Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.
M 1/2
- M hemoglobinopathy - See Methemoglobinemia, beta-globin type
- M. Abscessus - See Mycobacterium Abscessus
- M. Chelonae - See Mycobacterium Chelonae
- M. Fortuitum - See Mycobacterium fortuitum
- M. Gordonae - See Mycobacterium Gordonae
- M. Kansasii - See Mycobacterium Kansasii
- M. Malmoense - See Mycobacterium Malmoense
- M. Marinum - See Mycobacterium Marinum
- M. Xenopi - See Mycobacterium Xenopi
- M/SCHAD - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- M-A - See Microtia-Anotia
- MAA (formerly) - See Lenz microphthalmia syndrome
- MAA2 (formerly) - See Oculofaciocardiodental syndrome
- Mac Dermot Winter syndrome
- Mac Duffie hypocomplementemic urticarial vasculitis - See Hypocomplementemic urticarial vasculitis
- Mac Duffie syndrome - See Hypocomplementemic urticarial vasculitis
- MAC spectrum - See Microphthalmia
- Maccario Mena Weir syndrome - See Neuroaxonal dystrophy renal tubular acidosis
- Macdermot-Winter syndrome - See Mac Dermot Winter syndrome
- Machado-Joseph disease - See Spinocerebellar ataxia 3
- Macias Flores-Garcia Cruz-Rivera syndrome - See X-linked congenital generalized hypertrichosis
- Macias-Flores Garcia-Cruz Rivera syndrome - See X-linked congenital generalized hypertrichosis
- MacKay Shek Carr syndrome - See Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
- Macrencephaly - See Hemimegalencephaly
- Macrocephalic sperm head syndrome - See Macrozoospermia
- Macrocephaly cutis marmorata telangiectatica congenita - See Megalencephaly-capillary malformation syndrome
- Macrocephaly mesodermal hamartoma spectrum
- Macrocephaly multiple lipomas and hemangiomata - See Bannayan-Riley-Ruvalcaba syndrome
- Macrocephaly pseudopapilledema and multiple hemangiomas - See Bannayan-Riley-Ruvalcaba syndrome
- Macrocephaly short limbs deafness - See Bagatelle Cassidy syndrome
- Macrocephaly, benign familial
- Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia - See Fucosidosis type 1
- Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay - See Bagatelle Cassidy syndrome
- Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism - See Smith-Kingsmore syndrome
- Macrocephaly-capillary malformation - See Megalencephaly-capillary malformation syndrome
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - See Smith-Kingsmore syndrome
- Macrocephaly-short stature-paraplegia syndrome
- Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus) - See MOMO syndrome
- Macrocystic lymphatic malformation - See Cystic hygroma
- Macrodactyly of the foot
- Macrodactyly of the hand
- Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- Macroepiphyseal dysplasia, McAlister Coe type - See Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- Macroglobulinemia of Waldenstrom - See Waldenstrom macroglobulinemia
- Macroglossia
- Macrogyria - See Pachygyria
- Macrogyria, pseudobulbar palsy and mental retardation - See Kuzniecky Andermann syndrome
- Macromastia - See Gigantomastia
- Macrophage activation syndrome
- Macrophagic myofasciitis
- Macrophagic myofasciitis, childhood - See Macrophagic myofasciitis
- Macrosomia microphthalmia cleft palate - See Macrosomia with lethal microphthalmia
- Macrosomia with lethal microphthalmia
- Macrosomia, obesity, macrocephaly, ocular abnormalities - See MOMO syndrome
- Macrothrombocytopenia progressive deafness
- Macrothrombocytopenia, familial Bernard-Soulier type - See Giant platelet syndrome
- Macrozoospermia
- Macular coloboma - See Coloboma of macula
- Macular corneal dystrophy type 1 - See Macular dystrophy, corneal type 1
- Macular degeneration - not a rare disease
- Macular degeneration, polymorphic vitelline - See Best vitelliform macular dystrophy
- Macular dystrophy retinal 1 North Carolina type - See North Carolina macular dystrophy
- Macular dystrophy, atypical vitelliform
- Macular dystrophy, butterfly-shaped pigmentary - See Patterned dystrophy of retinal pigment epithelium
- Macular dystrophy, concentric annular
- Macular dystrophy, corneal type 1
- Macular dystrophy, hemorrhagic - See Fundus dystrophy, pseudoinflammatory, of Sorsby
- Macular dystrophy, vitelliform, adult-onset - See Adult-onset vitelliform macular dystrophy
- Macular telangiectasia type 2 - not a rare disease
- Macules hereditary congenital hypopigmented and hyperpigmented
- Maculopapular cutaneous mastocytosis - not a rare disease
- Maculopathy, bull's eye - See Macular dystrophy, concentric annular
- MAD - See Mandibuloacral dysplasia
- MAD - See Metaphyseal anadysplasia
- MAD - See Adrenomyodystrophy
- MADA - See Mandibuloacral dysplasia with type A lipodystrophy
- MADB - See Mandibuloacral dysplasia with type B lipodystrophy
- MADD - See Glutaric acidemia type II
- Madelung deformity
- Madelung disease - See Multiple symmetric lipomatosis
- Madelung's disease - See Multiple symmetric lipomatosis
- Madokoro Ohdo Sonoda syndrome
- Madras motor neuron disease - not a rare disease
- MADSAM - See Lewis-Sumner syndrome
- Madura foot - See Mycetoma
- Mae infertility due to round-headed spermatozoa - See Globozoospermia
- Maeda syndrome - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Maffucci syndrome
- Maghrebian myopathy - See Limb-girdle muscular dystrophy, type 2C
- MAGIC syndrome
- Magnesium loss, isolated renal - See Renal hypomagnesemia 2
- Magnesium wasting, renal - See Renal hypomagnesemia 2
- MAHCJ - See Methylmalonic acidemia with homocystinuria type cblJ
- Mahvash disease
- MAI - See Mycobacterium Avium Complex infections
- Mainzer Saldino syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
- MAIS - See Androgen insensitivity syndrome, mild
- Majeed syndrome
- Majewski osteodysplastic primordial dwarfism type II - See Microcephalic osteodysplastic primordial dwarfism type 2
- Majewski syndrome - See Short rib-polydactyly syndrome type 2
- Major affective disorder - See Bipolar disorder - not a rare disease
- Major Aphthous Ulcer - See Sutton disease 2
- Major Canker Sore - See Sutton disease 2
- Major histocompatibility complex class 1 deficiency - See MHC class 1 deficiency
- Mal de debarquement - See Mal de debarquement syndrome
- Mal de debarquement syndrome
- Mal de Meleda - See Meleda disease
- Mal de Naxos - See Naxos disease
- Mal del Pinto - See Pinta
- Malacoplakia - See Malakoplakia
- Malakoplakia
