Metaphyseal chondrodysplasia Schmid type
MCDS - See Metaphyseal chondrodysplasia Spahr type
McDuffie hypocomplementemic urticarial vasculitis - See Hypocomplementemic urticarial vasculitis
McDuffie syndrome - See Hypocomplementemic urticarial vasculitis
mcEDS - See Musculocontractural Ehlers-Danlos syndrome
McGillivray syndrome
Mcgrath syndrome - See Ectodermal dysplasia skin fragility syndrome
MCKAT deficiency - See Medium-chain 3-ketoacyl-coa thiolase deficiency
MCKD - See Autosomal dominant tubulointerstitial kidney disease
MCKD1 - See Mucin-1 kidney disease
MCKD2 - See Uromodulin kidney disease
McKusick Kaufman syndrome
MCL - See Hereditary leiomyomatosis and renal cell cancer
McLeod neuroacanthocytosis syndrome
McLeod syndrome - See McLeod neuroacanthocytosis syndrome
M-CM - See Megalencephaly-capillary malformation syndrome
MCM Deficiency - See Methylmalonyl-Coenzyme A mutase deficiency
M-CMTC - See Megalencephaly-capillary malformation syndrome
MCNS - See Minimal change disease
MCOPS1 - See Lenz microphthalmia syndrome
MCOPS10 - See Microphthalmia syndromic 10
MCOPS2 - See Oculofaciocardiodental syndrome
MCOPS3 - See Syndromic microphthalmia, type 3
MCOPS4 - See Microphthalmia syndromic 4
MCOPS5 - See Microphthalmia syndromic 5
MCOPS6 - See Microphthalmia syndromic 6
MCOPS7 - See Microphthalmia with linear skin defects syndrome
MCOPS8 - See Microphthalmia syndromic 8
MCOPS9 - See Microphthalmia syndromic 9
MCOR - See Congenital microcoria
MCPH - See Autosomal recessive primary microcephaly
MCPHA - See Amish lethal microcephaly
McPherson Clemens syndrome
McPherson Robertson Cammarano syndrome
MCSZ - See Early Infantile Epileptic Encephalopathy
MCTD - See Mixed connective tissue disease
MCUL - See Hereditary leiomyomatosis and renal cell cancer
MDB - See Medulloblastoma
MDC - See Congenital muscular dystrophy
MDC1A - See Congenital muscular dystrophy type 1A
MDCL - See Congenital muscular dystrophy
MDDGA - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
MdDS - See Mal de debarquement syndrome
MDEBS - See Epidermolysa bullosa simplex with muscular dystrophy
MD-EBS - See Epidermolysa bullosa simplex with muscular dystrophy
MDK - See Mesomelic dysplasia Kantaputra type
MDLS - See Miller-Dieker syndrome
MDM - See Meleda disease
MDP syndrome
MDR3 deficiency - See Progressive familial intrahepatic cholestasis type 3
MDRS1 - See Rigid spine syndrome
MDS - See Myelodysplastic syndromes
Meacham Winn Culler syndrome
Meadows' syndrome - See Peripartum cardiomyopathy
Measles
MEB - See Muscle eye brain disease
Meckel Gruber syndrome - See Meckel syndrome
Meckel syndrome
Meckel syndrome 7 - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Meckel syndrome type 2
Meckel syndrome type 3
Meckel syndrome type 7 - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Meckel-like syndrome type 1 - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Meconium aspiration syndrome
MECP2 duplication syndrome
MED - See Multiple epiphyseal dysplasia
MED13L haploinsufficiency syndrome
MED13L syndrome - See MED13L haploinsufficiency syndrome
MED23
Medeira-Dennis-Donnai syndrome
Medial confluence of the breasts - See Symmastia
Medial Medullary Syndrome
Median arcuate ligament syndrome - See Celiac artery compression syndrome
Median cleft face syndrome - See Frontonasal dysplasia
Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome - See Median cleft of upper lip with polyps of facial skin and nasal mucosa
Median cleft of upper lip with polyps of facial skin and nasal mucosa
Median cleft syndrome - See Frontonasal dysplasia
Median cleft upper lip, mental retardation and pugilistic facies - See Pallister W syndrome
Median facial cleft syndrome - See Frontonasal dysplasia
Median fissure of nose - See Bifid nose
Median nodule of the upper lip
Mediastinal endodermal sinus tumors
Mediastinal fibrosis - See Fibrosing mediastinitis
Mediastinal fibrosis, familial - See Multifocal fibrosclerosis
Medication-induced gigantomastia (subtype) - See Gigantomastia
MED-IDDM syndrome - See Epiphyseal dysplasia multiple with early-onset diabetes mellitus
Mediterranean anemia - See Beta-thalassemia
Mediterranean Kaposi sarcoma - See Kaposi sarcoma
Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
Medium chain acyl CoA dehydrogenase deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain 3-ketoacyl-coa thiolase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medrano Roldan syndrome
Medullary cystic kidney disease 1 - See Mucin-1 kidney disease
Medullary cystic kidney disease 2 - See Uromodulin kidney disease
Medullary cystic kidney disease 2, autosomal dominant - See Uromodulin kidney disease
Medullary cystic kidney disease type 1 - See Mucin-1 kidney disease
Medullary sponge kidney
Medullary thyroid cancer (MTC) - See Thyroid cancer, medullary
Medulloblastoma
Medulloblastoma, childhood
Meesman dystrophy - See Meesmann corneal dystrophy
Meesmann corneal dystrophy
Meesmann corneal epithelial dystrophy - See Meesmann corneal dystrophy
Mega cisterna magna (type of DW complex) - See Dandy-Walker complex
Megaconial congenital muscular dystrophy - See Muscular dystrophy, congenital, megaconial type
Megaconial congénital muscular dystrophy - See Muscular dystrophy, congenital, megaconial type
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum and/or megacystis
Megaepiphyseal dwarfism
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megalencephaly cutis marmorata telangiectatica congenita - See Megalencephaly-capillary malformation syndrome
Megalencephaly in infancy accompanied by progressive spasticity and dementia - See Alexander disease
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megalencephaly-capillary malformation syndrome
Megalencephaly-cystic leukodystrophy - See Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megaloblastic anemia 1 - See Imerslund-Grasbeck syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness - See Thiamine responsive megaloblastic anemia syndrome
Megalocephaly cutis marmorata telangiectatica congenita - See Megalencephaly-capillary malformation syndrome
Megalocornea - See Isolated congenital megalocornea
Megalocornea - spherophakia - secondary glaucoma
Megalocornea mental retardation syndrome - See Megalocornea-intellectual disability syndrome
Megalocornea, multiple skeletal anomalies, and developmental delay - See Frank Ter Haar syndrome
Megalocornea-intellectual disability syndrome
Megalocytic interstitial nephritis
Megalodactylism of the foot - See Macrodactyly of the foot
Megalodactylism of the hand - See Macrodactyly of the hand
Megalodactyly of the foot - See Macrodactyly of the foot
Megalodactyly of the hand - See Macrodactyly of the hand
Megarbane Jalkh syndrome
Megarbane syndrome
MEGDEL syndrome
Mehes syndrome
MEHMO - See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
MEHMO syndrome - See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
Mehta Lewis Patton syndrome
Mehtylmalonic acidemia with homocystinuria cbI d - See Methylmalonic acidemia with homocystinuria type cblD
Meier Blumberg Imahorn syndrome
Meier-Gorlin syndrome
Meige disease - See Hereditary lymphedema type II
Meige dystonia - See Meige syndrome
Meige lymphedema - See Hereditary lymphedema type II
Meige syndrome
Meigel disease
Meige's syndrome - See Meige syndrome
Meinecke syndrome
MEIS2 haploinsufficiency - See Cleft palate, cardiac defects, and intellectual disability
MEIS2 mutations - See Cleft palate, cardiac defects, and intellectual disability
Melanocytic lesions of CNS
Melanoma and neural system tumor syndrome - See Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome
Melanoma of the gastrointestinal tract - See Digestive System Melanoma
Melanoma of the GI tract - See Digestive System Melanoma
Melanoma of the Uvea - See Intraocular melanoma
Melanoma, familial
Melanoma-associated retinopathy
Melanoma-pancreatic cancer syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
Melanosis, neurocutaneous - See Neurocutaneous melanosis
MELAS - See Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MELAS syndrome - See Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Meleda disease
MELF - See Lafora disease
Melhem Fahl syndrome
Melioidosis
Melkersson syndrome - See Melkersson-Rosenthal syndrome
Melkersson-Rosenthal syndrome
Melnick-Fraser syndrome - See Branchiootorenal syndrome
Melnick-Needles osteodysplasty - See Melnick-Needles syndrome
Melnick-Needles syndrome
Melorheostosis
Melorheostosis with osteopoikilosis
Meltzer syndrome - See Familial mixed cryoglobulinemia
Membranoproliferative glomerulonephritis
Membranoproliferative glomerulonephritis type 2 - See Dense deposit disease
Membranoproliferative glomerulonephritis type II - See Dense deposit disease
Membranous glomerulonephritis - See Membranous nephropathy
Membranous GN - See Membranous nephropathy
Membranous nephropathy
Membranous obstruction of the inferior vena cava - See Budd-Chiari syndrome
Memory loss, extreme sexual behavior, placidity, and visual distractibility - See Kluver Bucy syndrome
MEN 1 - See Multiple endocrine neoplasia type 1
MEN 2A - See Multiple endocrine neoplasia type 2A
MEN 2B - See Multiple endocrine neoplasia type 2B
MEN1 - See Multiple endocrine neoplasia type 1
MEN2 - See Multiple endocrine neoplasia type 2
MEN-2A syndrome - See Multiple endocrine neoplasia type 2A
Mende Syndrome - See Waardenburg syndrome
Mendelian susceptibility to atypical mycobacteria - See Mendelian susceptibility to mycobacterial diseases
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency - See IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases
Mendelian susceptibility to mycobacterial diseases - See Mendelian susceptibility to mycobacterial diseases
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - See IL12RB1 deficiency
Mendelian susceptibility to mycobacterial infections - See Mendelian susceptibility to mycobacterial diseases
Mendelian susceptibility to mycobacterial infections due to IL12 deficiency - See IL12RB1 deficiency
Mendenhall Syndrome - See Rabson-Mendenhall syndrome
Menetrier disease
Mengel-Konigsmark syndrome - See Conductive deafness with malformed external ear
Meniere disease - See Ménière's disease - not a rare disease
Meniere's disease - See Ménière's disease - not a rare disease
Ménière's disease - not a rare disease
Meningeal capillary angiomatosis - See Sturge-Weber syndrome
Meningeal syphilis - See Syphilitic aseptic meningitis
Meningioma
Meningioma, spine - See Spinal meningioma
Meningitis, bacterial - See Bacterial meningitis
Meningitis, neonatal - See Neonatal meningitis
Meningitis, syphilitic - See Syphilitic aseptic meningitis
Meningocele
Meningococcal disease - See Neisseria meningitidis infection
Meningococcal infection
Meningococcemia
Meningoencephalitis caused by Naegleria fowleri - See Primary amebic meningoencephalitis
Meningoencephalocele
Meningoencephalocele, arthrogryposis and hypoplastic thumbs - See Podder-Tolmie syndrome
