M | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• 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 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 Adrenomyodystrophy
• 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 - 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, Majewski type
• 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
• 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 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
• Martinez-Frias syndrome - See Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
• Martsolf syndrome
• MAS - See McCune-Albright syndrome
• MAS - See Meconium aspiration 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
• 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
• 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
• Maxillary double lip
• Maxillofacial dysostosis
• Maxillonasal dysplasia, Binder type
• Maxillopalpebral synkinesis - See Marcus Gunn phenomenon
• May Thurner syndrome - See May-Thurner syndrome
• Mayer-Rokitansky-Küster-Hauser syndrome - See Mullerian aplasia
• 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
• MCCD - See 3-methylcrotonyl-CoA carboxylase deficiency
• 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 Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• MCKD2 - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• 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 Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• Medullary cystic kidney disease 2 (former) - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Medullary cystic kidney disease type 1 - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• 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
• 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 psychosis macroorchidism - See PPM-X syndrome
• Mental retardation short stature hypertelorism - See Intellectual deficit - short stature - hypertelorism
• Mental retardation skeletal dysplasia abducens palsy
• Mental retardation Smith Fineman Myers type
• Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies - 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, 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
• 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 dwarfism-small genitalia syndrome - See Robinow 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 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
• 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 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
• MICPCH - See X-linked intellectual disability, Najm type
• MICPCH SYNDROME - See X-linked intellectual disability, Najm type
• Micro syndrome
• Microangiopathic hemolytic anemia - See Congenital thrombotic thrombocytopenic purpura
• Microangiopathic hemolytic anemia, congenital - See Congenital thrombotic thrombocytopenic purpura
• Microbrachycephaly ptosis cleft lip
• Microcephalia vera - See Autosomal recessive primary microcephaly
• Microcephalic osteodysplastic primordial dwarfism type 1
• Microcephalic osteodysplastic primordial dwarfism type 2
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3 - See Microcephalic osteodysplastic primordial dwarfism type 1
• Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities - See Microcephalic osteodysplastic primordial dwarfism type 2
• Microcephalic primordial dwarfism and cataracts - See Microcephalic primordial dwarfism Toriello type
• Microcephalic primordial dwarfism Toriello type
• Microcephalic primordial dwarfism, Montreal type
• Microcephaly
• Microcephaly - brain defect - spasticity - hypernatremia - See Microcephaly brain defect spasticity hypernatremia
• Microcephaly - intracranial calcification - intellectual disability - See Congenital intrauterine infection-like syndrome
• Microcephaly - seizures - developmental delay - See Early Infantile Epileptic Encephalopathy
• Microcephaly autosomal dominant
• Microcephaly brachydactyly kyphoscoliosis - See Viljoen Kallis Voges syndrome
• Microcephaly brain defect spasticity hypernatremia
• Microcephaly cervical spine fusion anomalies
• Microcephaly chorioretinopathy recessive form
• Microcephaly cleft palate autosomal dominant - See Halal syndrome
• Microcephaly deafness syndrome
• Microcephaly glomerulonephritis Marfanoid habitus
• Microcephaly hypogammaglobulinemia abnormal immunity - See Say Barber Miller syndrome
• Microcephaly immunodeficiency lymphoreticuloma - See Nijmegen breakage syndrome
• Microcephaly lymphedema chorioretinal dysplasia - See Lymphedema, microcephaly and chorioretinopathy syndrome
• Microcephaly microcornea syndrome Seemanova type
• Microcephaly micropenis convulsions
• Microcephaly micropenis seizures - See Microcephaly micropenis convulsions
• Microcephaly microphthalmia ectrodactyly of lower limbs and prognathism - See Microphthalmia syndromic 8
• Microcephaly microphthalmos blindness
• Microcephaly nephrosis syndrome - See Galloway-Mowat syndrome
• Microcephaly nonsyndromal
• Microcephaly pontocerebellar hypoplasia dyskinesia
• Microcephaly seizures genital hypoplasia - See Microcephaly micropenis convulsions
• Microcephaly vera - See Autosomal recessive primary microcephaly