- Malaria
- Malayi tropical eosinphilia - See Lymphatic filariasis
- Male breast cancer - See Breast cancer, male
- Male breast carcinoma - See Breast cancer, male
- Male hypergonadotropic hypogonadism due to LHCGR defect - See Leydig cell hypoplasia
- Male infertility due to globozoospermia - See Globozoospermia
- Male infertility due to large-headed multiflagellar polyploid spermatozoa - See Macrozoospermia
- Male infertility due to macrozoospermia - See Macrozoospermia
- Male infertility due to round-headed spermatozoa - See Globozoospermia
- MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA - See Macrozoospermia
- Male infertility with spermatogenesis disorder - not a rare disease
- Male infertility with spermatogenesis disorder due to single gene mutation
- Male infertility with teratozoospermia due to single gene mutation - not a rare disease
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency - See 5-alpha reductase deficiency
- Male pseudohermaphroditism due to defective LH molecule
- Male pseudohermaphroditism due to LH resistance or LHB deficiency - See Leydig cell hypoplasia
- Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency - See Leydig cell hypoplasia
- Male pseudohermaphroditism intellectual disability syndrome, Verloes type
- Male pseudoherma-phroditism with gynecomastia - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
- Male sterility due to Y-chromosome deletions - See Y chromosome infertility
- Male Turner Syndrome - See Noonan syndrome
- Malignant acrospiroma - See Hidradenocarcinoma
- Malignant atrophic papulosis - See Degos disease
- Malignant clear cell acrospiroma - See Hidradenocarcinoma
- Malignant cylindroma
- Malignant eccrine poroma - See Eccrine porocarcinoma
- Malignant eccrine spiradenoma
- Malignant ectomesenchymoma
- Malignant edema - See Anthrax
- Malignant fibrohistiocytic tumors - See Undifferentiated pleomorphic sarcoma
- Malignant fibrous histiocytoma - See Undifferentiated pleomorphic sarcoma
- Malignant germ cell tumor
- Malignant hyperpyrexia - See Malignant hyperthermia
- Malignant hyperpyrexia susceptibility type 2 - See Malignant hyperthermia susceptibility type 2
- Malignant hyperpyrexia susceptibility type 3 - See Malignant hyperthermia susceptibility type 3
- Malignant hyperpyrexia susceptibility type 4 - See Malignant hyperthermia susceptibility type 4
- Malignant hyperpyrexia susceptibility type 5 - See Malignant hyperthermia susceptibility type 5
- Malignant hyperpyrexia susceptibility type 6 - See Malignant hyperthermia susceptibility type 6
- Malignant hyperthermia
- Malignant hyperthermia - arthrogryposis - torticollis - See Malignant hyperthermia arthrogryposis torticollis
- Malignant hyperthermia arthrogryposis torticollis
- Malignant hyperthermia susceptibility type 1
- Malignant hyperthermia susceptibility type 2
- Malignant hyperthermia susceptibility type 3
- Malignant hyperthermia susceptibility type 4
- Malignant hyperthermia susceptibility type 5
- Malignant hyperthermia susceptibility type 6
- Malignant islet cell tumor - See Somatostatinoma
- Malignant Langerhans cell sarcoma - See Langerhans cell sarcoma
- Malignant melanoma of the gastrointestinal tract - See Digestive System Melanoma
- Malignant melanoma, childhood
- Malignant mesenchymal tumor - See Malignant mesenchymoma
- Malignant mesenchymoma
- Malignant mesothelioma
- Malignant migrating partial epilepsy of infancy - See Malignant migrating partial seizures of infancy
- Malignant migrating partial seizures of infancy
- Malignant mixed Mullerian tumor
- Malignant mixed müllerian tumor of corpus uteri - See Uterine Carcinosarcoma
- Malignant mixed Müllerian tumor of the corpus uteri - See Uterine Carcinosarcoma
- Malignant mixed mullerian tumor of the ovary - See Ovarian carcinosarcoma
- Malignant mixed Müllerian tumor of the ovary - See Ovarian carcinosarcoma
- Malignant myoepithelioma - See Myoepithelial carcinoma
- Malignant neoplasms of the small intestine - See Small intestine cancer
- Malignant neurilemmoma - See Malignant peripheral nerve sheath tumor
- Malignant neurofibroma - See Malignant peripheral nerve sheath tumor
- Malignant nodular/clear cell hidradenoma - See Hidradenocarcinoma
- Malignant paroxysmal ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
- Malignant peripheral nerve sheath tumor
- Malignant phyllodes tumor of prostate (subtype) - See Phyllodes tumor of the prostate
- Malignant pustule - See Anthrax
- Malignant rhabdoid tumor - See Rhabdoid tumor
- Malignant schwannoma - See Malignant peripheral nerve sheath tumor
- Malignant Teratocarcinosarcoma
- Malignant tumors of the central nervous system associated with familial polyposis of the colon - See Turcot syndrome
- Malignant variant of Abrikosov's tumor - See Granular cell tumor
- Mallory-Weiss laceration - See Mallory-Weiss syndrome
- Mallory-Weiss syndrome
- Mallory-Weiss tear - See Mallory-Weiss syndrome
- Malonic acidemia - See Malonyl-CoA decarboxylase deficiency
- Malonic aciduria - See Malonyl-CoA decarboxylase deficiency
- Malonicaciduria - See Malonyl-CoA decarboxylase deficiency
- Malonyl-CoA decarboxylase deficiency
- Malouf syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Malpuech-Michels-Mingarelli-Carnevale syndrome - See 3MC syndrome
- MALS - See Celiac artery compression syndrome
- Malta fever - See Brucellosis
- Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies - See Limb-mammary syndrome
- Mammary Paget's disease - See Paget disease of the breast
- Mammary pseudoangiomatous stromal hyperplasia - See Pseudoangiomatous stromal hyperplasia - not a rare disease
- MAN1B1-CDG
- Man5GlcNAc2-PP-Dol flippase deficiency - See RFT1-CDG (CDG-In)
- Mandibular hypoplasia, deafness, progeroid features - See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibular hypoplasia-deafness-progeroid syndrome - See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibular hypoplasia-hearing loss-progeroid syndrome - See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia - See Adrenomyodystrophy
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis - See Treacher Collins syndrome
- Mandibulofacial dysostosis Toriello type - See Branchial arch syndrome X-linked
- Mandibulofacial dysostosis with microcephaly
- Mandibulofacial dysostosis, Guion-Almeida type - See Mandibulofacial dysostosis with microcephaly