Meningomyelocele - See Myelomeningocele
Menkea syndrome - See Menkes disease
Menkes disease
Menkes syndrome - See Menkes disease
Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity - See Van Den Bosch syndrome
Mental deficiency, epilepsy and endocrine disorders - See Borjeson-Forssman-Lehmann syndrome
Mental retardation , X-linked with seizures, short stature and midface hypoplasia - See X-linked creatine deficiency
Mental retardation , X-linked, with creatine transport deficiency - See X-linked creatine deficiency
Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA) - See Spastic paraplegia 1
Mental retardation Buenos Aires type - See Intellectual deficit Buenos-Aires type
Mental retardation macrocephaly coarse facies hypotonia
Mental retardation psychosis macroorchidism - See PPM-X syndrome
Mental retardation short stature hypertelorism - See Intellectual deficit - short stature - hypertelorism
Mental retardation short stature microcephaly eye
Mental retardation skeletal dysplasia abducens palsy
Mental retardation Smith Fineman Myers type
Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies - See Temtamy preaxial brachydactyly syndrome
Mental retardation syndrome, Mietens Weber type - See Mietens-Weber syndrome
Mental retardation with optic atrophy, deafness, and seizures - See Severe X-linked intellectual disability, Gustavson type
Mental retardation with osteocartilaginous abnormalities - See Coffin-Lowry syndrome
Mental retardation with psychosis, pyramidal signs, and macroorchidism - See PPM-X syndrome
Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis - See Fitzsimmons syndrome
Mental retardation X-linked severe Gustavson type - See Severe X-linked intellectual disability, Gustavson type
Mental retardation X-linked Shashi type - See Mental retardation X-linked syndromic 11
Mental retardation X-linked Siderius type - See X-linked intellectual disability, Siderius type
Mental retardation X-linked syndromic 11
Mental retardation X-linked syndromic 5 - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
Mental retardation X-linked syndromic 7
Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
Mental retardation X-linked, Tranebjaerg type seizures and psoriasis - See Tranebjaerg Svejgaard syndrome
Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose - See Pseudoprogeria syndrome
Mental retardation, autosomal dominant 20 - See 5q14.3 microdeletion syndrome
Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure - See Lowry Maclean syndrome
Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency - See Epilepsy telangiectasia
Mental retardation, epilepsy, short stature and skeletal dysplasia - See Gurrieri syndrome
MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH - See MGAT2-CDG (CDG-IIa)
Mental retardation, hypotonicity, incontinence, muscle atrophy, and inability to walk or speak - See Passos-Bueno syndrome
Mental retardation, keratoconus, febrile seizures, and sinoatrial block
Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum - See FG syndrome
Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia - See N syndrome
Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease - See Mowat-Wilson syndrome
Mental retardation, microcephaly, epilepsy, and coarse face - See Battaglia-Neri syndrome
Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate - See Weaver Williams syndrome
Mental retardation, obesity, hypogonadism, and tapering fingers - See Mental retardation X-linked syndromic 7
Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect - See McDonough syndrome
Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair - See Kozlowski-Krajewska syndrome
Mental retardation, tall stature, obesity, macrocephaly and typical facial features - See Clark-Baraitser syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis - See MORM syndrome
Mental retardation, X-linked 14
Mental retardation, X-linked nonspecific, type 14 - See Mental retardation, X-linked 14
Mental retardation, X-linked Renpenning type - See Renpenning syndrome 1
Mental retardation, X-linked, Hyde-Forster type - See X-linked intellectual disability-plagiocephaly syndrome
Mental retardation, X-linked, Lubs type (formerly) - See MECP2 duplication syndrome
Mental retardation, X-linked, syndromic 13 - See PPM-X syndrome
Mental retardation, X-linked, syndromic 2 - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 - See Graham-Cox syndrome
Mental retardation, X-linked, syndromic 6 (formerly) - See Wilson-Turner syndrome
Mental retardation, X-linked, syndromic 8 - See Renpenning syndrome 1
Mental retardation, X-linked, with craniofacial dysmorphism - See X-linked intellectual disability-plagiocephaly syndrome
Mental retardation, X-linked, with gynecomastia and obesity (formerly) - See Wilson-Turner syndrome
Menzel type OPCA - See Spinocerebellar ataxia 1
MEPAN syndrome
Meralgia paraesthetica familial (type) - See Meralgia paresthetica
Meralgia paresthetica
Mercury poisoning
Mercury toxicity - See Mercury poisoning
Merkel cell cancer - See Merkel cell carcinoma
Merkel cell carcinoma
Merkle tumors - See Merkel cell carcinoma
Merlob Grunebaum Reisner syndrome
Mermaid malformation - See Sirenomelia
Mermaid syndrome - See Sirenomelia
Merosin-deficient congenital muscular dystrophy - See Congenital muscular dystrophy type 1A
Merosin-negative congenital muscular dystrophy - See Congenital muscular dystrophy type 1A
MERRF - See Myoclonic epilepsy with ragged red fibers
Merrf syndrome - See Myoclonic epilepsy with ragged red fibers
Merten-Singleton syndrome - See Singleton-Merten syndrome
MES - See Malignant eccrine spiradenoma
Mesangial proliferative glomerulonephritis
Mesangial proliferative GN - See Mesangial proliferative glomerulonephritis
Mesangial sclerosis, diffuse - See Diffuse mesangial sclerosis
Mesangiocapillary glomerulonephritis - See Membranoproliferative glomerulonephritis
Mesangiocapillary glomerulonephritis type 2 - See Dense deposit disease
Mesangioproliferative glomerulonephritis - See Mesangial proliferative glomerulonephritis
Mesangioproliferative glomerulopathy
Mesenteric fibromatosis - See Sclerosing mesenteritis
Mesenteric lipodystrophy - See Sclerosing mesenteritis
Mesenteric lipogranuloma - See Sclerosing mesenteritis
Mesenteric panniculitis - See Sclerosing mesenteritis
Mesiodens cataract syndrome - See Nance-Horan syndrome
Mesodermal dysmorphodystrophy congenital - See Weill-Marchesani syndrome
Mesoectodermal dysplasia - See Ellis-Van Creveld syndrome
Mesomelia
Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation - See Ulna hypoplasia-intellectual disability syndrome
Mesomelia synostoses - See Mesomelia-synostoses syndrome
Mesomelia-synostoses syndrome
Mesomelic dwarfism Campailla-Martinelli type - See Acromesomelic dysplasia Campailla Martinelli type
Mesomelic dwarfism cleft palate camptodactyly
Mesomelic dwarfism Nievergelt type - See Nievergelt syndrome
Mesomelic dwarfism of hypoplastic tibia and radius type
Mesomelic dwarfism of hypoplastic ulna and fibula type - See Ulna and fibula, hypoplasia of
Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type - See Langer mesomelic dysplasia
Mesomelic dysplasia Kantaputra type
Mesomelic dysplasia Reinhardt-Pfeiffer type - See Ulna and fibula, hypoplasia of
Mesomelic dysplasia Savarirayan type
Mesomelic dysplasia skin dimples
Mesomelic dysplasia Thai type - See Mesomelic dysplasia Kantaputra type
Mesomelic dysplasia with absent fibulas and triangular tibias - See Mesomelic dysplasia Savarirayan type
Mesomelic dysplasia with ankle carpal and tarsal synostosis - See Mesomelic dysplasia Kantaputra type
Mesomelic limb shortening and bowing - See Mesomelic dwarfism cleft palate camptodactyly
Mesomelic shortening and hereditary nephritis - See Dyschondrosteosis nephritis
Mesothelioma, malignant - See Malignant mesothelioma
MesPGN - See Mesangioproliferative glomerulopathy
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness - See Mitochondrial myopathy with lactic acidosis
Metabolic syndrome X - See Abdominal obesity metabolic syndrome
Metacarpals 4 and 5 fusion
Metachondromatosis
Metachromatic leukodystrophy
Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency - See Metachromatic leukodystrophy due to saposin B deficiency
Metachromatic leukodystrophy due to saposin B deficiency
Metachromatic leukoencephalopathy - See Metachromatic leukodystrophy
Metageria - See Acrogeria, Gottron type
Metagonimiasis
Metagonimus yokogawai infection - See Metagonimiasis
Metaphyseal acroscyphodysplasia
Metaphyseal anadysplasia
Metaphyseal and epiphyseal dysplasia with unusual facies and cataract - See Kozlowski Rafinski Klicharska syndrome
Metaphyseal chondrodysplasia McKusick type - See Cartilage-hair hypoplasia
Metaphyseal chondrodysplasia Murk Jansen type - See Jansen type metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia - See Trichoscyphodysplasia
Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
Metaphyseal chondrodysplasia with ectodermal dysplasia - See Trichoscyphodysplasia
Metaphyseal chondrodysplasia, others
Metaphyseal chondroplasia Rosenberg type - See Ulna metaphyseal dysplasia syndrome
Metaphyseal dysostosis, conductive hearing loss and mental retardation (formerly) - See Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia - See Pyle disease
Metaphyseal dysplasia hypertelorism hypospadias - See Say Carpenter syndrome
Metaphyseal dysplasia maxillary hypoplasia brachydactyly
Metaphyseal dysplasia Pyle type - See Pyle disease
Metaphyseal dysplasia without hypotrichosis
Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia - See Roy Maroteaux Kremp syndrome
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Metaplastic breast cancer - See Metaplastic carcinoma of the breast
Metaplastic carcinoma of the breast
Metastatic dermatofibrosarcoma protuberans (subtype) - See Dermatofibrosarcoma protuberans
Metastatic insulinoma
Metastatic squamous neck cancer with occult primary
Metatarsus adductus - not a rare disease
Metatropic dwarfism - See Metatropic dysplasia
Metatropic dysplasia
Metatropic dysplasia, nonlethal dominant - See Metatropic dysplasia
METCDS - See Metachondromatosis
Methacrylic acid toxicity - See HIBCH deficiency
Methacrylic aciduria - See HIBCH deficiency
Methemoglobinemia due to deficiency of methemoglobin reductase - See NADH cytochrome B5 reductase deficiency
Methemoglobinemia, beta-globin type
Methimazole antenatal exposure
Methimazole embryofetopathy - See Methimazole antenatal exposure
Methimazole/carbimazole embryofetopathy - See Methimazole antenatal exposure
Methimazole/carbimazole embryopathy - See Methimazole antenatal exposure
Methionine adenosyltransferase deficiency
Methionine synthase deficiency - See Methylcobalamin deficiency cbl G type
Methyl mercury antenatal exposure - See Fetal methylmercury syndrome
Methylcobalamin deficiency cbl G type
Methylcobalamin deficiency, cbl E complementation type
