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.

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• 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 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
• Macrocephaly cutis marmorata telangiectatica congenita - See Macrocephaly-capillary malformation
• 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, mental retardation, short stature, spastic paraplegia and CNS malformations
• Macrocephaly-capillary malformation
• 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
• 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
• 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 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
• Madelung's disease - See Madelung disease
• 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
• 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
• Mal de debarquement syndrome - See Mal de debarquement
• 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 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 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 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
• Malignant mesenchymoma - See Malignant mesenchymal tumor
• 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 mullerian 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 Abrikosov's 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 facial clefting syndrome
• Malpuech syndrome - See Malpuech facial clefting 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
• 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 type 1
• 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
• Marfan syndrome type 1 - See 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 hypermobility syndrome
• Marfanoid mental retardation syndrome autosomal
• Marfanoid-craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
• Marfan's disease and familial neuropathy - See Tome Brunet Fardeau syndrome
• Marginal alopecia - See Alopecia areata - not a rare disease
• Marginal glioneuronal heterotopia
• 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 Frias syndrome - See Frias 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 - See MASS syndrome
• MASS syndrome
• 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
• Maternally inherited diabetes and deafness
• Maternally inherited Leigh syndrome - See Mitochondrial DNA-associated Leigh syndrome
• Maternally-inherited chronic progressive external ophthalmoplegia - See Chronic progressive external ophthalmoplegia
• Maternally-inherited CPEO - See Chronic progressive external ophthalmoplegia
• Maternally-inherited progressive external ophthalmoplegia - See Chronic progressive external ophthalmoplegia
• 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, type 2 - See
• Maturity-onset diabetes of the young, type 3 - See
• Maturity-onset diabetes of the young, type 4 - See
• Maturity-onset diabetes of the young, type 5 - See
• Maturity-onset diabetes of the young, type 6 - See
• Maturity-onset diabetes of the young, type 7 - See
• Maturity-onset diabetes of the young, type 8 - See
• Maturity-onset diabetes of the young, type 8, with exocrine dysfunction - See
• Maturity-onset diabetes of the young, type 9 - See
• 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
• MBL deficiency - See Mannose-binding lectin protein deficiency - not a rare disease
• MBS - See Moebius syndrome
• MBS2 (formerly) - See Hereditary congenital facial paresis
• 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
• McAlister-Crane syndrome - See Lethal short-limb dwarfism, McAlister-Crane type
• 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 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
• McGillivray syndrome
• Mcgrath syndrome - See Ectodermal dysplasia skin fragility syndrome
• MCKAT deficiency - See Medium-chain 3-ketoacyl-coa thiolase deficiency
• MCKD - See Medullary cystic kidney disease
• MCKD1 - See Medullary cystic kidney disease 1
• MCKD2 - See Medullary cystic kidney disease 2
• McKusick Kaufman syndrome
• MCL - See Hereditary leiomyomatosis and renal cell cancer
• McLeod neuroacanthocytosis syndrome
• McLeod syndrome - See McLeod neuroacanthocytosis syndrome
• M-CM - See Macrocephaly-capillary malformation
• MCM Deficiency - See Methylmalonyl-Coenzyme A mutase deficiency
• M-CMTC - See Macrocephaly-capillary malformation
• 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 syndromic 7
• MCOPS8 - See Microphthalmia syndromic 8
• MCOPS9 - See Microphthalmia syndromic 9
• MCOR - See Microcoria, congenital
• MCPH - See Autosomal recessive primary microcephaly
• MCPHA - See Amish lethal microcephaly
• McPherson Clemens syndrome
• McPherson Robertson Cammarano syndrome
• MCS - See Miles-Carpenter x-linked mental retardation syndrome
• MCSZ - See
• 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
• MDDGA - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
• MdDS - See Mal de debarquement
• 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 type 2
• Meckel syndrome type 3
• Meconium aspiration syndrome
• MECP2 duplication syndrome
• MED - See Multiple epiphyseal dysplasia
• MED13L haploinsufficiency syndrome - See MED13L syndrome
• MED13L 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 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 Disease - See Medullary cystic kidney disease