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - See Treacher Collins syndrome 3
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies - See Nager acrofacial dysostosis
- Mandibulofacial dysostosis-microcephaly syndrome - See Mandibulofacial dysostosis with microcephaly
- Manic depression - See Bipolar disorder - not a rare disease
- Manic-depressive psychosis - See Bipolar disorder - not a rare disease
- Manitoba oculotrichoanal syndrome
- Manitoba Trichoanal syndrome - See Manitoba oculotrichoanal syndrome
- Mannose-binding lectin protein deficiency - not a rare disease
- Mannose-binding protein deficiency - See Mannose-binding lectin protein deficiency - not a rare disease
- Mannosephosphate isomerase deficiency - See MPI-CDG (CDG-Ib)
- Mannosidosis, alpha B lysosomal - See Alpha-mannosidosis
- Mannosidosis, beta A, lysosomal
- Mannosyltransferase 1 deficiency - See ALG1-CDG (CDG-Ik)
- Mannosyltransferase 2 deficiency - See ALG2-CDG (CDG-Ii)
- Mannosyltransferase 6 deficiency - See ALG3-CDG (CDG-Id)
- Mannosyltransferase 7-9 deficiency - See ALG9-CDG (CDG-IL)
- Mannosyltransferase 8 deficiency - See ALG12-CDG (CDG-Ig)
- Manouvrier syndrome
- Mansonella perstans - See Acanthocheilonemiasis
- Mansonella perstans infections - See Mansonelliasis
- Mansonelliasis
- Mansonellosis - See Mansonelliasis
- Mantle cell lymphoma
- MAP syndrome - See MYH-associated polyposis
- Map-dot-fingerprint dystrophy of cornea - See Epithelial basement membrane corneal dystrophy
- Maple syrup urine disease
- Maple syrup urine disease type 1A
- Maple syrup urine disease type 1B
- Maple syrup urine disease type 2
- Maple syrup urine disease, type III - See Dihydrolipoamide dehydrogenase deficiency
- MAR - See 5q- syndrome
- Marble bone disease - See Osteopetrosis
- Marble bones - See Osteopetrosis
- Marble bones autosomal recessive - See Osteopetrosis autosomal recessive 1
- Marble brain disease - See Osteopetrosis autosomal recessive 3
- Marburg disease - See Marburg hemorrhagic fever
- Marburg hemorrhagic fever
- Marburg variant - See Tumefactive multiple sclerosis
- Marburg virus disease - See Marburg hemorrhagic fever
- Marchiafava Bignami disease
- Marchiafava-Micheli disease - See Paroxysmal nocturnal hemoglobinuria
- Marcus Gunn phenomenon
- Marcus Gunn syndrome - See Marcus Gunn phenomenon
- Marden Walker like syndrome
- Marden Walker like syndrome without psychomotor retardation - See Marden Walker like syndrome
- Marden-Walker syndrome
- Marek disease
- Marek's Disease - See Marek disease
- Marfan syndrome
- Marfanoid craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
- Marfanoid disorder with craniosynostosis type 1 - See Shprintzen-Goldberg craniosynostosis syndrome
- Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies - See Lujan syndrome
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfanoid hypermobility syndrome
- Marfanoid-craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
- Marginal alopecia - See Alopecia areata - not a rare disease
- Marginal glioneuronal heterotopia
- Marginal zone lymphoma
- Mari type Alopecia universalis congenita - See Total Hypotrichosis, Mari type
- Marie Unna congenital hypotrichosis
- Marie Unna hereditary hypotrichosis - See Marie Unna congenital hypotrichosis
- Marie-Sainton disease - See Cleidocranial dysplasia
- Marie-Strumpell spondylitis - See Ankylosing spondylitis - not a rare disease
- Marinesco-Garland Syndrome - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren syndrome
- Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren Syndrome-Myopathy - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren-Garland Syndrome - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren-like syndrome (MSLS)
- Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins - See Gray platelet syndrome
- Markel Vikkula Mulliken syndrome
- Marker X syndrome - See Fragile X syndrome
- Marles syndrome - See Manitoba oculotrichoanal syndrome
- Marles-Greenberg-Persaud syndrome - See Manitoba oculotrichoanal syndrome
- Maroteaux Fonfria syndrome
- Maroteaux Lamy syndrome - See Mucopolysaccharidosis type VI
- Maroteaux Le Merrer Bensahel syndrome - See Carpotarsal osteochondromatosis
- Maroteaux Stanescu Cousin syndrome
- Maroteaux Verloes Stanescu syndrome - See Metaphyseal anadysplasia
- Maroteaux-Malamut syndrome - See Acrodysostosis
- Marphanoid syndrome type De Silva
- Marrow hypoplasia associated with congenital neurologic anomalies - See Drachtman Weinblatt Sitarz syndrome
- Marsden Nyhan Sakati syndrome
- Marsden syndrome - See Leber hereditary optic neuropathy with dystonia
- Marshall syndrome
- Marshall Syndrome - See Periodic fever, aphthous stomatitis, pharyngitis and adenitis
- Marshall-Smith syndrome
- Martin-Bell syndrome - See Fragile X syndrome
- Martinez Monasterio Pinheiro syndrome
- Martsolf syndrome
- MAS - See Meconium aspiration syndrome
- MAS - See McCune-Albright syndrome
- MASA syndrome - See Spastic paraplegia 1
- Mason type diabetes - See Maturity-onset diabetes of the young
- MASS phenotype
- MASS syndrome - See MASS phenotype
- Massa Casaer Ceulemans syndrome
- Massive macronodular adrenocortical disease - See ACTH-independent macronodular adrenal hyperplasia
- Masson's pseudoangiosarcoma - See Intravascular papillary endothelial hyperplasia
- Masson's tumor - See Intravascular papillary endothelial hyperplasia
- Masson's vegetant intravascular hemangio-endothelioma - See Intravascular papillary endothelial hyperplasia
- Mast cell activation syndrome
- Mast cell disease - See Mastocytosis
- Mastocytic enterocolitis
- Mastocytoma - See Cutaneous mastocytosis
- Mastocytosis
- Mastocytosis cutaneous with short stature conductive hearing loss and microtia
- Mastroiacovo De Rosa Satta syndrome
- Mastroiacovo Gambi Segni syndrome
- MAT deficiency - See Methionine adenosyltransferase deficiency
- Maternal hyperphenylalaninemia
- Maternal phenylketonuria - See Maternal hyperphenylalaninemia
- Maternal uniparental disomy of chromosome 14 - See Temple syndrome
- Maternally inherited diabetes and deafness
- Maternally inherited Leigh syndrome - See Mitochondrial DNA-associated Leigh syndrome
- Maternofetal infection by parvovirus - See Parvovirus antenatal infection
- Mathieu-De Broca-Bony syndrome - See Cleft palate short stature vertebral anomalies