Methylcrotonylglycinuria type 2 - See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
Methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
Methylenetetrahydrofolate reductase variant - See MTHFR gene variant - not a rare disease
Methylmalonic acidemia
Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic acidemia and homocysteinemia, cblX type - See Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic acidemia and homocystinemia - See Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia and homocystinuria cblc - See Methylmalonic acidemia with homocystinuria type cblC
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE - See Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia cblA type - See Methylmalonic aciduria, cblA type
Methylmalonic acidemia cblB type - See Methylmalonic aciduria, 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 - See Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia with homocystinuria, type cblJ - See Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic acidemia with homocystinuria, type cblX - See Methylmalonic acidemia and homocysteinemia type cblX
METHYLMALONIC ACIDEMIA, cblB TYPE - See Methylmalonic aciduria, cblB type
METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY - See Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic aciduria and homocystinuria cblc - See Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic aciduria and homocystinuria, cblC type - See Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic aciduria and homocystinuria, cblJ type - See Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic aciduria cblA type - See Methylmalonic aciduria, cblA type
Methylmalonic aciduria cblB type - See Methylmalonic aciduria, cblB type
Methylmalonic aciduria microcephaly cataract
Methylmalonic aciduria with homocystinuria, type cblD - See Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic aciduria with homocystinuria, type cblF - See Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic aciduria with homocystinuria, type cblJ - See Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic aciduria with homocystinuria, type cblX - See Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
METHYLMALONIC ACIDURIA, cblB TYPE - See Methylmalonic aciduria, cblB type
METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED - See Methylmalonic acidemia with homocystinuria type cblD
METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY - See Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type - See Methylmalonic aciduria, cblA type
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE - See Methylmalonic aciduria, cblB type
Methylmalonyl-Coenzyme A mutase deficiency
Mevalonic aciduria
Mevalonicaciduria - See Mevalonic aciduria
Meyer-Schwickerath's syndrome - See Fraser syndrome
MFD Toriello type - See Branchial arch syndrome X-linked
MFD1 - See Treacher Collins syndrome
MFDGA - See Mandibulofacial dysostosis with microcephaly
MFDM - See Mandibulofacial dysostosis with microcephaly
MFDM syndrome - See Mandibulofacial dysostosis with microcephaly
MFT1 - See Multiple familial trichoepithelioma
MFT2 - See Multiple familial trichoepithelioma
MGA 5 - See 3 methylglutaconic aciduria type V
MGA type I - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
MGA type II - See Barth syndrome
MGA type III - See OPA3 defect
MGA V - See 3 methylglutaconic aciduria type V
MGA3 - See OPA3 defect
MGA5 - See DCMA syndrome
MGAT2-CDG - See MGAT2-CDG (CDG-IIa)
MGAT2-CDG (CDG-IIa)
MGC1 - See Isolated congenital megalocornea
MGCN - See Isolated congenital megalocornea
MGN - See Membranous nephropathy
MGS - See Mungan syndrome
MGUS - See Monoclonal gammopathy of undetermined significance
MH - See Malignant hyperthermia
MHAC - See Microhydranencephaly
MHAM - See Cowden syndrome
MHBD deficiency - See 2-methyl-3-hydroxybutyric aciduria
MHC class 1 deficiency
MHP1 - See Familial hemiplegic migraine type 1
MHP2 - See Familial hemiplegic migraine type 2
MHP3 - See Familial hemiplegic migraine type 3
MHS - See Malignant hyperthermia susceptibility type 1
MHS1 - See Malignant hyperthermia susceptibility type 1
MHS2 - See Malignant hyperthermia susceptibility type 2
MHS3 - See Malignant hyperthermia susceptibility type 3
MHS4 - See Malignant hyperthermia susceptibility type 4
MHS5 - See Malignant hyperthermia susceptibility type 5
MHS6 - See Malignant hyperthermia susceptibility type 6
Michelin tire baby syndrome
Michellis-Castrillo syndrome - See Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Michels Caskey syndrome
MICPCH - See X-linked intellectual disability, Najm type
MICPCH SYNDROME - See X-linked intellectual disability, Najm type
Micro syndrome
Microangiopathic hemolytic anemia - See Congenital thrombotic thrombocytopenic purpura
Microangiopathic hemolytic anemia, congenital - See Congenital thrombotic thrombocytopenic purpura
Microbrachycephaly ptosis cleft lip
Microcephalia vera - See Autosomal recessive primary microcephaly
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 - See Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities - See Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic primordial dwarfism and cataracts - See Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, Montreal type
Microcephaly
Microcephaly - brain defect - spasticity - hypernatremia - See Microcephaly brain defect spasticity hypernatremia
Microcephaly - intracranial calcification - intellectual disability - See Congenital intrauterine infection-like syndrome
Microcephaly - seizures - developmental delay - See Early Infantile Epileptic Encephalopathy
Microcephaly autosomal dominant
Microcephaly brachydactyly kyphoscoliosis - See Viljoen Kallis Voges syndrome
Microcephaly brain defect spasticity hypernatremia
Microcephaly cervical spine fusion anomalies
Microcephaly chorioretinopathy recessive form
Microcephaly cleft palate autosomal dominant - See Halal syndrome
Microcephaly deafness syndrome
Microcephaly glomerulonephritis Marfanoid habitus
Microcephaly hypergonadotropic hypogonadism short stature
Microcephaly hypogammaglobulinemia abnormal immunity - See Say Barber Miller syndrome
Microcephaly immunodeficiency lymphoreticuloma - See Nijmegen breakage syndrome
Microcephaly intracranial calcification - See Baraitser Brett Piesowicz syndrome
Microcephaly lymphedema chorioretinal dysplasia - See Lymphedema, microcephaly and chorioretinopathy syndrome
Microcephaly microcornea syndrome Seemanova type
Microcephaly micropenis convulsions
Microcephaly micropenis seizures - See Microcephaly micropenis convulsions
Microcephaly microphthalmia ectrodactyly of lower limbs and prognathism - See Microphthalmia syndromic 8
Microcephaly microphthalmos blindness
Microcephaly nephrosis syndrome - See Galloway-Mowat syndrome
Microcephaly nonsyndromal
Microcephaly pontocerebellar hypoplasia dyskinesia
Microcephaly seizures genital hypoplasia - See Microcephaly micropenis convulsions
Microcephaly vera - See Autosomal recessive primary microcephaly
Microcephaly with autosomal dominant inheritance - See Microcephaly autosomal dominant
Microcephaly with cardiomyopathy - See Microcephaly-cardiomyopathy
Microcephaly with chemotactic defect and transient hypogammaglobulinemia - See Say Barber Miller syndrome
Microcephaly with chorioretinopathy, autosomal dominant form
Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies - See Nijmegen breakage syndrome
microcephaly with pontine and cerebellar hypoplasia - See X-linked intellectual disability, Najm type
Microcephaly with spastic diplegia - See Paine syndrome
Microcephaly with spastic quadriplegia
Microcephaly, Amish type - See Amish lethal microcephaly
Microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency - See Hersh Podruch Weisskopk syndrome
Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis - See Ellis Yale Winter syndrome
Microcephaly, corpus callosum dysgenesis and cleft lip-palate
Microcephaly, facial clefting, and preaxial polydactyly - See Microcephaly, corpus callosum dysgenesis and cleft lip-palate
Microcephaly, hiatal hernia, and nephrotic syndrome - See Galloway-Mowat syndrome
Microcephaly, holoprosencephaly, and intrauterine growth retardation
Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation - See Wolf-Hirschhorn syndrome
Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism - See Micro syndrome
Microcephaly, mild mental retardation, short stature, and skeletal anomalies - See Microcephaly cervical spine fusion anomalies
Microcephaly, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy and nystagmus - See Silengo Lerone Pelizza syndrome
Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy
Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability - See Viljoen Kallis Voges syndrome
Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia - See Milner Khallouf Gibson syndrome
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-cardiomyopathy
Microcephaly-cardiomyopathy syndrome - See Microcephaly-cardiomyopathy
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Microcephaly-intracranial calcification-intellectual disability syndrome - See Congenital intrauterine infection-like syndrome
Microcephaly-microcornea syndrome, Seemanova type - See Microcephaly microcornea syndrome Seemanova type
Microcephaly-oculo-digito-esophageal-duodenal syndrome - See Feingold syndrome
Microcoria - congenital nephrosis - See Pierson syndrome
Microcoria - congenital nephrotic syndrome - See Pierson syndrome
Microcoria, congenital - See Congenital microcoria
Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
Microcornea cataract syndrome - See Cataract microcornea syndrome
Microcornea corectopia macular hypoplasia
Microcornea, glaucoma, and absent frontal sinuses
Microcystic adnexal carcinoma
Microcystic dystrophy of the cornea - See Epithelial basement membrane corneal dystrophy
Microcystic infiltrating lymphatic malformation - See Microcystic lymphatic malformation
Microcystic lymphangioma - See Microcystic lymphatic malformation
Microcystic lymphatic malformation
Microcytic anemia and hepatic iron overload - See Hypochromic microcytic anemia with iron overload
Microcytic anemia with liver iron overload - See Hypochromic microcytic anemia with iron overload
Microdeletion 15q13.3 syndrome - See 15q13.3 microdeletion syndrome
Microdeletion 16p11.2 - See 16p11.2 deletion syndrome
Microdeletion 17q21.31 syndrome - See Koolen de Vries syndrome
Microdontia hypodontia short stature
Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality - See Microdontia hypodontia short stature
Microduplication 15q13.3 syndrome - See 15q13.3 microduplication syndrome
Microduplication 3q29 syndrome - See Chromosome 3q29 microduplication syndrome
Microduplication Xp11.22-p11.23 syndrome
Microencephaly
Microgastria limb reduction defect
Microgastria-limb reduction defects association - See Microgastria limb reduction defect
Microhydranencephaly