• Microcephaly with autosomal dominant inheritance - See Microcephaly autosomal dominant
• Microcephaly with cardiomyopathy - See Microcephaly-cardiomyopathy
• Microcephaly with chemotactic defect and transient hypogammaglobulinemia - See Say Barber Miller syndrome
• Microcephaly with chorioretinopathy, autosomal dominant form
• Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies - See Nijmegen breakage syndrome
• microcephaly with pontine and cerebellar hypoplasia - See X-linked intellectual disability, Najm type
• Microcephaly with spastic diplegia - See Paine syndrome
• Microcephaly with spastic quadriplegia
• Microcephaly, Amish type - See Amish lethal microcephaly
• Microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency - See Hersh Podruch Weisskopk syndrome
• Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis - See Ellis Yale Winter syndrome
• Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Microcephaly, facial clefting, and preaxial polydactyly - See Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Microcephaly, hiatal hernia, and nephrotic syndrome - See Galloway-Mowat syndrome
• Microcephaly, holoprosencephaly, and intrauterine growth retardation
• Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation- See Wolf-Hirschhorn syndrome
• Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism - See Micro syndrome
• Microcephaly, mild mental retardation, short stature, and skeletal anomalies - See Microcephaly cervical spine fusion anomalies
• Microcephaly, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy and nystagmus - See Silengo Lerone Pelizza syndrome
• Microcephaly, seizures, and developmental delay - See Early Infantile Epileptic Encephalopathy
• Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability - See Viljoen Kallis Voges syndrome
• Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia - See Milner Khallouf Gibson syndrome
• Microcephaly-albinism-digital anomalies syndrome
• Microcephaly-cardiomyopathy
• Microcephaly-cardiomyopathy syndrome - See Microcephaly-cardiomyopathy
• Microcephaly-cerebral malformation-orofaciodigital syndrome - See Orofaciodigital syndrome 14
• Microcephaly-intracranial calcification-intellectual disability syndrome - See Congenital intrauterine infection-like syndrome
• Microcephaly-microcornea syndrome, Seemanova type - See Microcephaly microcornea syndrome Seemanova type
• Microcephaly-oculo-digito-esophageal-duodenal syndrome - See Feingold syndrome
• Microcoria - congenital nephrosis - See Pierson syndrome
• Microcoria - congenital nephrotic syndrome - See Pierson syndrome
• Microcoria, congenital - See Congenital microcoria
• Microcornea posterior megalolenticonus persistent fetal vasculature coloboma
• Microcornea cataract syndrome - See Cataract microcornea syndrome
• Microcornea corectopia macular hypoplasia
• Microcornea, glaucoma, and absent frontal sinuses
• Microcystic adnexal carcinoma
• Microcystic dystrophy of the cornea - See Epithelial basement membrane corneal dystrophy
• Microcystic infiltrating lymphatic malformation - See Microcystic lymphatic malformation
• Microcystic lymphangioma - See Microcystic lymphatic malformation
• Microcystic lymphatic malformation
• Microcytic anemia and hepatic iron overload - See Hypochromic microcytic anemia with iron overload
• Microcytic anemia with liver iron overload - See Hypochromic microcytic anemia with iron overload
• Microdeletion 15q13.3 syndrome - See 15q13.3 microdeletion syndrome
• Microdeletion 16p11.2 - See 16p11.2 deletion syndrome
• Microdeletion 17q21.31 syndrome - See Koolen de Vries syndrome
• Microdontia hypodontia short stature
• Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality - See Microdontia hypodontia short stature
• Microduplication 15q13.3 syndrome - See 15q13.3 microduplication syndrome
• Microduplication 3q29 syndrome - See Chromosome 3q29 microduplication syndrome
• Microduplication Xp11.22p11.23 syndrome - See Microduplication Xp11.22-p11.23 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 - SeeSpondyloepimetaphyseal dysplasia micromelic
• Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification - See Desbuquois syndrome
• Micromelic dysplasia congenita with dislocation of radius - See Omodysplasia 1
• Micropenis - See Penis agenesis
• Microphthalmia
• Microphthalmia and brain atrophy - See Microphthalmia syndromic 10
• Microphthalmia and esophageal atresia syndrome - See Syndromic microphthalmia, type 3
• Microphthalmia and pituitary anomalies - See Microphthalmia syndromic 6
• Microphthalmia associated with colobomatous cyst
• Microphthalmia cataracts radiculomegaly and septal heart defects - See Oculofaciocardiodental syndrome
• Microphthalmia Dermal Aplasia and Sclerocornea syndrome - See Microphthalmia with linear skin defects syndrome
• Microphthalmia Lenz type - See Lenz microphthalmia syndrome
• Microphthalmia microtia fetal akinesia
• Microphthalmia or anophthalmos with associated anomalies (formerly) - See Lenz microphthalmia syndrome
• Microphthalmia syndromic 1 - See Lenz microphthalmia syndrome
• Microphthalmia syndromic 10
• Microphthalmia syndromic 2 - See Oculofaciocardiodental syndrome