- Matsoukas Liarikos Giannika syndrome
- Matthew Wood syndrome - See Microphthalmia syndromic 9
- Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 1 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 2 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 3 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 4 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 6 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 7 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 8 - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 8, with exocrine dysfunction - See Maturity-onset diabetes of the young
- Maturity-onset diabetes of the young, type 9 - See Maturity-onset diabetes of the young
- Maumenee corneal dystrophy - See Corneal endothelial dystrophy type 2
- Maumenee syndrome
- Maxillary double lip
- Maxillofacial dysostosis
- Maxillonasal dysplasia, Binder type
- Maxillopalpebral synkinesis - See Marcus Gunn phenomenon
- May Thurner syndrome - See May-Thurner syndrome
- Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) - See Mullerian aplasia
- May-Hegglin anomaly - See MYH9 related thrombocytopenia
- May-Thurner syndrome
- MBA - See Migraine with brainstem aura
- MBD - See Marchiafava Bignami disease
- MBD25–related intellectual disability
- MBD5 Haploinsufficiency - See MBD25–related intellectual disability
- MBL deficiency - See Mannose-binding lectin protein deficiency - not a rare disease
- MBS - See Moebius syndrome
- MBS2 (formerly) - See Hereditary congenital facial paresis
- MCA due to 14q32.2 maternally expressed gene defect - See Paternal uniparental disomy of chromosome 14
- MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia - See Nguyen syndrome
- MCAD deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
- MCADD - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
- MCADH deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
- MCAHS type 2 - See Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- MCAHS1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
- MCAHS2 - See Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- McAlister Coe Whyte syndrome - See Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- McArdle disease - See Glycogen storage disease type 5
- McArdle type glycogen storage disease - See Glycogen storage disease type 5
- MCAS - See Mast cell activation syndrome
- MCC 1 deficiency - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
- MCC 2 deficiency - See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
- MCC deficiency - See 3-methylcrotonyl-CoA carboxylase deficiency
- Mccabe disease - See Polyostotic osteolytic dysplasia, hereditary expansile
- McCallum Macadam Johnston syndrome
- MCCD - See 3-methylcrotonyl-CoA carboxylase deficiency
- MCCPT1 - See Carnitine palmitoyltransferase I deficiency , muscle
- McCune Albright syndrome - See McCune-Albright syndrome
- McCune-Albright syndrome
- MCD - See Multiple carboxylase deficiency
- MCD - See Multicentric Castleman Disease
- MCD deficiency - See Malonyl-CoA decarboxylase deficiency
- MCDC1 - See Macular dystrophy, corneal type 1
- MCDCA - See Macular dystrophy, concentric annular
- McDonough syndrome
- McDowall syndrome
- MCDR1 - See North Carolina macular dystrophy
- MCDS - See Metaphyseal chondrodysplasia Schmid type
- MCDS - See Metaphyseal chondrodysplasia Spahr type
- McDuffie hypocomplementemic urticarial vasculitis - See Hypocomplementemic urticarial vasculitis
- McDuffie syndrome - See Hypocomplementemic urticarial vasculitis
- mcEDS - See Musculocontractural Ehlers-Danlos syndrome
- McGillivray syndrome
- Mcgrath syndrome - See Ectodermal dysplasia skin fragility syndrome
- MCKAT deficiency - See Medium-chain 3-ketoacyl-coa thiolase deficiency
- MCKD - See Autosomal dominant tubulointerstitial kidney disease
- MCKD1 - See MUC1-related autosomal dominant tubulointerstitial kidney disease
- MCKD2 - See UMOD-related autosomal dominant tubulointerstitial kidney disease
- McKusick Kaufman syndrome
- MCL - See Hereditary leiomyomatosis and renal cell cancer
- McLeod neuroacanthocytosis syndrome
- McLeod syndrome - See McLeod neuroacanthocytosis syndrome
- M-CM - See Megalencephaly-capillary malformation syndrome
- MCM Deficiency - See Methylmalonyl-Coenzyme A mutase deficiency
- M-CMTC - See Megalencephaly-capillary malformation syndrome
- MCNS - See Minimal change disease
- MCOPS1 - See Lenz microphthalmia syndrome
- MCOPS10 - See Microphthalmia syndromic 10
- MCOPS2 - See Oculofaciocardiodental syndrome
- MCOPS3 - See Syndromic microphthalmia, type 3
- MCOPS4 - See Microphthalmia syndromic 4
- MCOPS5 - See Microphthalmia syndromic 5
- MCOPS6 - See Microphthalmia syndromic 6
- MCOPS7 - See Microphthalmia with linear skin defects syndrome
- MCOPS8 - See Microphthalmia syndromic 8
- MCOPS9 - See Microphthalmia syndromic 9
- MCOR - See Congenital microcoria
- MCPH - See Autosomal recessive primary microcephaly
- MCPHA - See Amish lethal microcephaly
- McPherson Clemens syndrome
- McPherson Robertson Cammarano syndrome
- MCSZ - See Early Infantile Epileptic Encephalopathy
- MCTD - See Mixed connective tissue disease
- MCUL - See Hereditary leiomyomatosis and renal cell cancer
- MDB - See Medulloblastoma
- MDC - See Congenital muscular dystrophy
- MDC1A - See Congenital muscular dystrophy type 1A
- MDCL - See Congenital muscular dystrophy
- MDDGA - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- MdDS - See Mal de debarquement syndrome
- MDEBS - See Epidermolysa bullosa simplex with muscular dystrophy
- MD-EBS - See Epidermolysa bullosa simplex with muscular dystrophy
- MDK - See Mesomelic dysplasia Kantaputra type
- MDLS - See Miller-Dieker syndrome
- MDM - See Meleda disease
- MDP syndrome - See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- MDPL syndrome - See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- MDR3 deficiency - See Progressive familial intrahepatic cholestasis type 3
- MDRS1 - See Rigid spine syndrome
- MDS - See Myelodysplastic syndromes
- Meacham Winn Culler syndrome
- Meadows' syndrome - See Peripartum cardiomyopathy
- Measles
- MEB - See Muscle eye brain disease
- Meckel Gruber syndrome - See Meckel syndrome
- Meckel syndrome
- Meckel syndrome 7 - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
- Meckel syndrome type 2