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects - See Spondyloepimetaphyseal dysplasia micromelic
Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification - See Desbuquois syndrome
Micromelic dysplasia congenita with dislocation of radius - See Omodysplasia 1
Micropenis - See Penis agenesis
Microphthalmia
Microphthalmia and brain atrophy - See Microphthalmia syndromic 10
Microphthalmia and esophageal atresia syndrome - See Syndromic microphthalmia, type 3
Microphthalmia and pituitary anomalies - See Microphthalmia syndromic 6
Microphthalmia associated with colobomatous cyst
Microphthalmia cataracts radiculomegaly and septal heart defects - See Oculofaciocardiodental syndrome
Microphthalmia Dermal Aplasia and Sclerocornea syndrome - See Microphthalmia with linear skin defects syndrome
Microphthalmia Lenz type - See Lenz microphthalmia syndrome
Microphthalmia microtia fetal akinesia
Microphthalmia or anophthalmos with associated anomalies (formerly) - See Lenz microphthalmia syndrome
Microphthalmia syndromic 1 - See Lenz microphthalmia syndrome
Microphthalmia syndromic 10
Microphthalmia syndromic 2 - See Oculofaciocardiodental syndrome
Microphthalmia syndromic 4
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 8
Microphthalmia syndromic 9
Microphthalmia with ankyloblepharon and mental retardation - See Microphthalmia syndromic 4
Microphthalmia with brain and digit developmental anomalies - See Microphthalmia syndromic 6
Microphthalmia with cataract 1
Microphthalmia with facial clefting - See Anophthalmia plus syndrome
Microphthalmia with linear skin defects - See Microphthalmia with linear skin defects syndrome
Microphthalmia with linear skin defects syndrome
Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects - See Syndromic microphthalmia-12
Microphthalmia-anophthalmia-coloboma spectrum - See Microphthalmia
Microphthalmia-dermal aplasia-sclerocornea syndrome - See Microphthalmia with linear skin defects syndrome
Microphthalmia-microtia-fetal akinesia - See Microphthalmia microtia fetal akinesia
Microphthalmia-optic nerve dysplasia - See Oculo-cerebral dysplasia
Microphthalmos bilateral, colobomatous orbital cyst - See Microphthalmia associated with colobomatous cyst
Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities - See Rodrigues blindness
Microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism - See Duker Weiss Siber syndrome
Micropthalmia syndromic 7 - See Microphthalmia with linear skin defects syndrome
Microscopic colitis, collagenous type - See Collagenous colitis - not a rare disease
Microscopic polyangiitis
Microsomal triglyceride transfer protein deficiency - See Abetalipoproteinemia
Microsomal triglyceride transfer protein deficiency disease - See Abetalipoproteinemia
Microsomia hemifacial radial defects
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma - See Megalocornea - spherophakia - secondary glaucoma
Microspherophakia with hernia
Microspherophakia-metaphyseal dysplasia - See Verloes Van Maldergem Marneffe syndrome
Microsporidiasis - See Microsporidiosis
Microsporidiosis
Microtia aortic arch syndrome - See Isotretinoin embryopathy like syndrome
Microtia eye coloboma and imperforation of the nasolacrimal duct
Microtia meatal atresia deafness dominant - See Gupta Patton syndrome
Microtia with meatal atresia and conductive deafness - See Gupta Patton syndrome
Microtia, absent patellae, micrognathia syndrome - See Meier-Gorlin syndrome
Microtia, meatal atresia and conductive deafness
Microtia-Anotia
Microvillus atrophy, congenital - See Microvillus inclusion disease
Microvillus inclusion disease
MIDAS syndrome - See Microphthalmia with linear skin defects syndrome
Midbrain stroke syndromes - See Weber syndrome
MIDD - See Maternally inherited diabetes and deafness
Middigital hair - See Midphalangeal hair
Midline cleft of lower lip
Midline development field defects - See Schisis association
Midline granulomatosis - See Granulomatosis with polyangiitis
Midline lethal granuloma
Midphalangeal hair
Miescher elastoma - See Elastosis perforans serpiginosa
Mietens syndrome - See Mietens-Weber syndrome
Mietens-Weber syndrome
Mievis Verellen-Dumoulin syndrome - See Short stature syndrome, Brussels type
Migraine with brainstem aura
Migraine, familial hemiplegic 1, with progressive cerebellar ataxia - See Familial hemiplegic migraine type 1
Migraine, familial hemiplegic, 2 - See Familial hemiplegic migraine type 2
Migraine, familial hemiplegic, 3 - See Familial hemiplegic migraine type 3
Migrainous syndrome with cerebrospinal fluid pleocytosis - See HaNDL syndrome
Migrating partial epilepsy of infancy - See Malignant migrating partial seizures of infancy
Migrating partial seizures in infancy - See Malignant migrating partial seizures of infancy
Migrating partial seizures of infancy - See Malignant migrating partial seizures of infancy
Mikaelian syndrome - See Congenital ectodermal dysplasia with hearing loss
Mikati Najjar Sahli syndrome - See Microcephaly hypergonadotropic hypogonadism short stature
Mikulicz disease (former) - See IgG4-related dacryoadenitis and sialadenitis
Mikulicz syndrome (former) - See IgG4-related dacryoadenitis and sialadenitis
Mikulicz's disease (former) - See IgG4-related dacryoadenitis and sialadenitis
Mild ABCB11 deficiency - See Benign recurrent intrahepatic cholestasis 2
Mild androgen insensitivity syndrome - See Androgen insensitivity syndrome, mild
Mild ATP8B1 deficiency - See Benign recurrent intrahepatic cholestasis 1
Mild form of FAP - See Attenuated familial adenomatous polyposis
Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies - See Cantu Sanchez-Corona Hernandez syndrome
Mild nemaline myopathy - See Childhood-onset nemaline myopathy
Mild osteogenesis imperfecta - See Osteogenesis imperfecta type I
Mild phenylketonuria
Mild PKU - See Mild phenylketonuria
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis - See Jorgenson Lenz syndrome
Miliaria, apocrine - See Fox-Fordyce disease
Miliary hepatocellular adenomatosis - See Nodular regenerative hyperplasia
Miller syndrome
Miller-Dieker lissencephaly syndrome - See Miller-Dieker syndrome
Miller-Dieker syndrome
Miller-Fisher syndrome
Milner Khallouf Gibson syndrome
Milroy disease
Milroy's disease - See Milroy disease
MILS - See Mitochondrial DNA-associated Leigh syndrome
Minamata disease - See Fetal methylmercury syndrome
Mineralocorticoid excess - See Primary hyperaldosteronism - not a rare disease
Minicore myopathy with external ophthalmoplegia
Minicore myopathy, antenatal onset, with arthrogryposis
Minicore myopathy, severe classic form - See Rigid spine syndrome
Minimal change disease
Minimal change glomerulopathy - See Minimal change disease
Minimal change nephrotic syndrome - See Minimal change disease
Minor streblomicrodactyly, familial - See Familial streblodactyly
Minoxidil antenatal exposure - See Fetal minoxidil syndrome
Minoxidil antenatal infection - See Fetal minoxidil syndrome
Miosis, congenital - See Congenital microcoria
MIRAGE syndrome
Mirhosseini-Holmes-Walton syndrome - See Retinopathy pigmentary mental retardation
Mirizzi syndrome
Mirizzi's syndrome - See Mirizzi syndrome
Mirror hands and feet with nasal defects - See Laurin-Sandrow syndrome
Mirror movements - See Congenital mirror movement disorder
Mirror polydactyly segmentation and limbs defects
Mismatch Repair Cancer Syndrome - See Turcot syndrome
Mismatch Repair Deficiency - See Turcot syndrome
Misophonia
Missouri type of spondyloepimetaphyseal dysplasia - See Spondyloepimetaphyseal dysplasia Missouri type
Mitchell disease (formerly) - See Erythromelalgia
Mitochondrial acetoacetyl-CoA Thiolase deficiency - See Beta ketothiolase deficiency
MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY - See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Mitochondrial carbonic anhydrase va deficiency - See Carbonic anhydrase VA deficiency
Mitochondrial complex deficiency, combined - See Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial complex IV deficiency - See Cytochrome c oxidase deficiency
Mitochondrial complex V deficiency
Mitochondrial cytopathy - See Kearns-Sayre syndrome
Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 6 - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 8A - See RRM2B-related mitochondrial DNA depletion syndrome
Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive - See Encephalomyopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency - See TMEM70 defect
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency - See TMEM70 defect
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency - See TMEM70 defect
Mitochondrial encephalomyopathy aminoacidopathy - See Encephalomyopathy
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration - See MEPAN syndrome
Mitochondrial genetic disorders
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial myopathy, lipid type - See Mitochondrial myopathy with diabetes
Mitochondrial NADH dehydrogenase component of complex I, deficiency of - See Mitochondrial complex I deficiency
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial respiratory chain complex II deficiency - See Mitochondrial 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 - See Mitral valve prolapse, familial, X-linked
Mitral valve prolapse, familial, autosomal dominant
Mitral valve prolapse, familial, X-linked
Miura syndrome
Mixed cell tumors containing both neural ganglionic cells and neural glial cell components - See Ganglioglioma
Mixed cerebral palsy - See Cerebral palsy - not a rare disease
Mixed connective tissue disease
Mixed dust pneumoconiosis - See Labrador lung
Mixed hyperlipemia - See Hyperlipoproteinemia type 5
Mixed lineage acute leukemia - See Acute leukemia of ambiguous lineage
Mixed müllerian cancer of corpus uteri - See Uterine Carcinosarcoma
Mixed Mullerian tumor - See Malignant mixed Mullerian tumor
Mixed phenotype acute leukemia - See Acute leukemia of ambiguous lineage
Mixed sclerosing bone dystrophy - See Melorheostosis with osteopoikilosis
Mixed spasmodic dysphonia (type) - See Spasmodic dysphonia
Mixed tumor, Mullerian - See Malignant mixed Mullerian tumor
Miyoshi distal myopathy - See Miyoshi myopathy
Miyoshi myopathy
MJD - See Spinocerebellar ataxia 3
MKKS - See McKusick Kaufman syndrome
MKS - See Meckel syndrome
MKS2 - See Meckel syndrome type 2
MKS3 - See Meckel syndrome type 3
ML 2 - See I cell disease
ML 3 A - See Mucolipidosis III alpha/beta
ML 4 - See Mucolipidosis type 4
ML disorder type 2 - See I cell disease
ML1 - See Sialidosis, type II
ML3 - See Mucolipidosis III alpha/beta
MLASA - See Sideroblastic anemia and mitochondrial myopathy
MLC - See Megalencephalic leukoencephalopathy with subcortical cysts
MLD - See Metachromatic leukodystrophy
MLRD - See Microgastria limb reduction defect
MLS syndrome - See Microphthalmia with linear skin defects syndrome
MLT - See Multifocal lymphangioendotheliomatosis with thrombocytopenia
MM - See Miyoshi myopathy
MMA - See Methylmalonic acidemia