• Medullary cystic kidney disease
• Medullary cystic kidney disease 1
• Medullary cystic kidney disease 2
• Medullary cystic kidney disease 2, autosomal dominant - See Medullary cystic kidney disease 2
• Medullary cystic kidney disease, autosomal dominant - See Medullary cystic kidney disease 1
• Medullary paraganglioma - See Pheochromocytoma
• 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 Macrocephaly-capillary malformation
• 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-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 Macrocephaly-capillary malformation
• 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
• 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
• 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
• 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 1 gene - See MN1 - not a rare disease
• Meningioma, spinal
• Meningioma, spine - See Meningioma, spinal
• 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 anophthalmia craniosynostosis
• 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 cataracts calcified pinnae myopathy
• Mental retardation dysmorphism hypogonadism diabetes
• Mental retardation epilepsy
• Mental retardation epilepsy bulbous nose
• Mental retardation gynecomastia obesity X-linked
• Mental retardation hip luxation G6PD variant
• Mental retardation hypocupremia hypobetalipoproteinemia
• Mental retardation hypotonia skin hyperpigmentation
• Mental retardation macrocephaly coarse facies hypotonia
• Mental retardation microcephaly phalangeal facial
• Mental retardation microcephaly unusual facies
• Mental retardation psychosis macroorchidism - See PPM-X syndrome
• Mental retardation short stature deafness genital
• 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 spasticity ectrodactyly
• Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies - See Temtamy preaxial brachydactyly syndrome
• Mental retardation syndrome, Belgian type
• Mental retardation syndrome, Mietens Weber type - See Mietens-Weber syndrome
• Mental retardation unusual facies Ampola type - See Ampola syndrome
• Mental retardation unusual facies Davis Lafer type - See Davis Lafer syndrome
• Mental retardation with optic atrophy, deafness, and seizures - See X-linked mental retardation Gustavson type
• Mental retardation with osteocartilaginous abnormalities - See Coffin-Lowry syndrome
• Mental retardation with patellar hypoplasia and luxation - See Patella hypoplasia mental retardation
• 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 Wolff type
• Mental retardation x-linked 60 (formerly) - See Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
• Mental retardation X-linked dysmorphism
• Mental retardation X-linked severe Gustavson type - See X-linked mental retardation Gustavson type
• Mental retardation X-linked Shashi type - See Mental retardation X-linked syndromic 11
• Mental retardation X-linked Siderius type - See Siderius X-linked mental retardation syndrome
• 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 cerebellar hypoplasia and distinctive facial appearance
• 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, Atkin type - See Mental retardation, X-linked, nonspecific
• Mental retardation X-linked, South African type
• Mental retardation X-linked, Tranebjaerg type seizures and psoriasis - See Tranebjaerg Svejgaard syndrome
• Mental retardation, X-linked Hyde-Forster type - See Plagiocephaly and X-linked mental retardation
• 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, macrocephaly, short stature and craniofacial dysmorphism
• 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, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features - See Plagiocephaly and X-linked mental retardation
• Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair - See Kozlowski-Krajewska syndrome
• Mental retardation, spasticity and transverse limb defects - See Mental retardation spasticity ectrodactyly
• Mental retardation, Stocco dos Santos type - See Stocco dos Santos 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, unusual facies, and intrauterine growth retardation - See Pitt syndrome
• Mental retardation, X-linked 14
• Mental retardation, X-linked nonspecific, type 1 - See Mental retardation, X-linked, nonspecific
• 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 with dysmorphism and cerebral atrophy - See Prieto X-linked mental retardation syndrome
• Mental retardation, X-linked, 21 - See Mental retardation, X-linked, nonspecific
• Mental retardation, X-linked, Hyde-Forster type - See Hyde Forster Mccarthy Berry syndrome
• Mental retardation, X-linked, Lubs type (formerly) - See MECP2 duplication syndrome
• Mental retardation, X-linked, nonspecific
• Mental retardation, X-linked, syndromic 13 - See PPM-X syndrome
• Mental retardation, X-linked, syndromic 2 - See Prieto X-linked mental retardation syndrome
• MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 - See Graham-Cox syndrome
• Mental retardation, X-linked, syndromic 4 - See Miles-Carpenter x-linked mental retardation 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 congenital contractures and low fingertip arches - See Miles-Carpenter x-linked mental retardation syndrome
• Mental retardation, X-linked, with craniofacial dysmorphism - See Hyde Forster Mccarthy Berry syndrome