- Meckel syndrome type 3
- Meckel syndrome type 7 - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
- Meckel-like syndrome type 1 - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
- Meconium aspiration syndrome
- MECP2 duplication syndrome
- MED - See Multiple epiphyseal dysplasia
- MED13L haploinsufficiency syndrome
- MED13L syndrome - See MED13L haploinsufficiency syndrome
- MED23
- Medeira-Dennis-Donnai syndrome
- Medial confluence of the breasts - See Symmastia
- Medial Medullary Syndrome
- Median arcuate ligament syndrome - See Celiac artery compression syndrome
- Median cleft face syndrome - See Frontonasal dysplasia
- Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome - See Median cleft of upper lip with polyps of facial skin and nasal mucosa
- Median cleft of upper lip with polyps of facial skin and nasal mucosa
- Median cleft syndrome - See Frontonasal dysplasia
- Median cleft upper lip, mental retardation and pugilistic facies - See Pallister W syndrome
- Median facial cleft syndrome - See Frontonasal dysplasia
- Median fissure of nose - See Bifid nose
- Median nodule of the upper lip
- Mediastinal endodermal sinus tumors
- Mediastinal fibrosis - See Fibrosing mediastinitis
- Mediastinal fibrosis, familial - See Multifocal fibrosclerosis
- Medication-induced gigantomastia (subtype) - See Gigantomastia
- MED-IDDM syndrome - See Epiphyseal dysplasia multiple with early-onset diabetes mellitus
- Mediterranean anemia - See Beta-thalassemia
- Mediterranean Kaposi sarcoma - See Kaposi sarcoma
- Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl CoA dehydrogenase deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medium-chain 3-ketoacyl-coa thiolase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Medrano Roldan syndrome
- Medullary cystic kidney disease 1 (former) - See MUC1-related autosomal dominant tubulointerstitial kidney disease
- Medullary cystic kidney disease 2 (former) - See UMOD-related autosomal dominant tubulointerstitial kidney disease
- Medullary cystic kidney disease type 1 - See MUC1-related autosomal dominant tubulointerstitial kidney disease
- Medullary sponge kidney
- Medullary thyroid cancer (MTC) - See Thyroid cancer, medullary
- Medulloblastoma
- Medulloblastoma, childhood
- Meesman dystrophy - See Meesmann corneal dystrophy
- Meesmann corneal dystrophy
- Meesmann corneal epithelial dystrophy - See Meesmann corneal dystrophy
- Mega cisterna magna (type of DW complex) - See Dandy-Walker complex
- Megaconial congenital muscular dystrophy - See Muscular dystrophy, congenital, megaconial type
- Megaconial congénital muscular dystrophy - See Muscular dystrophy, congenital, megaconial type
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
- Megaduodenum and/or megacystis
- Megaepiphyseal dwarfism
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- Megalencephaly cutis marmorata telangiectatica congenita - See Megalencephaly-capillary malformation syndrome
- Megalencephaly in infancy accompanied by progressive spasticity and dementia - See Alexander disease
- Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- Megalencephaly-capillary malformation syndrome
- Megalencephaly-cystic leukodystrophy - See Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- Megaloblastic anemia 1 - See Imerslund-Grasbeck syndrome
- Megaloblastic anemia due to dihydrofolate reductase deficiency
- Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness - See Thiamine responsive megaloblastic anemia syndrome
- Megalocephaly cutis marmorata telangiectatica congenita - See Megalencephaly-capillary malformation syndrome
- Megalocornea - See Isolated congenital megalocornea
- Megalocornea - spherophakia - secondary glaucoma
- Megalocornea mental retardation syndrome - See Megalocornea-intellectual disability syndrome
- Megalocornea, multiple skeletal anomalies, and developmental delay - See Frank Ter Haar syndrome
- Megalocornea-intellectual disability syndrome
- Megalocytic interstitial nephritis
- Megalodactylism of the foot - See Macrodactyly of the foot
- Megalodactylism of the hand - See Macrodactyly of the hand
- Megalodactyly of the foot - See Macrodactyly of the foot
- Megalodactyly of the hand - See Macrodactyly of the hand
- Megarbane Jalkh syndrome
- Megarbane syndrome
- MEGDEL syndrome
- Mehes syndrome
- MEHMO - See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- MEHMO syndrome - See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- Mehta Lewis Patton syndrome
- Mehtylmalonic acidemia with homocystinuria cbI d - See Methylmalonic acidemia with homocystinuria type cblD
- Meier Blumberg Imahorn syndrome
- Meier-Gorlin syndrome
- Meige disease - See Hereditary lymphedema type II
- Meige dystonia - See Meige syndrome
- Meige lymphedema - See Hereditary lymphedema type II
- Meige syndrome
- Meigel disease
- Meige's syndrome - See Meige syndrome
- Meinecke syndrome
- MEIS2 haploinsufficiency - See Cleft palate, cardiac defects, and intellectual disability
- MEIS2 mutations - See Cleft palate, cardiac defects, and intellectual disability
- Melanocytic lesions of CNS
- Melanoma and neural system tumor syndrome - See Melanoma astrocytoma syndrome
- Melanoma astrocytoma syndrome
- Melanoma of the gastrointestinal tract - See Digestive System Melanoma
- Melanoma of the GI tract - See Digestive System Melanoma
- Melanoma of the Uvea - See Intraocular melanoma
- Melanoma, familial
- Melanoma-associated retinopathy
- Melanoma-pancreatic cancer syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
- Melanosis, neurocutaneous - See Neurocutaneous melanosis
- MELAS - See Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- MELAS syndrome - See Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- Meleda disease
- MELF - See Lafora disease
- Melhem Fahl syndrome
- Melioidosis
- Melkersson syndrome - See Melkersson-Rosenthal syndrome
- Melkersson-Rosenthal syndrome
- Melnick-Fraser syndrome - See Branchiootorenal syndrome
- Melnick-Needles osteodysplasty - See Melnick-Needles syndrome
- Melnick-Needles syndrome
- Melorheostosis
- Melorheostosis with osteopoikilosis
- Meltzer syndrome - See Familial mixed cryoglobulinemia
- Membranoproliferative glomerulonephritis
- Membranoproliferative glomerulonephritis type 2 - See Dense deposit disease