MMA cbl A type - See Methylmalonic aciduria, cblA type
MMAD - See ACTH-independent macronodular adrenal hyperplasia
MMAS - See Monoclonal mast cell activation syndrome
MMDD - See Adenosine monophosphate deaminase 1 deficiency
MMDK - See Mesomelic dysplasia Kantaputra type
MMEP - See Microphthalmia syndromic 8
MMEP syndrome - See Microphthalmia syndromic 8
MMF - See Macrophagic myofasciitis
MMIH syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
MMIHS - See Megacystis microcolon intestinal hypoperistalsis syndrome
MMMT - See Malignant mixed Mullerian tumor
MMMT of the ovary - See Ovarian carcinosarcoma
MMN - See Multifocal motor neuropathy
MMNCB - See Multifocal motor neuropathy
MMND - See Madras motor neuron disease - not a rare disease
MMPEI - See Malignant migrating partial seizures of infancy
MMPSI - See Malignant migrating partial seizures of infancy
MMR Deficiency - See Turcot syndrome
MMR syndrome - See Megalocornea-intellectual disability syndrome
MMRCS - See Turcot syndrome
MMS - See Medial Medullary Syndrome
MMT syndrome - See Feingold syndrome
MNDJ - See Neuropathy, distal hereditary motor, Jerash type
MNG/CRD/DA - See Daneman Davy Mancer syndrome
MNGIE - See Mitochondrial neurogastrointestinal encephalopathy syndrome
MNGIE syndrome - See Mitochondrial neurogastrointestinal encephalopathy syndrome
MNRI - See Radiation induced meningioma
MNS - See Melnick-Needles syndrome
MOBA - See Microphthalmia syndromic 10
Mobius syndrome - See Moebius syndrome
Mobius syndrome 2 (formerly) - See Hereditary congenital facial paresis
MOCOD - See Molybdenum cofactor deficiency
MODY - See Maturity-onset diabetes of the young
MODY type 3 - See Maturity-onset diabetes of the young
MODY glucokinase-related - See Maturity-onset diabetes of the young
MODY hepatocyte nuclear factor-1-alpha related - See Maturity-onset diabetes of the young
MODY HNF4A related - See Maturity-onset diabetes of the young
MODY insulin promoter factor-1 related - See Maturity-onset diabetes of the young
MODY KLF11 related - See Maturity-onset diabetes of the young
MODY NEUROD1 related - See Maturity-onset diabetes of the young
MODY PAX4 related - See Maturity-onset diabetes of the young
MODY type 1 - See Maturity-onset diabetes of the young
MODY type 2 - See Maturity-onset diabetes of the young
MODY type 4 - See Maturity-onset diabetes of the young
MODY type 5 - See Maturity-onset diabetes of the young
MODY type 6 - See Maturity-onset diabetes of the young
MODY type 7 - See Maturity-onset diabetes of the young
MODY type 9 - See Maturity-onset diabetes of the young
MODY1 - See Maturity-onset diabetes of the young
MODY2 - See Maturity-onset diabetes of the young
MODY3 - See Maturity-onset diabetes of the young
MODY4 - See Maturity-onset diabetes of the young
MODY5 - See Maturity-onset diabetes of the young
MODY6 - See Maturity-onset diabetes of the young
MODY7 - See Maturity-onset diabetes of the young
MODY8 - See Maturity-onset diabetes of the young
MODY9 - See Maturity-onset diabetes of the young
Moebius axonal neuropathy hypogonadism
Moebius sequence - See Moebius syndrome
Moebius sequence, Robin complex, and hypotonia - See Carey-Fineman-Ziter syndrome
Moebius syndrome
Moebius syndrome 2 (formerly) - See Hereditary congenital facial paresis
Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type - See Moebius axonal neuropathy hypogonadism
Moerman Van den berghe Fryns syndrome - See Fryns syndrome
Moersch-Woltman syndrome - See Stiff person syndrome
Moeschler Clarren syndrome - See Microsomia hemifacial radial defects
MOGS-CDG - See MOGS-CDG (CDG-IIb)
MOGS-CDG (CDG-IIb)
Mohr syndrome - See Orofaciodigital syndrome 2
Mohr-Tranebjaerg syndrome
Mohr-Wriedt type brachydactyly - See Brachydactyly type A2
Molar I reinclusion - See Ankylosis of teeth
Molar pregnancy - See Hydatidiform mole
Mollaret meningitis
Mollaret's meningitis - See Mollaret meningitis
Moloney syndrome
Molybdenum cofactor deficiency
MOMO syndrome
MONA - See Torg Winchester syndrome
Monday morning fever - See Byssinosis
Mondini dysplasia
Mondor disease
Monilethrix
Monkeypox
Monkeypox virus infection - See Monkeypox
Monoamine oxidase A deficiency
Monocarboxylate transporter-8 deficiency - See Allan-Herndon-Dudley syndrome
Monoclonal gammopathy of undetermined significance
Monoclonal mast cell activation syndrome
Monocyte - B - natural killer - dendritic cell deficiency - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Monocytopenia and mycobacterial infection syndrome - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Monocytopenia with susceptibility to infections - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Monogenic diabetes - not a rare disease
MONOMAC - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Monomelic amyotrophy
Monomodal visual amnesia - See Agnosia
Monomorphic clear cell tumor - See Epithelial-myoepithelial carcinoma
Monomorphic NK-cell lymphoma - See Blastic plasmacytoid dendritic cell
Mononen Karnes Senac syndrome - See Brachydactyly Mononen type
Mononeuritis multiplex
Monosaccharide malabsorption - See Glucose-galactose malabsorption
Monosomy 10p - See Chromosome 10p deletion
Monosomy 10q - See Chromosome 10q deletion
Monosomy 10q22.3q23.3 - See 10q22.3q23 microdeletion syndrome
Monosomy 11p - See Chromosome 11p deletion
Monosomy 11q - See Chromosome 11q deletion
Monosomy 12p - See Chromosome 12p deletion
Monosomy 12q - See Chromosome 12q deletion
Monosomy 12q14 - See 12q14 microdeletion syndrome
Monosomy 13q - See Chromosome 13q deletion
Monosomy 14q - See Chromosome 14q deletion
Monosomy 14q22q23 - See Frias syndrome
Monosomy 14q22-q23 - See Frias syndrome
Monosomy 15q - See Chromosome 15q deletion
Monosomy 15q11.2 - See 15q11.2 microdeletion
Monosomy 15q24 - See 15q24 microdeletion syndrome
Monosomy 16p - See Chromosome 16p deletion
Monosomy 16p11.2 - See 16p11.2 deletion syndrome
Monosomy 16q - See Chromosome 16q deletion
Monosomy 16q24.3 - See 16q24.3 microdeletion syndrome
Monosomy 17p - See Chromosome 17p deletion
Monosomy 17q - See Chromosome 17q deletion
Monosomy 17q11 - See Chromosome 17q11.2 deletion syndrome
Monosomy 17q12 - See 17q12 deletion syndrome
Monosomy 17q21.31 - See Koolen de Vries syndrome
Monosomy 17q23.1q23.2 - See 17q23.1q23.2 microdeletion syndrome
Monosomy 17q23.1-q23.2 - See 17q23.1q23.2 microdeletion syndrome
Monosomy 18 mosaicism - See Mosaic monosomy 18
Monosomy 18p - See Chromosome 18p deletion
Monosomy 18q syndrome - See Distal chromosome 18q deletion syndrome
Monosomy 18q syndrome - See Proximal chromosome 18q deletion syndrome
Monosomy 19p - See Chromosome 19p deletion
Monosomy 19p13.12 - See 19p13.12 microdeletion syndrome
Monosomy 19q - See Chromosome 19q deletion
Monosomy 1p - See Chromosome 1p deletion
Monosomy 1p36 syndrome - See Chromosome 1p36 deletion syndrome
Monosomy 1q - See Chromosome 1q deletion
Monosomy 1q21.1 - See 1q21.1 microdeletion syndrome
Monosomy 1q41-q42 - See Chromosome 1q41-q42 deletion syndrome
Monosomy 1q44 - See 1q44 microdeletion syndrome
Monosomy 20p - See Chromosome 20p deletion
Monosomy 20p12.3 - See 20p12.3 microdeletion syndrome
Monosomy 20q - See Chromosome 20q deletion
Monosomy 21q - See Chromosome 21q deletion
Monosomy 22 mosaicism - See Mosaic monosomy 22
Monosomy 22q - See Chromosome 22q deletion
Monosomy 22q13 - See 22q13.3 deletion syndrome
Monosomy 2p - See Chromosome 2p deletion
Monosomy 2p15p16.1 - See 2p15p16.1 microdeletion syndrome
Monosomy 2p15-p16.1 - See 2p15p16.1 microdeletion syndrome
Monosomy 2q - See Chromosome 2q deletion
Monosomy 2q23.1 - See 2q23.1 microdeletion syndrome
Monosomy 2q24 - See Chromosome 2q24 microdeletion syndrome
Monosomy 2q32-q33 - See SATB2-associated syndrome
Monosomy 3p - See Chromosome 3p deletion
Monosomy 3pter - See Chromosome 3p- syndrome
Monosomy 3q - See Chromosome 3q deletion
Monosomy 3q29 - See 3q29 microdeletion syndrome
Monosomy 3qter - See 3q29 microdeletion syndrome
Monosomy 4p - See Chromosome 4p deletion
Monosomy 4q - See Chromosome 4q deletion
Monosomy 5p - See Chromosome 5p deletion
Monosomy 5p - See Cri du chat syndrome
Monosomy 5q - See Chromosome 5q deletion
Monosomy 5q14.3 - See 5q14.3 microdeletion syndrome
Monosomy 6p - See Chromosome 6p deletion
Monosomy 6q - See Chromosome 6q deletion
Monosomy 6q25 - See Chromosome 6q25 microdeletion syndrome
Monosomy 7p - See Chromosome 7p deletion
Monosomy 7q - See Chromosome 7q deletion
Monosomy 7q11.23 - See Williams syndrome
Monosomy 8p - See Chromosome 8p deletion
Monosomy 8p23.1 - See Chromosome 8p23.1 deletion
Monosomy 8q - See Chromosome 8q deletion
Monosomy 8q24.1 - See Trichorhinophalangeal syndrome type 2
Monosomy 9p - See Chromosome 9p deletion
Monosomy 9q - See Chromosome 9q deletion
Monosomy Xp - See Chromosome Xp deletion
Monosomy Xq - See Chromosome Xq deletion
Montefiore syndrome
Montgomery syndrome - See Xanthoma disseminatum
MOPD 1 - See Microcephalic osteodysplastic primordial dwarfism type 1
MOPD 2 - See Microcephalic osteodysplastic primordial dwarfism type 2
MOPD II - See Microcephalic osteodysplastic primordial dwarfism type 2
Moran-Barroso Syndrome - See Orofaciodigital syndrome 12
Morel's ear
Morgagni-Stewart-Morel syndrome
Morgellons
Morgellon's - See Morgellons
MORM syndrome
Morning glory syndrome
Morphea
Morquio A disease - See Mucopolysaccharidosis type IVA
Morquio disease - See Mucopolysaccharidosis type IV
Morquio disease type A - See Mucopolysaccharidosis type IVA
Morquio syndrome A - See Mucopolysaccharidosis type IVA
Morquio syndrome B
Morsch Woltman syndrome - See Stiff person syndrome
Morse-Rawnsley-Sargent syndrome
Morvan disease - See Hereditary sensory and autonomic neuropathy type 2
Morvan's fibrillary chorea
Mosaic monosomy 18
Mosaic monosomy 22
Mosaic monosomy chromosome 18 - See Mosaic monosomy 18
Mosaic monosomy chromosome 22 - See Mosaic monosomy 22
Mosaic tetrasomy 9p - See Tetrasomy 9p
Mosaic triploidy - See Diploid-triploid mosaicism
Mosaic trisomy 10 - See Chromosome 10, uniparental disomy
Mosaic trisomy 13
Mosaic trisomy 14
Mosaic trisomy 16 - See Chromosome 16 trisomy
Mosaic trisomy 1q12 q21 - See Chromosome 1, uniparental disomy 1q12 q21
Mosaic trisomy 2 - See Trisomy 2 mosaicism
Mosaic trisomy 20 - See Chromosome 20 trisomy
Mosaic trisomy 22
Mosaic trisomy 6
Mosaic trisomy 7
Mosaic trisomy 8
Mosaic trisomy 9
Mosaic trisomy chromosome 13 - See Mosaic trisomy 13
Mosaic trisomy chromosome 14 - See Mosaic trisomy 14
Mosaic trisomy chromosome 22 - See Mosaic trisomy 22
Mosaic trisomy chromosome 7 - See Mosaic trisomy 7
Mosaic trisomy chromosome 8 - See Mosaic trisomy 8
Mosaic trisomy chromosome 9 - See Mosaic trisomy 9
Mosaic trisomy of chromosome 5 - See Chromosome 5, uniparental disomy
Mosaic variegated aneuploidy syndrome
Moschowitz syndrome - See Thrombotic thrombocytopenic purpura, acquired
MOTA syndrome - See Manitoba oculotrichoanal syndrome
Motor neuro-ophthalmic disorders - See Ocular motility disorders
Motor neuro-ophthalmic disorders