• Mental retardation, x-linked, with growth retardation, deafness, and microgenitalism - See Mental retardation-hypotonic facies syndrome X-linked, 1
• Mental retardation, X-linked, with gynecomastia and obesity (formerly) - See Wilson-Turner syndrome
• Mental retardation-hypotonic facies syndrome X-linked, 1
• Mental retardation-polydactyly-uncombable hair
• Mental Retradation, X-linked with Growth Delay, Deafness, Microgenitalism - See Juberg Marsidi syndrome
• Menzel type OPCA - See Spinocerebellar ataxia 1
• 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 glomerulopathy
• Mesenteric artery ischemia
• Mesenteric fibromatosis - See Sclerosing mesenteritis
• Mesenteric lipodystrophy - See Sclerosing mesenteritis
• Mesenteric lipogranuloma - See Sclerosing mesenteritis
• Mesenteric panniculitis - See Sclerosing mesenteritis
• Mesenteric vascular disease - See Mesenteric artery ischemia
• 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 with mental retardation
• Mesomelia synostoses - See Mesomelia-synostoses syndrome
• Mesomelia, radial hypoplasia bifid thumb unusual facies - See Brunoni 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 dwarfism, skeletal abnormalities, and ectodermal dysplasia - See Brunoni syndrome
• 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 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 mental retardation conductive deafness
• Metaphyseal dysostosis, conductive hearing loss and mental retardation - See Metaphyseal dysostosis mental retardation conductive deafness
• 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
• Methemoglobinemia due to deficiency of methemoglobin reductase - See NADH cytochrome B5 reductase deficiency
• Methemoglobinemia, beta-globin type
• Methimazole antenatal infection
• Methionine adenosyltransferase deficiency
• Methionine synthase deficiency - See Methylcobalamin deficiency cbl G type
• Methyl mercury antenatal infection
• 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 mutation - See MTHFR gene mutation - not a rare disease
• Methylmalonic acidemia
• 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, 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 cblJ - See Methylmalonic acidemia with homocystinuria, type cblJ
• 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
• Mevalonate kinase deficiency - See Mevalonic aciduria
• 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
• MFT2 - See
• 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
• Michels syndrome
• MICPCH - See X-linked intellectual disability, Najm type
• MICPCH SYNDROME - See X-linked intellectual disability, Najm type
• Micro syndrome - See Warburg micro syndrome
• Microangiopathic hemolytic anemia - See Thrombotic thrombocytopenic purpura, congenital
• Microangiopathic hemolytic anemia, congenital - See Thrombotic thrombocytopenic purpura, congenital
• 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
• 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 seizures mental retardation heart disorders
• Microcephaly sparse hair mental retardation seizures
• 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 Warburg micro syndrome
• Microcephaly, mild mental retardation, short stature, and skeletal anomalies - See Microcephaly cervical spine fusion anomalies
• Microcephaly, postnatal progressive, with seizures and brain atrophy
• Microcephaly, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy and nystagmus - See Silengo Lerone Pelizza syndrome
• Microcephaly, seizures, and developmental delay - See
• Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities - See Microcephaly seizures mental retardation heart disorders
• 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-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
• 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 cataract
• Microphthalmia cataracts radiculomegaly and septal heart defects - See Oculofaciocardiodental syndrome
• Microphthalmia Dermal Aplasia and Sclerocornea syndrome - See Microphthalmia syndromic 7
• Microphthalmia Lenz type - See Lenz microphthalmia syndrome
• Microphthalmia mental deficiency
• 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 7
• 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 syndromic 7
• Microphthalmia, isolated, with cataract - See Microphthalmia cataract
• Microphthalmia-anophthalmia-coloboma spectrum - See Microphthalmia
• 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 severe mental retardation spastic cerebral palsy - See Microphthalmia mental deficiency
• 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
• 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 syndromic 7
• 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
• Midline malformations, multiple, with limb abnormalities and hypopituitarism - See Dincsoy-Salih-Patel syndrome
• 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
• 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
• Mikulicz's disease - See Mikulicz disease
• 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 growth retardation and developmental delay, microcephaly, and a distinctive facial appearance - See Partington Anderson syndrome
• 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
• Miles-Carpenter x-linked mental retardation 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