- Membranoproliferative glomerulonephritis type II - See Dense deposit disease
- Membranous glomerulonephritis - See Membranous nephropathy
- Membranous GN - See Membranous nephropathy
- Membranous nephropathy
- Membranous obstruction of the inferior vena cava - See Budd-Chiari syndrome
- Memory loss, extreme sexual behavior, placidity, and visual distractibility - See Kluver Bucy syndrome
- MEN 1 - See Multiple endocrine neoplasia type 1
- MEN 2A - See Multiple endocrine neoplasia type 2A
- MEN 2B - See Multiple endocrine neoplasia type 2B
- MEN1 - See Multiple endocrine neoplasia type 1
- MEN2 - See Multiple endocrine neoplasia type 2
- MEN-2A syndrome - See Multiple endocrine neoplasia type 2A
- Mende Syndrome - See Waardenburg syndrome
- Mendelian susceptibility to atypical mycobacteria - See Mendelian susceptibility to mycobacterial diseases
- Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency - See IL12RB1 deficiency
- Mendelian susceptibility to mycobacterial diseases
- Mendelian susceptibility to mycobacterial diseases - See Mendelian susceptibility to mycobacterial diseases
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - See IL12RB1 deficiency
- Mendelian susceptibility to mycobacterial infections - See Mendelian susceptibility to mycobacterial diseases
- Mendelian susceptibility to mycobacterial infections due to IL12 deficiency - See IL12RB1 deficiency
- Mendenhall Syndrome - See Rabson-Mendenhall syndrome
- Menetrier disease
- Mengel-Konigsmark syndrome - See Conductive deafness with malformed external ear
- Meniere disease - See Ménière's disease - not a rare disease
- Meniere's disease - See Ménière's disease - not a rare disease
- Ménière's disease - not a rare disease
- Meningeal capillary angiomatosis - See Sturge-Weber syndrome
- Meningeal syphilis - See Syphilitic aseptic meningitis
- Meningioma
- Meningioma, spine - See Spinal meningioma
- Meningitis, bacterial - See Bacterial meningitis
- Meningitis, neonatal - See Neonatal meningitis
- Meningitis, syphilitic - See Syphilitic aseptic meningitis
- Meningocele
- Meningococcal disease - See Neisseria meningitidis infection
- Meningococcal infection
- Meningococcemia
- Meningoencephalitis caused by Naegleria fowleri - See Primary amebic meningoencephalitis
- Meningoencephalocele
- Meningoencephalocele, arthrogryposis and hypoplastic thumbs - See Podder-Tolmie syndrome
- Meningomyelocele - See Myelomeningocele
- Menkea syndrome - See Menkes disease
- Menkes disease
- Menkes syndrome - See Menkes disease
- Mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity - See Van Den Bosch syndrome
- Mental deficiency, epilepsy and endocrine disorders - See Borjeson-Forssman-Lehmann syndrome
- Mental retardation , X-linked with seizures, short stature and midface hypoplasia - See X-linked creatine deficiency
- Mental retardation , X-linked, with creatine transport deficiency - See X-linked creatine deficiency
- Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA) - See Spastic paraplegia 1
- Mental retardation Buenos Aires type - See Intellectual deficit Buenos-Aires type
- Mental retardation macrocephaly coarse facies hypotonia
- Mental retardation psychosis macroorchidism - See PPM-X syndrome
- Mental retardation short stature hypertelorism - See Intellectual deficit - short stature - hypertelorism
- Mental retardation short stature microcephaly eye
- Mental retardation skeletal dysplasia abducens palsy
- Mental retardation Smith Fineman Myers type
- Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies - SeeTemtamy preaxial brachydactyly syndrome
- Mental retardation syndrome, Mietens Weber type - See Mietens-Weber syndrome
- Mental retardation with optic atrophy, deafness, and seizures - See Severe X-linked intellectual disability, Gustavson type
- Mental retardation with osteocartilaginous abnormalities - See Coffin-Lowry syndrome
- Mental retardation with psychosis, pyramidal signs, and macroorchidism - See PPM-X syndrome
- Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis - See Fitzsimmons syndrome
- Mental retardation X-linked severe Gustavson type - See Severe X-linked intellectual disability, Gustavson type
- Mental retardation X-linked Shashi type - See Mental retardation X-linked syndromic 11
- Mental retardation X-linked Siderius type - See X-linked intellectual disability, Siderius type
- Mental retardation X-linked syndromic 11
- Mental retardation X-linked syndromic 5 - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
- Mental retardation X-linked syndromic 7
- Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
- Mental retardation X-linked, Tranebjaerg type seizures and psoriasis - See Tranebjaerg Svejgaard syndrome
- Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose - See Pseudoprogeria syndrome
- Mental retardation, autosomal dominant 20 - See 5q14.3 microdeletion syndrome
- Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure - See Lowry Maclean syndrome
- Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency - See Epilepsy telangiectasia
- Mental retardation, epilepsy, short stature and skeletal dysplasia - See Gurrieri syndrome
- MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH - See MGAT2-CDG (CDG-IIa)
- Mental retardation, hypotonicity, incontinence, muscle atrophy, and inability to walk or speak - See Passos-Bueno syndrome
- Mental retardation, keratoconus, febrile seizures, and sinoatrial block
- Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum - SeeFG syndrome
- Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia - See N syndrome
- Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease - See Mowat-Wilson syndrome
- Mental retardation, microcephaly, epilepsy, and coarse face - See Battaglia-Neri syndrome
- Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate - SeeWeaver 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 - SeeMcDonough syndrome
- Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair - See Kozlowski-Krajewska syndrome
- Mental retardation, tall stature, obesity, macrocephaly and typical facial features - See Clark-Baraitser syndrome
- Mental retardation, truncal obesity, retinal dystrophy and micropenis - See MORM syndrome
- Mental retardation, X-linked 14
- Mental retardation, X-linked nonspecific, type 14 - See Mental retardation, X-linked 14
- Mental retardation, X-linked Renpenning type - See Renpenning syndrome 1