Motor neuropathy, distal, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
Motor sensory neuropathy type 1 aplasia cutis congenita
Mounier Kuhn syndrome - See Mounier-Kuhn syndrome
Mounier-Kuhn syndrome
Mountain sickness - See Acute mountain sickness
Mousa Al din Al Nassar syndrome
Mouth and genital ulcers with inflamed cartilage - See MAGIC syndrome
Mowat-Wilson syndrome
Moyamoya disease
Moyamoya syndrome - See Moyamoya disease
Moynahan alopecia syndrome - See Alopecia epilepsy oligophrenia syndrome of Moynahan
Moynahan syndrome - See Alopecia epilepsy oligophrenia syndrome of Moynahan
MPAN - See Mitochondrial Membrane Protein-Associated Neurodegeneration
MPD2 - See Distal myopathy with vocal cord weakness
MPDU1-CDG - See MPDU1-CDG (CDG-If)
MPDU1-CDG (CDG-If)
MPDU1-CDG (CDG-If) - See MPDU1-CDG (CDG-If)
MPEI - See Malignant migrating partial seizures of infancy
MPGN - See Membranoproliferative glomerulonephritis
MPGN 2 - See Dense deposit disease
MPI deficiency - See MPI-CDG (CDG-Ib)
MPI-CDG (CDG-Ib) - See MPI-CDG (CDG-Ib)
MPI-CDG (CDG-Ib)
mPKU - See Mild phenylketonuria
MPKU - See Maternal hyperphenylalaninemia
MPNST - See Malignant peripheral nerve sheath tumor
MPO deficiency - See Myeloperoxidase deficiency
MPPC syndrome - See Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
MPPH syndrome - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
MPS - See Mucopolysaccharidosis
MPS 1 - See Mucopolysaccharidosis type I
MPS 2 - See Mucopolysaccharidosis type II
MPS 3A - See Mucopolysaccharidosis type IIIA
MPS 3B - See Mucopolysaccharidosis type IIIB
MPS 3C - See Mucopolysaccharidosis type IIIC
MPS 3D - See Mucopolysaccharidosis type IIID
MPS 4A - See Mucopolysaccharidosis type IVA
MPS 4B - See Morquio syndrome B
MPS 6 - See Mucopolysaccharidosis type VI
MPS 7 - See Mucopolysaccharidosis type VII
MPS I - See Mucopolysaccharidosis type I
MPS II - See Mucopolysaccharidosis type II
MPS IIIA - See Mucopolysaccharidosis type IIIA
MPS IIIB - See Mucopolysaccharidosis type IIIB
MPS IIIC - See Mucopolysaccharidosis type IIIC
MPS IIID - See Mucopolysaccharidosis type IIID
MPS IVA - See Mucopolysaccharidosis type IVA
MPS IVB - See Morquio syndrome B
MPS V, FORMERLY - See Scheie syndrome
MPS VI - See Mucopolysaccharidosis type VI
MPS VII - See Mucopolysaccharidosis type VII
MPS1H - See Hurler syndrome
MPS1-H - See Hurler syndrome
MPS1H/S - See Hurler–Scheie syndrome
MPS1-HS - See Hurler–Scheie syndrome
MPS1S - See Scheie syndrome
MPS1-S - See Scheie syndrome
MPS3A - See Mucopolysaccharidosis type IIIA
MPS3C - See Mucopolysaccharidosis type IIIC
MPS3D - See Mucopolysaccharidosis type IIID
MPS4 - See Mucopolysaccharidosis type IV
MPS4A - See Mucopolysaccharidosis type IVA
MPS5, FORMERLY - See Scheie syndrome
MPSI - See Malignant migrating partial seizures of infancy
MPSIH - See Hurler syndrome
MPSIH/S - See Hurler–Scheie syndrome
MPSIII - See Mucopolysaccharidosis type III
MPSIIIA - See Mucopolysaccharidosis type IIIA
MPSIIIC - See Mucopolysaccharidosis type IIIC
MPSIIID - See Mucopolysaccharidosis type IIID
MPSIS - See Scheie syndrome
MPSIV - See Mucopolysaccharidosis type IV
MPSIVA - See Mucopolysaccharidosis type IVA
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
MPZ-related intermediate Charcot-Marie-Tooth neuropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
MRCLS - See Myxoid liposarcoma
MRD - See Multicystic renal dysplasia, bilateral
MRD5 - See SYNGAP1-related non-syndromic intellectual disability
MRKH syndrome - See Mullerian aplasia
MROS - See Melkersson-Rosenthal syndrome
MRS - See Melkersson-Rosenthal syndrome
MRX14 - See Mental retardation, X-linked 14
MRXS Christianson - See Christianson syndrome
MRXS1 - See Partington syndrome
MRXS11 - See Mental retardation X-linked syndromic 11
MRXS13 - See PPM-X syndrome
MRXS2 - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
MRXS3 - See Renpenning syndrome 1
MRXS5 - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
MRXS6 - See Wilson-Turner syndrome
MRXS7 - See Mental retardation X-linked syndromic 7
MRXS8 - See Renpenning syndrome 1
MRXSAB - See X-linked intellectual disability, Abidi type
MRXSL - See MECP2 duplication syndrome
MRXSSD - See X-linked intellectual disability, Siderius type
MS - See Multiple sclerosis - not a rare disease
MS pediatric - See Pediatric multiple sclerosis
MSA - See Multiple system atrophy
MSBD syndrome
MSBD syndrome - See Melorheostosis with osteopoikilosis
MSD - See Multiple sulfatase deficiency
Mseleni joint disease - See Handigodu disease - not a rare disease
MSM syndrome - See Morgagni-Stewart-Morel syndrome
MSMD - See Mendelian susceptibility to mycobacterial diseases
MSMD - See Atypical mycobacteriosis, familial
MSMD due to complete IL12RB1 deficiency - See IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency - See IL12RB1 deficiency
MSPKA - See Megalocornea - spherophakia - secondary glaucoma
MSS - See Marinesco-Sjogren syndrome
MSSD - See Syndactyly type 9
MSSE - See Multiple self healing squamous epithelioma
MSTD - See Frontotemporal dementia
MSUD - See Maple syrup urine disease
MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex - See Maple syrup urine disease type 1B
MSUD type 1A - See Maple syrup urine disease type 1A
MSUD type 2 - See Maple syrup urine disease type 2
MSUD type 3 (formerly) - See Maple syrup urine disease type 1B
MSUD type IB - See Maple syrup urine disease type 1B
MSUD2 - See Maple syrup urine disease type 2
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
MTDPS13 - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
MTDPS6 - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
MTHFR gene variant - not a rare disease
MTP deficiency - See Abetalipoproteinemia
MTS - See Mohr-Tranebjaerg syndrome
MUC1-related autosomal dominant tubulointerstitial kidney disease - See Mucin-1 kidney disease
Mucha-Habermann disease - See Pityriasis lichenoides et varioliformis acuta
Mucin-1 kidney disease
Mucinous adenocarcinoma - See Adenocarcinoma of the appendix
Mucinous carcinoid - See Goblet cell carcinoid
Muckle Wells syndrome - See Muckle-Wells syndrome
Muckle-Wells syndrome
Mucocutaneous lymph node syndrome - See Kawasaki disease
Mucoepidermoid carcinoma
Mucoepithelial dysplasia, hereditary - See Hereditary mucoepithelial dysplasia
Mucolipidosis 2 - See I cell disease
Mucolipidosis III alpha/beta
Mucolipidosis type 1 - See Sialidosis, type II
Mucolipidosis type 3A - See Mucolipidosis III alpha/beta
Mucolipidosis type 4
Mucolipidosis type IV - See Mucolipidosis type 4
Mucopolysaccharidosis
Mucopolysaccharidosis Ih - See Hurler syndrome
Mucopolysaccharidosis Ih/s - See Hurler–Scheie syndrome
Mucopolysaccharidosis Is - See Scheie syndrome
Mucopolysaccharidosis type 1H - See Hurler syndrome
Mucopolysaccharidosis type 1H/S - See Hurler–Scheie syndrome
Mucopolysaccharidosis type 1S - See Scheie syndrome
Mucopolysaccharidosis type 3 - See Mucopolysaccharidosis type III
Mucopoly-saccharidosis type 3 - See Mucopolysaccharidosis type III
Mucopolysaccharidosis type 3A - See Mucopolysaccharidosis type IIIA
Mucopoly-saccharidosis type 3A - See Mucopolysaccharidosis type IIIA
Mucopoly-saccharidosis type 3B - See Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type 3C - See Mucopolysaccharidosis type IIIC
Mucopoly-saccharidosis type 3C - See Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type 3D - See Mucopolysaccharidosis type IIID
Mucopoly-saccharidosis type 3D - See Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type 4 - See Mucopolysaccharidosis type IV
Mucopolysaccharidosis type 4A - See Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type 6 - See Mucopolysaccharidosis type VI
Mucopolysaccharidosis type 7 - See Mucopolysaccharidosis type VII
Mucopolysaccharidosis type I
Mucopolysaccharidosis type IH - See Hurler syndrome
Mucopolysaccharidosis type IH/S - See Hurler–Scheie syndrome
Mucopolysaccharidosis type II
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type IS - See Scheie syndrome
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type IVB - See Morquio syndrome B
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY - See Scheie syndrome
Mucopolysaccharidosis type VI
Mucopoly-saccharidosis type VI - See Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII
Mucosal lacerations - gastroesophageal junction - See Mallory-Weiss syndrome
Mucosal neuroma syndrome - See Multiple endocrine neoplasia type 2B
Mucosulfatidosis - See Multiple sulfatase deficiency
Mucoviscidosis - See Cystic fibrosis
Mud fever - See Leptospirosis
Muenke nonsyndromic coronal craniosynostosis - See Muenke Syndrome
Muenke Syndrome
MUHH - See Marie Unna congenital hypotrichosis
Muir-Torre syndrome
Mulberry teeth - See Hutchinson incisors
Mulibrey Nanism
Muller Barth Menger syndrome
Mullerian adenosarcoma of the uterus - See Adenosarcoma of the uterus
Müllerian agenesis - See Mullerian aplasia
Mullerian aplasia
Mullerian aplasia with hypoplastic thumbs - See Michels Caskey syndrome
Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities - See Michels Caskey syndrome
Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly - See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies - See MURCS association
Mullerian dysgenesis - See Mullerian aplasia
Multicentric carpotarsal osteolysis syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy - See Multicentric carpotarsal osteolysis syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy - See Multicentric osteolysis nephropathy
Multicentric Castleman Disease
Multicentric giant lymph node hyperplasia - See Multicentric Castleman Disease
Multicentric osteolysis nephropathy
Multicentric osteolysis, nodulosis and arthropathy - See Torg Winchester syndrome
Multicentric plasma cell variant of Castleman's disease - See Multicentric Castleman Disease
Multicentric reticulohistiocytosis
Multicore disease
Multicore myopathy with external ophthalmoplegia - See Minicore myopathy with external ophthalmoplegia
Multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism - See Chudley Rozdilsky syndrome
Multicore myopathy, antenatal onset, with arthrogryposis - See Minicore myopathy, antenatal onset, with arthrogryposis
Multicore myopathy, severe classic form - See Rigid spine syndrome
Multicystic renal dysplasia, bilateral
Multifocal acquired demyelinating sensory and motor neuropathy - See Lewis-Sumner syndrome
Multifocal choroiditis
Multifocal fibrosclerosis
Multifocal fibrosclerosis - See IgG4-related disease
Multifocal idiopathic fibrosclerosis - See IgG4-related disease
Multifocal inner choroiditis - See Punctate inner choroidopathy
Multifocal lymphangioendotheliomatosis with thrombocytopenia
Multifocal motor neuropathy
Multifocal motor neuropathy with conduction block - See Multifocal motor neuropathy
Multifocal osteomyelitis, chronic - See Chronic recurrent multifocal osteomyelitis
Multifocal placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