• 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
• Miosis, congenital - See Microcoria, congenital
• 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 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 Deletion Syndromes
• Mitochondrial DNA depletion syndrome 6 - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive - See Encephalomyopathy
• 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 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
• 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 dysplasia and mental retardation - See Sclerosing bone dysplasia mental retardation
• 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 syndromic 7
• 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
• 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
• MN1 - not a rare disease
• 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
• MODY glucokinase-related - See
• MODY hepatocyte nuclear factor-1-alpha related - See
• MODY HNF4A related - See
• MODY insulin promoter factor-1 related - See
• MODY KLF11 related - See
• MODY NEUROD1 related - See
• MODY PAX4 related - See
• MODY type 1 - See
• MODY type 2 - See
• MODY type 4 - See
• MODY type 5 - See
• MODY type 6 - See
• MODY type 7 - See
• MODY type 9 - See
• MODY1 - See
• MODY2 - See
• MODY3 - See
• MODY4 - See
• MODY5 - See
• MODY6 - See
• MODY7 - See
• MODY8 - See
• MODY9 - See
• Moebius axonal neuropathy hypogonadism
• Moebius sequence - See Moebius syndrome
• Moebius sequence, Robin complex, and hypotonia - See Congenital nonprogressive myopathy with Moebius and Robin sequences
• 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
• Moeschler Clarren syndrome - See Microsomia hemifacial radial defects
• 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
• Mollica syndrome - See Dwarfism, mental retardation and eye abnormality
• Mollica-Pavone-Antener syndrome - See Dwarfism, mental retardation and eye abnormality
• 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 13q - See Chromosome 13q deletion
• Monosomy 14q - See Chromosome 14q deletion
• Monosomy 15q - See Chromosome 15q deletion
• Monosomy 15q11.2 - See 15q11.2 microdeletion
• 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 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 Proximal chromosome 18q deletion syndrome
• Monosomy 18q syndrome - See Distal 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 2q - See Chromosome 2q deletion
• Monosomy 2q23.1 - See 2q23.1 microdeletion syndrome
• Monosomy 2q24 - See Chromosome 2q24 microdeletion syndrome
• Monosomy 3p - See Chromosome 3p deletion
• Monosomy 3pter - See Chromosome 3p- syndrome
• Monosomy 3q - See Chromosome 3q deletion
• 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 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
• Moore Federman syndrome - See Dwarfism stiff joint ocular abnormalities
• 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
• Morillo-Cucci-Passarge syndrome
• MORM syndrome
• Morphea
• Morquio A disease - See Mucopolysaccharidosis type IVA
• 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
• Motor neuro-ophthalmic disorders - See Ocular motility 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
• Mowat-Wilson syndrome
• Moyamoya disease
• Moyamoya disease 1 - See Moyamoya disease
• Moyamoya disease 2 - See Moyamoya disease
• Moyamoya disease 3 - See Moyamoya disease
• Moyamoya disease, primary - See Moyamoya disease
• Moyamoya disease, secondary - See 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) - See MPDU1-CDG (CDG-If)
• 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)
• MPI-CDG (CDG-Ib) - See 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
• 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
• 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 disease type D
• 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
• MRX21 - See Mental retardation, X-linked, nonspecific
• MRX60 (formerly) - See Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
• MRXHF1 - See Mental retardation-hypotonic facies syndrome X-linked, 1
• MRXS Christianson - See Christianson syndrome
• MRXS1 - See Partington syndrome
• MRXS11 - See Mental retardation X-linked syndromic 11
• MRXS13 - See PPM-X syndrome
• MRXS2 - See Prieto X-linked mental retardation syndrome
• MRXS3 - See Renpenning syndrome 1
• MRXS4 - See Miles-Carpenter x-linked mental retardation syndrome
• 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 Siderius X-linked mental retardation syndrome
• 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
• MSBD with MR - See Sclerosing bone dysplasia mental retardation
• MSD - See Multiple sulfatase deficiency
• Mseleni joint disease - See Handigodu disease - not a rare disease
• MSM syndrome - See Morgagni-Stewart-Morel syndrome
• MSMD - See Atypical mycobacteriosis, familial
• MSMD - See Mendelian susceptibility to mycobacterial diseases
• 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
• MTDPS6 - See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MTHFR gene mutation - not a rare disease
• MTP deficiency - See Abetalipoproteinemia
• MTS - See Mohr-Tranebjaerg syndrome
• Mucha-Habermann disease - See Pityriasis lichenoides et varioliformis acuta
• Mucinous adenocarcinoma - See Adenocarcinoma of the appendix
• Mucinous carcinoid - See Goblet cell carcinoid