- Mental retardation, X-linked, Hyde-Forster type - See X-linked intellectual disability-plagiocephaly syndrome
- Mental retardation, X-linked, Lubs type (formerly) - See MECP2 duplication syndrome
- Mental retardation, X-linked, syndromic 13 - See PPM-X syndrome
- Mental retardation, X-linked, syndromic 2 - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 - See Graham-Cox syndrome
- Mental retardation, X-linked, syndromic 6 (formerly) - See Wilson-Turner syndrome
- Mental retardation, X-linked, syndromic 8 - See Renpenning syndrome 1
- Mental retardation, X-linked, with craniofacial dysmorphism - See X-linked intellectual disability-plagiocephaly syndrome
- Mental retardation, X-linked, with gynecomastia and obesity (formerly) - See Wilson-Turner syndrome
- Menzel type OPCA - See Spinocerebellar ataxia 1
- MEPAN syndrome
- Meralgia paraesthetica familial (type) - See Meralgia paresthetica
- Meralgia paresthetica
- Mercury poisoning
- Mercury toxicity - See Mercury poisoning
- Merkel cell cancer - See Merkel cell carcinoma
- Merkel cell carcinoma
- Merkle tumors - See Merkel cell carcinoma
- Merlob Grunebaum Reisner syndrome
- Mermaid malformation - See Sirenomelia
- Mermaid syndrome - See Sirenomelia
- Merosin-deficient congenital muscular dystrophy - See Congenital muscular dystrophy type 1A
- Merosin-negative congenital muscular dystrophy - See Congenital muscular dystrophy type 1A
- MERRF - See Myoclonic epilepsy with ragged red fibers
- Merrf syndrome - See Myoclonic epilepsy with ragged red fibers
- Merten-Singleton syndrome - See Singleton-Merten syndrome
- MES - See Malignant eccrine spiradenoma
- Mesangial proliferative glomerulonephritis
- Mesangial proliferative GN - See Mesangial proliferative glomerulonephritis
- Mesangial sclerosis, diffuse - See Diffuse mesangial sclerosis
- Mesangiocapillary glomerulonephritis - See Membranoproliferative glomerulonephritis
- Mesangiocapillary glomerulonephritis type 2 - See Dense deposit disease
- Mesangioproliferative glomerulonephritis - See Mesangial proliferative glomerulonephritis
- Mesangioproliferative glomerulopathy
- Mesenteric fibromatosis - See Sclerosing mesenteritis
- Mesenteric lipodystrophy - See Sclerosing mesenteritis
- Mesenteric lipogranuloma - See Sclerosing mesenteritis
- Mesenteric panniculitis - See Sclerosing mesenteritis
- Mesiodens cataract syndrome - See Nance-Horan syndrome
- Mesodermal dysmorphodystrophy congenital - See Weill-Marchesani syndrome
- Mesoectodermal dysplasia - See Ellis-Van Creveld syndrome
- Mesomelia
- Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation - See Ulna hypoplasia-intellectual disability syndrome
- Mesomelia synostoses - See Mesomelia-synostoses syndrome
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism Campailla-Martinelli type - See Acromesomelic dysplasia Campailla Martinelli type
- Mesomelic dwarfism cleft palate camptodactyly
- Mesomelic dwarfism Nievergelt type - See Nievergelt syndrome
- Mesomelic dwarfism of hypoplastic tibia and radius type
- Mesomelic dwarfism of hypoplastic ulna and fibula type - See Ulna and fibula, hypoplasia of
- Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type - See Langer mesomelic dysplasia
- Mesomelic dysplasia Kantaputra type
- Mesomelic dysplasia Reinhardt-Pfeiffer type - See Ulna and fibula, hypoplasia of
- Mesomelic dysplasia Savarirayan type
- Mesomelic dysplasia skin dimples
- Mesomelic dysplasia Thai type - See Mesomelic dysplasia Kantaputra type
- Mesomelic dysplasia with absent fibulas and triangular tibias - See Mesomelic dysplasia Savarirayan type
- Mesomelic dysplasia with ankle carpal and tarsal synostosis - See Mesomelic dysplasia Kantaputra type
- Mesomelic limb shortening and bowing - See Mesomelic dwarfism cleft palate camptodactyly
- Mesomelic shortening and hereditary nephritis - See Dyschondrosteosis nephritis
- Mesothelioma, malignant - See Malignant mesothelioma
- MesPGN - See Mesangioproliferative glomerulopathy
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
- Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness - See Mitochondrial myopathy with lactic acidosis
- Metabolic syndrome X - See Abdominal obesity metabolic syndrome
- Metacarpals 4 and 5 fusion
- Metachondromatosis
- Metachromatic leukodystrophy
- Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency - See Metachromatic leukodystrophy due to saposin B deficiency
- Metachromatic leukodystrophy due to saposin B deficiency
- Metachromatic leukoencephalopathy - See Metachromatic leukodystrophy
- Metageria - See Acrogeria, Gottron type
- Metagonimiasis
- Metagonimus yokogawai infection - See Metagonimiasis
- Metaphyseal acroscyphodysplasia
- Metaphyseal anadysplasia
- Metaphyseal and epiphyseal dysplasia with unusual facies and cataract - See Kozlowski Rafinski Klicharska syndrome
- Metaphyseal chondrodysplasia McKusick type - See Cartilage-hair hypoplasia
- Metaphyseal chondrodysplasia Murk Jansen type - See Jansen type metaphyseal chondrodysplasia
- Metaphyseal chondrodysplasia Schmid type
- Metaphyseal chondrodysplasia Spahr type
- Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia - See Trichoscyphodysplasia
- Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
- Metaphyseal chondrodysplasia with ectodermal dysplasia - See Trichoscyphodysplasia
- Metaphyseal chondrodysplasia, others
- Metaphyseal chondroplasia Rosenberg type - See Ulna metaphyseal dysplasia syndrome
- Metaphyseal dysostosis, conductive hearing loss and mental retardation (formerly) - See Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Metaphyseal dysplasia - See Pyle disease
- Metaphyseal dysplasia hypertelorism hypospadias - See Say Carpenter syndrome
- Metaphyseal dysplasia maxillary hypoplasia brachydactyly
- Metaphyseal dysplasia Pyle type - See Pyle disease
- Metaphyseal dysplasia without hypotrichosis
- Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia - See Roy Maroteaux Kremp syndrome
- Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
- Metaplastic breast cancer - See Metaplastic carcinoma of the breast
- Metaplastic carcinoma of the breast
- Metastatic dermatofibrosarcoma protuberans (subtype) - See Dermatofibrosarcoma protuberans
- Metastatic insulinoma
- Metastatic squamous neck cancer with occult primary