Multifocal ventricular premature beats - See Catecholaminergic polymorphic ventricular tachycardia
Multi-infarct dementia - See Binswanger's disease
Multilocular peritoneal cysts - See Benign multicystic peritoneal mesothelioma
Multilocular peritoneal inclusion cysts - See Benign multicystic peritoneal mesothelioma
Multiminicore disease with external ophthalmoplegia - See Minicore myopathy with external ophthalmoplegia
Multiminicore disease, severe classic form - See Rigid spine syndrome
Multiminicore myopathy, antenatal onset, with arthrogryposis - See Minicore myopathy, antenatal onset, with arthrogryposis
Multinodular goiter - cystic kidney - polydactyly - See Daneman Davy Mancer syndrome
Multinodular goiter, cystic renal disease, and digital anomalies - See Daneman Davy Mancer syndrome
Multiocre myopathy - See Multicore disease
Multiple Acyl-CoA dehydrogenase deficiency - See Glutaric acidemia type II
Multiple Angiomas and Endochondromas - See Maffucci syndrome
Multiple basal cell carcinoma - See Basal cell carcinoma, multiple
Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies - See Nevoid basal cell carcinoma syndrome
Multiple cafe´-au-lait spots - See Autosomal dominant café au lait spots
Multiple cafe´-au-lait syndrome - See Autosomal dominant café au lait spots
Multiple cafe-au-lait spots - See Cafe au lait spots, multiple
Multiple carboxylase deficiency
Multiple cartilaginous enchondroses - See Ollier disease
Multiple congenital anomalies - hypotonia - seizures syndrome - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies, mental retardation and progressive skeletal sclerosis - See Lenz Majewski hyperostotic dwarfism
Multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs - See Elliott Ludman Teebi syndrome
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 - See Lethal congenital contracture syndrome 1
Multiple contracture syndrome, Israeli Bedouin type - See Lethal congenital contracture syndrome 2
Multiple cutaneous and uterine leiomyomata - See Hereditary leiomyomatosis and renal cell cancer
Multiple cutaneous leiomyomata - See Hereditary leiomyomatosis and renal cell cancer
Multiple diaphyseal sclerosis - See Ribbing disease
Multiple dysmorphic features and pancytopenia - See Sackey Sakati Aur syndrome
Multiple enchondromatosis - See Ollier disease
Multiple endocrine deficiency syndrome, type 2 - See Autoimmune polyglandular 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) - See Multiple endocrine neoplasia type 2B
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 - See Multiple epiphyseal dysplasia 1
Multiple epiphyseal dysplasia with bilayered patellae - See Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia with clubfoot - See Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia with double-layered patella - See Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia, autosomal recessive - See Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia, MATN3 related - See Multiple epiphyseal dysplasia 5
Multiple exostoses - See Hereditary multiple osteochondromas
Multiple exostoses with spastic tetraparesis - See Spasticity multiple exostoses
Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma
Multiple fibrofolliculoma familial
Multiple hamartoma syndrome - See Cowden syndrome
Multiple joint dislocations metaphyseal dysplasia
Multiple lentigines syndrome - See LEOPARD syndrome
Multiple lipomatosis - See Familial multiple lipomatosis
Multiple mastocytoma - See Cutaneous mastocytoma
Multiple mitochondrial dysfunctions syndrome
Multiple myeloma
Multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects - See Teeth noneruption of with maxillary hypoplasia and genu valgum
Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects - See Stoelinga de Koomen Davis syndrome
Multiple ophthalmic anomalies and digital hypoplasia - See Oculo digital syndrome
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus - See Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Multiple osseous dysplasia, characteristic ear shape, and short stature - See Auriculoosteodysplasia
Multiple pituitary hormone deficiencies, genetic forms - See Combined pituitary hormone deficiencies, genetic forms
Multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome lethal type
Multiple pterygium syndrome nonlethal type - See Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome X-linked
Multiple pterygium syndrome, Aslan type - See Popliteal pterygium syndrome, Bartsocas-Papas type
Multiple respiratory chain enzyme deficiencies
Multiple sclerosis - not a rare disease
Multiple sclerosis, pediatric - See Pediatric multiple sclerosis
Multiple sclerosis-like disorder - See Autosomal dominant leukodystrophy with autonomic disease
Multiple sebaceous cysts - See Steatocystoma multiplex
Multiple self healing squamous epithelioma
Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk - See Birdshot chorioretinopathy
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Multiple synostoses syndrome 1
Multiple synostoses syndrome 2
Multiple system atrophy
Multiple system tauopathy with presenile dementia - See Frontotemporal dementia
Multiplex steatocystoma - See Steatocystoma multiplex
Multisynostotic osteodysgenesis with long bone fractures - See Antley Bixler syndrome
Multisystem inflammatory disease, neonatal-onset - See Chronic Infantile Neurological Cutaneous Articular syndrome
Multisystemic smooth muscle dysfunction syndrome
Mulvihill-Smith syndrome - See Progeroid short stature with pigmented nevi
Mumps
Munchausen by proxy syndrome
Munchausen syndrome by proxy - See Munchausen by proxy syndrome
Mungan syndrome
MURCS association
Murine typhus - See Typhus
Murk Jansen type metaphyseal chondrodysplasia - See Jansen type metaphyseal chondrodysplasia
Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death - See Crisponi syndrome
Muscle core disease - See Central core disease
Muscle eye brain disease
Muscle glycogen phosphorylase deficiency - See Glycogen storage disease type 5
Muscle glycogen synthase deficiency - See Glycogen storage disease type 0, muscle
Muscle phosphofructokinase deficiency - See Glycogen storage disease type 7
Muscle phosphoglycerate mutase deficiency - See Phosphoglycerate mutase deficiency
Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities - See Satoyoshi syndrome
Muscle-eye-brain disease - See Muscle eye brain disease
Muscle-liver-brain-eye nanism - See Mulibrey Nanism
Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
Muscular atrophy, infantile - See Spinal muscular atrophy 1
Muscular atrophy, juvenile - See Spinal muscular atrophy type 3
Muscular atrophy, spinal, infantile chronic form - See Spinal muscular atrophy type 2
Muscular atrophy, spinal, intermediate type - See Spinal muscular atrophy type 2
Muscular central core disease - See Central core disease
Muscular dystrophy
Muscular dystrophy Hutterite type - See Limb-girdle muscular dystrophy type 2H
Muscular dystrophy limb girdle type 2A, Erb type
Muscular dystrophy limb-girdle type 2H - See Limb-girdle muscular dystrophy type 2H
Muscular dystrophy limb-girdle with alpha-sarcoglycan - See Limb-girdle muscular dystrophy, type 2D
Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency - See Limb-girdle muscular dystrophy type 2E
Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency - See Limb-girdle muscular dystrophy type 2F
Muscular dystrophy pseudohypertrophic progressive, Becker type - See Becker muscular dystrophy
Muscular dystrophy white matter spongiosis
Muscular dystrophy, Becker type - See Becker muscular dystrophy
Muscular dystrophy, benign congenital - See Bethlem myopathy
Muscular dystrophy, congenital progressive, with mental retardation - See Fukuyama type muscular dystrophy
MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY - See Congenital muscular dystrophy
Muscular dystrophy, congenital, due to ITGA7 deficiency - See Congenital muscular dystrophy
Muscular dystrophy, congenital, Fukuyama type - See Fukuyama type muscular dystrophy
Muscular dystrophy, congenital, infantile with cataract and hypogonadism
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED - See Congenital muscular dystrophy
Muscular dystrophy, congenital, megaconial type
Muscular dystrophy, congenital, merosin positive with early spine rigidity - See Rigid spine syndrome
Muscular dystrophy, congenital, merosin-deficient - See Congenital muscular dystrophy type 1A
Muscular dystrophy, congenital, merosin-positive
Muscular dystrophy, congenital, with central nervous system involvement - See Fukuyama type muscular dystrophy
Muscular dystrophy, distal, late onset, autosomal recessive - See Miyoshi myopathy
Muscular dystrophy, Duchenne - See Duchenne muscular dystrophy
Muscular dystrophy, Duchenne-like - See Limb-girdle muscular dystrophy, type 2C
Muscular dystrophy, facioscapulohumeral - See Facioscapulohumeral muscular dystrophy
Muscular dystrophy, facioscapulohumeral, type 1a - See Facioscapulohumeral muscular dystrophy
Muscular dystrophy, limb-girdle, type 1F - See Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, type 1H - See Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, type 2G - See Limb-girdle muscular dystrophy, type 2G
Muscular dystrophy, limb-girdle, type 2J - See Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, type 2L - See Limb-girdle muscular dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P - See Limb-girdle muscular dystrophy type 1A
Muscular dystrophy, limb-girdle, type 2Q - See Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, type 2S - See Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, type 3 - See Limb-girdle muscular dystrophy type 2B
Muscular dystrophy, limb-girdle, type IC - See Limb-girdle muscular dystrophy
Muscular dystrophy, oculogastrointestinal - See Familial visceral myopathy with external ophthalmoplegia
Muscular dystrophy, oculopharyngeal - See Oculopharyngeal muscular dystrophy
Muscular dystrophy, pelvofemoral - See Limb-girdle muscular dystrophy type 2A
Muscular dystrophy, proximal, type 1A - See Limb-girdle muscular dystrophy type 1A
Muscular dystrophy, proximal, type 1B - See Limb-girdle muscular dystrophy type 1B
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type - See Duchenne muscular dystrophy
Muscular dystrophy, tardive Emery-Dreifuss type, with contractures - See Emery-Dreifuss muscular dystrophy, X-linked
Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures - See Emery-Dreifuss muscular dystrophy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 - See Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 - See Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 - See Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 - See Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 - See Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 - See Limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 - See Limb-girdle muscular dystrophy type 1A
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 - See Muscle eye brain disease
