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Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [M]
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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- M hemoglobinopathy - See Methemoglobinemia, beta-globin type
- M. Abscessus - See Mycobacterium Abscessus
- M. Chelonae - See Mycobacterium Chelonae
- M. Fortuitum - See Mycobacterium fortuitum
- M. Gordonae - See Mycobacterium Gordonae
- M. Kansasii - See Mycobacterium Kansasii
- M. Malmoense - See Mycobacterium Malmoense
- M. Marinum - See Mycobacterium Marinum
- M. Xenopi - See Mycobacterium Xenopi
- M/SCHAD - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- M-A - See Microtia-Anotia
- MAA (formerly) - See Lenz microphthalmia syndrome
- MAA2 (formerly) - See Oculofaciocardiodental syndrome
- Mac Dermot Winter syndrome
- Mac 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 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 focal seizures of infancy - See Malignant migrating partial seizures of infancy
- 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 - See Adrenomyodystrophy
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis - See Treacher Collins syndrome
- Mandibulofacial dysostosis Toriello type - See Branchial arch syndrome X-linked
- Mandibulofacial dysostosis with microcephaly
- Mandibulofacial dysostosis, Guion-Almeida type - See Mandibulofacial dysostosis with microcephaly
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - See Treacher Collins syndrome 3
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies - See Nager acrofacial dysostosis
- Mandibulofacial dysostosis-microcephaly syndrome - See Mandibulofacial dysostosis with microcephaly
- Manic depression - See Bipolar disorder - not a rare disease
- Manic-depressive psychosis - See Bipolar disorder - not a rare disease
- Manitoba oculotrichoanal syndrome
- Manitoba Trichoanal syndrome - See Manitoba oculotrichoanal syndrome
- Mannose-binding lectin protein deficiency - not a rare disease
- Mannose-binding protein deficiency - See Mannose-binding lectin protein deficiency - not a rare disease
- Mannosephosphate isomerase deficiency - See MPI-CDG (CDG-Ib)
- Mannosidosis, alpha B lysosomal - See Alpha-mannosidosis
- Mannosidosis, beta A, lysosomal
- Mannosyltransferase 1 deficiency - See ALG1-CDG (CDG-Ik)
- Mannosyltransferase 2 deficiency - See ALG2-CDG (CDG-Ii)
- Mannosyltransferase 6 deficiency - See ALG3-CDG (CDG-Id)
- Mannosyltransferase 7-9 deficiency - See ALG9-CDG (CDG-IL)
- Mannosyltransferase 8 deficiency - See ALG12-CDG (CDG-Ig)
- Manouvrier syndrome
- Mansonella perstans - See Acanthocheilonemiasis
- Mansonella perstans infections - See Mansonelliasis
- Mansonelliasis
- Mansonellosis - See Mansonelliasis
- Mantle cell lymphoma
- MAP syndrome - See MYH-associated polyposis
- Map-dot-fingerprint dystrophy of cornea - See Epithelial basement membrane corneal dystrophy
- Maple syrup urine disease
- Maple syrup urine disease type 1A
- Maple syrup urine disease type 1B
- Maple syrup urine disease type 2
- Maple syrup urine disease, type III - See Dihydrolipoamide dehydrogenase deficiency
- MAR - See 5q- syndrome
- Marble bone disease - See Osteopetrosis
- Marble bones - See Osteopetrosis
- Marble bones autosomal recessive - See Osteopetrosis autosomal recessive 1
- Marble brain disease - See Osteopetrosis autosomal recessive 3
- Marburg disease - See Marburg hemorrhagic fever
- Marburg hemorrhagic fever
- Marburg variant - See Tumefactive multiple sclerosis
- Marburg virus disease - See Marburg hemorrhagic fever
- Marchiafava Bignami disease
- Marchiafava-Micheli disease - See Paroxysmal nocturnal hemoglobinuria
- Marcus Gunn phenomenon
- Marcus Gunn syndrome - See Marcus Gunn phenomenon
- Marden Walker like syndrome
- Marden Walker like syndrome without psychomotor retardation - See Marden Walker like syndrome
- Marden-Walker syndrome
- Marek disease
- Marek's Disease - See Marek disease
- Marfan syndrome
- Marfanoid craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
- Marfanoid disorder with craniosynostosis type 1 - See Shprintzen-Goldberg craniosynostosis syndrome
- Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies - See Lujan syndrome
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Marfanoid hypermobility syndrome
- Marfanoid-craniosynostosis syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
- Marginal alopecia - See Alopecia areata - not a rare disease
- Marginal glioneuronal heterotopia
- Marginal zone lymphoma
- Mari type Alopecia universalis congenita - See Total Hypotrichosis, Mari type
- Marie Unna congenital hypotrichosis
- Marie Unna hereditary hypotrichosis - See Marie Unna congenital hypotrichosis
- Marie-Sainton disease - See Cleidocranial dysplasia
- Marie-Strumpell spondylitis - See Ankylosing spondylitis - not a rare disease
- Marinesco-Garland Syndrome - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren syndrome
- Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren Syndrome-Myopathy - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren-Garland Syndrome - See Marinesco-Sjogren syndrome
- Marinesco-Sjogren-like syndrome (MSLS)
- Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins - See Gray platelet syndrome
- Markel Vikkula Mulliken syndrome
- Marker X syndrome - See Fragile X syndrome
- Marles syndrome - See Manitoba oculotrichoanal syndrome
- Marles-Greenberg-Persaud syndrome - See Manitoba oculotrichoanal syndrome
- Maroteaux Fonfria syndrome
- Maroteaux Lamy syndrome - See Mucopolysaccharidosis type VI
- Maroteaux Le Merrer Bensahel syndrome - See Carpotarsal osteochondromatosis
- Maroteaux Stanescu Cousin syndrome
- Maroteaux Verloes Stanescu syndrome - See Metaphyseal anadysplasia
- Maroteaux-Malamut syndrome - See Acrodysostosis
- Marphanoid syndrome type De Silva
- Marrow hypoplasia associated with congenital neurologic anomalies - See Drachtman Weinblatt Sitarz syndrome
- Marsden 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 Multicentric Castleman Disease
- MCD - See Multiple carboxylase deficiency
- 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 Spahr type
- MCDS - See Metaphyseal chondrodysplasia Schmid 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 - See Temtamy preaxial brachydactyly syndrome
- Mental retardation syndrome, Mietens Weber type - See Mietens-Weber syndrome
- Mental retardation with optic atrophy, deafness, and seizures - See Severe X-linked intellectual disability, Gustavson type
- Mental retardation with osteocartilaginous abnormalities - See Coffin-Lowry syndrome
- Mental retardation with psychosis, pyramidal signs, and macroorchidism - See PPM-X syndrome
- Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis - See Fitzsimmons syndrome
- Mental retardation X-linked severe Gustavson type - See Severe X-linked intellectual disability, Gustavson type
- Mental retardation X-linked Shashi type - See Mental retardation X-linked syndromic 11
- Mental retardation X-linked Siderius type - See X-linked intellectual disability, Siderius type
- Mental retardation X-linked syndromic 11
- Mental retardation X-linked syndromic 5 - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
- Mental retardation X-linked syndromic 7
- Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
- Mental retardation X-linked, Tranebjaerg type seizures and psoriasis - See Tranebjaerg Svejgaard syndrome
- Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose - See Pseudoprogeria syndrome
- Mental retardation, autosomal dominant 20 - See 5q14.3 microdeletion syndrome
- Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure - See Lowry Maclean syndrome
- Mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency - See Epilepsy telangiectasia
- Mental retardation, epilepsy, short stature and skeletal dysplasia - See Gurrieri syndrome
- MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH - See MGAT2-CDG (CDG-IIa)
- Mental retardation, keratoconus, febrile seizures, and sinoatrial block
- Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum - See FG syndrome
- Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia - See N syndrome
- Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease - See Mowat-Wilson syndrome
- Mental retardation, microcephaly, epilepsy, and coarse face - See Battaglia-Neri syndrome
- Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate - See Weaver Williams syndrome
- Mental retardation, obesity, hypogonadism, and tapering fingers - See Mental retardation X-linked syndromic 7
- Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect - See McDonough syndrome
- Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair - See Kozlowski-Krajewska syndrome
- Mental retardation, tall stature, obesity, macrocephaly and typical facial features - See Clark-Baraitser syndrome
- Mental retardation, truncal obesity, retinal dystrophy and micropenis - See MORM syndrome
- Mental retardation, X-linked 14
- Mental retardation, X-linked nonspecific, type 14 - See Mental retardation, X-linked 14
- Mental retardation, X-linked Renpenning type - See Renpenning syndrome 1
- Mental retardation, X-linked, Hyde-Forster type - See X-linked intellectual disability-plagiocephaly syndrome
- Mental retardation, X-linked, Lubs type (formerly) - See MECP2 duplication syndrome
- Mental retardation, X-linked, syndromic 13 - See PPM-X syndrome
- Mental retardation, X-linked, syndromic 2 - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 - See Graham-Cox syndrome
- Mental retardation, X-linked, syndromic 6 (formerly) - See Wilson-Turner syndrome
- Mental retardation, X-linked, syndromic 8 - See Renpenning syndrome 1
- Mental retardation, X-linked, with craniofacial dysmorphism - See X-linked intellectual disability-plagiocephaly syndrome
- Mental retardation, X-linked, with gynecomastia and obesity (formerly) - See Wilson-Turner syndrome
- Menzel type OPCA - See Spinocerebellar ataxia 1
- MEPAN syndrome
- Meralgia paraesthetica familial (type) - See Meralgia paresthetica
- Meralgia paresthetica
- Mercury poisoning
- Mercury toxicity - See Mercury poisoning
- Merkel cell cancer - See Merkel cell carcinoma
- Merkel cell carcinoma
- Merkle tumors - See Merkel cell carcinoma
- 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
- Mesodermic dysplasia - See Ellis-Van Creveld 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
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