- Metatarsus adductus - not a rare disease
- Metatropic dwarfism - See Metatropic dysplasia
- Metatropic dysplasia
- Metatropic dysplasia, nonlethal dominant - See Metatropic dysplasia
- METCDS - See Metachondromatosis
- Methacrylic acid toxicity - See HIBCH deficiency
- Methacrylic aciduria - See HIBCH deficiency
- Methemoglobinemia due to deficiency of methemoglobin reductase - See NADH cytochrome B5 reductase deficiency
- Methemoglobinemia, beta-globin type
- Methimazole antenatal exposure
- Methimazole embryofetopathy - See Methimazole antenatal exposure
- Methimazole/carbimazole embryofetopathy - See Methimazole antenatal exposure
- Methimazole/carbimazole embryopathy - See Methimazole antenatal exposure
- Methionine adenosyltransferase deficiency
- Methionine synthase deficiency - See Methylcobalamin deficiency cbl G type
- Methyl mercury antenatal exposure - See Fetal methylmercury syndrome
- Methylcobalamin deficiency cbl G type
- Methylcobalamin deficiency, cbl E complementation type
- Methylcrotonylglycinuria type 2 - See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
- Methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
- Methylenetetrahydrofolate reductase variant - See MTHFR gene variant - not a rare disease
- Methylmalonic acidemia
- Methylmalonic acidemia and homocysteinemia type cblX
- Methylmalonic acidemia and homocysteinemia, cblX type - See Methylmalonic acidemia and homocysteinemia type cblX
- Methylmalonic acidemia and homocystinemia - See Methylmalonic acidemia with homocystinuria
- Methylmalonic acidemia and homocystinuria cblc - See Methylmalonic acidemia with homocystinuria type cblC
- METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE - See Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic acidemia cblA type - See Methylmalonic aciduria, cblA type
- Methylmalonic acidemia cblB type - See Methylmalonic aciduria, cblB type
- Methylmalonic acidemia with homocystinuria
- Methylmalonic acidemia with homocystinuria type cblC
- Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic acidemia with homocystinuria type cblF
- Methylmalonic acidemia with homocystinuria type cblJ
- Methylmalonic acidemia with homocystinuria, type cblD - See Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic acidemia with homocystinuria, type cblJ - See Methylmalonic acidemia with homocystinuria type cblJ
- Methylmalonic acidemia with homocystinuria, type cblX - See Methylmalonic acidemia and homocysteinemia type cblX
- METHYLMALONIC ACIDEMIA, cblB TYPE - See Methylmalonic aciduria, cblB type
- METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY - See Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic aciduria and homocystinuria cblc - See Methylmalonic acidemia with homocystinuria type cblC
- Methylmalonic aciduria and homocystinuria, cblC type - See Methylmalonic acidemia with homocystinuria type cblC
- Methylmalonic aciduria and homocystinuria, cblJ type - See Methylmalonic acidemia with homocystinuria type cblJ
- Methylmalonic aciduria cblA type - See Methylmalonic aciduria, cblA type
- Methylmalonic aciduria cblB type - See Methylmalonic aciduria, cblB type
- Methylmalonic aciduria microcephaly cataract
- Methylmalonic aciduria with homocystinuria, type cblD - See Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic aciduria with homocystinuria, type cblF - See Methylmalonic acidemia with homocystinuria type cblF
- Methylmalonic aciduria with homocystinuria, type cblJ - See Methylmalonic acidemia with homocystinuria type cblJ
- Methylmalonic aciduria with homocystinuria, type cblX - See Methylmalonic acidemia and homocysteinemia type cblX
- Methylmalonic aciduria, cblA type
- Methylmalonic aciduria, cblB type
- METHYLMALONIC ACIDURIA, cblB TYPE - See Methylmalonic aciduria, cblB type
- METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED - See Methylmalonic acidemia with homocystinuria type cblD
- METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY - See Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type - See Methylmalonic aciduria, cblA type
- METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE - See Methylmalonic aciduria, cblB type
- Methylmalonyl-Coenzyme A mutase deficiency
- Mevalonic aciduria
- Mevalonicaciduria - See Mevalonic aciduria
- Meyer-Schwickerath's syndrome - See Fraser syndrome
- MFD Toriello type - See Branchial arch syndrome X-linked
- MFD1 - See Treacher Collins syndrome
- MFDGA - See Mandibulofacial dysostosis with microcephaly
- MFDM - See Mandibulofacial dysostosis with microcephaly
- MFDM syndrome - See Mandibulofacial dysostosis with microcephaly
- MFM-titinopathy - See Hereditary proximal myopathy with early respiratory failure
- MFT1 - See Multiple familial trichoepithelioma
- MFT2 - See Multiple familial trichoepithelioma
- MGA 5 - See 3 methylglutaconic aciduria type V
- MGA type I - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
- MGA type II - See Barth syndrome
- MGA type III - See OPA3 defect
- MGA V - See 3 methylglutaconic aciduria type V
- MGA3 - See OPA3 defect
- MGA5 - See DCMA syndrome
- MGAT2-CDG - See MGAT2-CDG (CDG-IIa)
- MGAT2-CDG (CDG-IIa)
- MGC1 - See Isolated congenital megalocornea
- MGCN - See Isolated congenital megalocornea
- MGN - See Membranous nephropathy
- MGS - See Mungan syndrome
- MGUS - See Monoclonal gammopathy of undetermined significance
- MH - See Malignant hyperthermia
- MHAC - See Microhydranencephaly
- MHAM - See Cowden syndrome
- MHBD deficiency - See 2-methyl-3-hydroxybutyric aciduria
- MHC class 1 deficiency
- MHP1 - See Familial hemiplegic migraine type 1
- MHP2 - See Familial hemiplegic migraine type 2
- MHP3 - See Familial hemiplegic migraine type 3
- MHS - See Malignant hyperthermia susceptibility type 1
- MHS1 - See Malignant hyperthermia susceptibility type 1
- MHS2 - See Malignant hyperthermia susceptibility type 2
- MHS3 - See Malignant hyperthermia susceptibility type 3
- MHS4 - See Malignant hyperthermia susceptibility type 4
- MHS5 - See Malignant hyperthermia susceptibility type 5
- MHS6 - See Malignant hyperthermia susceptibility type 6
- Michelin tire baby syndrome - See Circumferential skin creases Kunze type
- Michellis-Castrillo syndrome - See Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- Michels Caskey syndrome
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