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED - See Limb-girdle muscular dystrophy type 1A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED - See Limb-girdle muscular dystrophy
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED - See Limb-girdle muscular dystrophy
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED - See Limb-girdle muscular dystrophy
Muscular fibrosis multifocal obstructed vessels
Muscular phosphorylase kinase deficiency
Musculocontractural EDS - See Musculocontractural Ehlers-Danlos syndrome
Musculocontractural Ehlers-Danlos syndrome
Mutagen sensitivity
Mutchinick syndrome - See Intellectual deficit Buenos-Aires type
Mutilating keratoderma - See Vohwinkel syndrome
MVA - See Mevalonic aciduria
MVA syndrome - See Mosaic variegated aneuploidy syndrome
MVP - See Mitral valve prolapse, familial, X-linked
MWS - See Marden-Walker syndrome
Myalgic encephalomyelitis - not a rare disease
Myasthenia familial infantile - See Congenital myasthenic syndrome with episodic apnea
Myasthenia gravis
Myasthenia gravis congenital
Myasthenia gravis familial infantile 2 (formerly) - See Congenital myasthenic syndrome with episodic apnea
Myasthenia gravis pseudoparalytica - See Myasthenia gravis congenital
Myasthenia gravis, limb-girdle
Myasthenia, limb-girdle, autoimmune - See Myasthenia gravis, limb-girdle
Myasthenic syndrome congenital associated with episodic apnea - See Congenital myasthenic syndrome with episodic apnea
Myasthenic syndrome of Lambert-Eaton - See Lambert Eaton myasthenic syndrome
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency - See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, postsynaptic slow-channel - See Slow-channel congenital myasthenic syndrome
Myasthenic syndrome, congenital, slow-channel - See Slow-channel congenital myasthenic syndrome
Myasthenic syndrome, congenital, type IIa - See Slow-channel congenital myasthenic syndrome
Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea - See Congenital myasthenic syndrome with episodic apnea
Myasthenic-Myopathic syndrome of Lambert-Eaton - See Lambert Eaton myasthenic syndrome
Mycetoma
Mycobacterial disease, Mendelian susceptibility to - See Atypical mycobacteriosis, familial
Mycobacterium Abscessus
Mycobacterium Abscessus infection - See Mycobacterium Abscessus
Mycobacterium Avium - See Mycobacterium Avium Complex
Mycobacterium Avium Complex
Mycobacterium Avium-Intracellulare - See Mycobacterium Avium Complex
Mycobacterium Avium-Intracellulare infection - See Mycobacterium Avium Complex
Mycobacterium Chelonae
Mycobacterium Chelonae infection - See Mycobacterium Chelonae
Mycobacterium fortuitum
Mycobacterium Fortuitum infection - See Mycobacterium fortuitum
Mycobacterium Gordonae
Mycobacterium Gordonae infection - See Mycobacterium Gordonae
Mycobacterium Kansasii
Mycobacterium Kansasii infection - See Mycobacterium Kansasii
Mycobacterium Malmoense
Mycobacterium Malmoense infection - See Mycobacterium Malmoense
Mycobacterium Marinum
Mycobacterium Marinum infection - See Mycobacterium Marinum
Mycobacterium tuberculosis, susceptibility to infection by
Mycobacterium Xenopi
Mycobacterium Xenopi infection - See Mycobacterium Xenopi
Mycoplasmal pneumonia
Mycosis fungoides
MYD88 deficiency
Myelinosis centralis diffusa - See Leukoencephalopathy with vanishing white matter
Myelitis
Myelocerebellar disorder
Myelocytic leukemia-like syndrome, familial, chronic
myelodysplasia - See Myelodysplastic syndromes
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy - See MIRAGE syndrome
Myelodysplastic Syndrome With Excess Blasts
Myelodysplastic syndromes
Myelodysplastic/myeloproliferative disease
Myelodysplastic/myeloproliferative neoplasm - See Myelodysplastic/myeloproliferative disease
Myelofibrosis
Myeloid leukemia
Myeloid leukemia - See Myeloid leukemia
Myeloid metaplasia - See Myelofibrosis
Myeloid proliferations related to Down syndrome - See Acute myeloid leukemia
Myeloid sarcoma
Myeloid splenomegaly
Myeloma - multiple - See Multiple myeloma
Myelomatosis - See Multiple myeloma
Myelomeningocele
Myeloperoxidase deficiency
MYH7-related late-onset scapuloperoneal muscular dystrophy - See MYH7-related scapuloperoneal myopathy
MYH7-related late-onset scapuloperoneal syndrome - See MYH7-related scapuloperoneal myopathy
MYH7-related late-onset SPMD - See MYH7-related scapuloperoneal myopathy
MYH7-related scapuloperoneal myopathy
MYH9 related disorders - See MYH9 related thrombocytopenia
MYH9 related thrombocytopenia
MYH-associated polyposis
Myhre syndrome
MYMY - See Moyamoya disease
Myoadenylate deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
Myocardial calcifications resulting in intrauterine fetal death - See Cardiomyopathy, fatal fetal, due to myocardial calcification
Myocardial tumors (rhabdomyomas and fibromas) - See Heart tumor
Myocarditis
Myoclonic astatic epilepsy - See Epilepsy with myoclonic-atonic seizures
Myoclonic dystonia - See Myoclonus-dystonia
Myoclonic epilepsy associated with ragged red fibers - See Myoclonic epilepsy with ragged red fibers
Myoclonic epilepsy of Lafora - See Lafora disease
Myoclonic epilepsy of Unverricht and Lundborg - See Unverricht-Lundborg disease
Myoclonic epilepsy with choreoathetosis - See Dentatorubral-pallidoluysian atrophy
Myoclonic epilepsy with ragged red fibers
Myoclonic epilepsy, juvenile, 1 - See Juvenile myoclonic epilepsy
Myoclonic epilepsy, severe, of infancy - See Dravet syndrome
Myoclonic nystagmus - See Nystagmus, myoclonic
Myoclonus and ataxia - See Dyssynergia cerebellaris myoclonica
Myoclonus cerebellar ataxia deafness
Myoclonus cherry red spot syndrome - See Sialidosis type I
Myoclonus epilepsy
Myoclonus epilepsy partial seizure
Myoclonus hereditary progressive distal muscular atrophy
Myoclonus progressive epilepsy of Unverricht and Lundborg - See Unverricht-Lundborg disease
Myoclonus, hereditary essential - See Myoclonus-dystonia
Myoclonus-cerebellar ataxia-deafness syndrome - See Myoclonus cerebellar ataxia deafness
Myoclonus-dystonia
Myoclonus-dystonia syndrome - See Myoclonus-dystonia
Myodystrophia fetalis deformans - See Arthrogryposis multiplex congenita
Myoencephalopathy ragged-red fiber disease - See Myoclonic epilepsy with ragged red fibers
Myoepithelial carcinoma
Myoepithelioma carcinoma - See Myoepithelial carcinoma
Myofibrillar lysis
Myofibrillar myopathy
Myofibrillar myopathy with early respiratory failure - See Hereditary proximal myopathy with early respiratory failure
Myoglobinuria dominant form
Myoglobinuria recurrent
Myokymia with neonatal epilepsy
Myoneurogastrointestinal encephalopathy syndrome - See Mitochondrial neurogastrointestinal encephalopathy syndrome
Myopathic carnitine deficiency
Myopathy congenital
Myopathy distal, type 1 - See Laing distal myopathy
Myopathy due to myoadenylate deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
Myopathy due to phosphoglycerate mutase deficiency - See Phosphoglycerate mutase deficiency
Myopathy mitochondrial cataract
Myopathy with cataract and combined respiratory-chain deficiency - See Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles - See Inclusion body myopathy 3
Myopathy with extrapyramidal signs
Myopathy with lactic acidosis and sideroblastic anemia - See Sideroblastic anemia and mitochondrial myopathy
Myopathy with lobulated fibers - See Trabecular myopathy
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset - See Early-onset myopathy, areflexia, respiratory distress and dysphagia
Myopathy, benign congenital, with contractures - See Bethlem myopathy
Myopathy, central core - See Central core disease
Myopathy, central fibrillar - See Central core disease
Myopathy, Centronuclear, 1 - See Autosomal dominant centronuclear myopathy
Myopathy, Centronuclear, 2 - See Autosomal recessive centronuclear myopathy
Myopathy, centronuclear, autosomal recessive - See Autosomal recessive centronuclear myopathy
Myopathy, congenital nonprogressive with Moebius and Robin sequences - See Carey-Fineman-Ziter syndrome
Myopathy, congenital with fiber-type disproportion - See Congenital fiber type disproportion
Myopathy, distal, 2 - See Distal myopathy with vocal cord weakness
Myopathy, lactic acidosis and sideroblastic anemia - See Sideroblastic anemia and mitochondrial myopathy
Myopathy, limb-girdle, with bone fragility
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Myopathy, proximal, with early respiratory muscle involvement - See Hereditary proximal myopathy with early respiratory failure
Myopathy, tubular aggregate - See Tubular aggregate myopathy
Myopathy, X-linked, with excessive autophagy - See X-linked myopathy with excessive autophagy
Myopathy-Moebius-Robin syndrome - See Carey-Fineman-Ziter syndrome
Myophosphorylase deficiency - See Glycogen storage disease type 5
Myopia 6
Myopia retinal detachment encephalocele - See Knobloch syndrome
Myopia, susceptibility to - See Myopia 6
Myopia-night blindness - See X-linked congenital stationary night blindness
Myosin heavy chain diseases - Another name for Myosinopathies
Myosin storage myopathy
Myosinopathies
Myositis - See Idiopathic inflammatory myopathy
Myositis ossificans progressiva - See Fibrodysplasia ossificans progressiva
Myostatin-related muscle hypertrophy
Myotilinopathy (type) - See Myofibrillar myopathy
Myotonia atrophica
Myotonia atrophica - See Myotonic dystrophy
Myotonia congenita
Myotonia congenita intermittens - See Paramyotonia congenita
Myotonia congenita, acetazolamide-responsive - See Potassium aggravated myotonia
Myotonia congenita, atypical - See Potassium aggravated myotonia
Myotonia dystrophica - See Myotonic dystrophy
Myotonia fluctuans - See Potassium aggravated myotonia
Myotonia permanens - See Potassium aggravated myotonia
Myotonia-intellectual disability-skeletal anomalies syndrome - See Richieri Costa Da Silva syndrome
Myotonic chondrodystrophy - See Schwartz Jampel syndrome
Myotonic dystrophy
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities - See Schwartz Jampel syndrome
Myotonic myopathy with cylindrical spirals - See Cylindrical spirals myopathy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies - See Schwartz Jampel syndrome
Myotonic myopathy, proximal - See Myotonic dystrophy type 2
Myotubular Myopathy, Autosomal Dominant - See Autosomal dominant centronuclear myopathy
MYP6 - See Myopia 6
Myxoid liposarcoma
Myxoid/round cell liposarcoma - See Myxoid liposarcoma
Myxoliposarcoma - See Myxoid liposarcoma
Myxoma - spotty pigmentation - endocrine overactivity - See Carney complex
Myxoma, spotty pigmentation, and endocrine overactivity - See Carney complex
Myxoma-spotty pigmentation-endocrine overactivity syndrome - See Carney complex
Myxomatous valvular disease, familial - See Mitral valve prolapse, familial, X-linked
Myxomatous valvular dystrophy, X-linked - See Cardiac valvular dysplasia, X-linked
Myxopapillary ependymoma
Myxosporea - See Myxozoa
Myxozoa
MZL - See Marginal zone lymphoma