• Muckle Wells syndrome - See Muckle-Wells syndrome
• Muckle-Wells syndrome
• Mucocutaneous exfoliative disease - See Toxic epidermal necrolysis
• 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
• Mucopoly-saccharidosis type 3A - See Mucopolysaccharidosis type IIIA
• Mucopoly-saccharidosis type 3B - See Mucopolysaccharidosis type IIIB
• 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 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, biotin responsive
• Multiple carboxylase deficiency, propionic acidemia
• 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, growth failure and cleft lip palate
• 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 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 2 - See
• 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 DNA deletion syndrome - Another name for Mitochondrial DNA Deletion Syndromes
• Multiple mitochondrial dysfunctions syndrome
• Multiple mtDNA deletion syndrome - Another name for Mitochondrial DNA Deletion Syndromes
• 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 pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Multiple pterygium syndrome Aslan 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 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 - See Madelung disease
• Multiple synostoses syndrome 1
• Multiple synostoses syndrome 2
• Multiple system atrophy
• Multiple system tauopathy with presenile dementia - See Frontotemporal dementia
• Multiple vertebral anomalies unusual facies
• 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
• Muscular dystrophy, congenital, due to ITGA7 deficiency - See
• Muscular dystrophy, congenital, Fukuyama type - See Fukuyama type muscular dystrophy
• Muscular dystrophy, congenital, infantile with cataract and hypogonadism
• MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED - See
• 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
• Muscular dystrophy, limb-girdle, type 1H - See
• Muscular dystrophy, limb-girdle, type 2G - See Limb-girdle muscular dystrophy, type 2G
• Muscular dystrophy, limb-girdle, type 2J - See
• Muscular dystrophy, limb-girdle, type 2L - See
• MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P - See
• Muscular dystrophy, limb-girdle, type 2Q - See
• Muscular dystrophy, limb-girdle, type 2S - See
• Muscular dystrophy, limb-girdle, type 3 - See Limb-girdle muscular dystrophy, type 2B
• Muscular dystrophy, limb-girdle, type IC - See
• 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
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 - See
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 - See
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 - See
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 - See
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 - See Limb-girdle muscular dystrophy type 2I
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 - See
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED - See
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED - See
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED - See
• MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED - See
• Muscular fibrosis multifocal obstructed vessels
• Muscular phosphorylase kinase deficiency
• Mutagen sensitivity
• Mutchinick syndrome - See Intellectual deficit Buenos-Aires type
• Mutilating keratoderma - See Vohwinkel syndrome
• Mutiple parosteal osteochondromatous proliferations
• 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, postsynaptic, associated with acetylcholine receptor deficiency - See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
• Myasthenic syndrome, congenital, slow-channel - See Slow-channel congenital myasthenic syndrome
• Myasthenic syndrome, congenital, type id - See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
• 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, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy - See MIRAGE syndrome
• Myelodysplastic syndromes
• Myelodysplastic/myeloproliferative disease
• Myelodysplastic/myeloproliferative neoplasm - See Myelodysplastic/myeloproliferative disease
• Myelofibrosis
• Myeloid leukemia - See Myeloid leukemia
• Myeloid leukemia
• Myeloid metaplasia - See Myelofibrosis
• Myeloid proliferations related to Down syndrome - See
• 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
• 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
• 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 growth and mental retardation hypospadias
• 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 Congenital nonprogressive myopathy with Moebius and Robin sequences
• 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
• Myopathy, tubular aggregate - See Tubular aggregate myopathy
• Myopathy, X-linked, with excessive autophagy - See X-linked myopathy with excessive autophagy
• 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 - See Fibrodysplasia ossificans progressiva
• 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 autosomal dominant
• Myotonia congenita autosomal recessive
• 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 generalized - See Myotonia congenita autosomal recessive
• Myotonia mental retardation skeletal anomalies
• Myotonia permanens - See Potassium aggravated myotonia
• 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