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Machado-Joseph DiseaseAn autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and is caused by expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.Macrocephaly-Autism SyndromeA syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that is caused by h Macrocytic AnemiaAn anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL).Macular Corneal DystrophyA corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.Macular DegenerationLoss of central vision as the retina's center deteriorates. Tracking your symptoms and connecting with others who understand can help you manage day to day.Maffucci SyndromeA syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.Mahvash DiseaseAn endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that is caused by homozygous or compound heterozygous inactivating mu Majeed SyndromeAn autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that is caused by homozygous mutation in the LPIN2 gene on chromosom Major Depressive DisorderSevere depression that interferes with daily functioning.MalariaA mosquito-borne parasitic infection. Tracking your symptoms and connecting with others who understand can help you manage day to day.Mal De MeledaA palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that Male Breast CancerA breast cancer that occurs in males.Maleic Anhydride Allergic AsthmaAn allergic asthma that triggered by maleic anhydride.Male Infertility Due to Acephalic SpermatozoaA spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads.Male Infertility Due to GlobozoospermiaA spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects.Male Reproductive Organ Benign NeoplasmA reproductive organ benign neoplasm that is characterized by a lack of malignancy in the male reproductive system.Male Reproductive Organ CancerA reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.Male Urethral CancerAn urethral cancer that arises from the male urethra.Malignant AdenomaA cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.Malignant AstrocytomaA malignant glioma that is is caused by astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.Malignant Breast MelanomaA breast cancer that arises from melanocytes.Malignant Childhood Adrenal Gland PheochromocytomaAn adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.Malignant Epithelioid HemangioendotheliomaA malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.Malignant Exocrine Pancreas NeoplasmA pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.Malignant Extragonadal Nonseminomatous Germ Cell TumorAn extragonadal germ cell cancer that are in the pineal gland in the brain, in the mediastinum or in the abdomen.Malignant Eyelid MelanomaA skin melanoma that arises from the upper or lower eyelid.Malignant Gastric TeratomaA malignant teratoma that is caused by gastric tissue.Malignant HemangiomaA cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen.Malignant HypertensionA hypertension that is characterized by rapid onset of extremely high blood pressure.Malignant HyperthermiaA muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate bod Malignant Mediastinal Neurogenic NeoplasmA mediastinal cancer that is caused by neural cells.Malignant Mediastinum HemangiopericytomaA hemangiopericytoma and sarcoma of the mediastinum that is in the mediastinum.Malignant MesotheliomaA cell type cancer that is caused by mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing mali Malignant Neoplasm of Short Bones of Lower LimbA bone cancer that is located in the short bones of lower limbs.Malignant Otitis ExternaAn otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This Malignant Ovarian Brenner TumorA malignant ovarian surface epithelial-stromal neoplasm that is caused by the surface epithelium of the ovary.Malignant Ovarian CystAn ovarian cancer that is characterized by cystic structure.Malignant Ovarian Surface Epithelial-Stromal NeoplasmAn ovary epithelial cancer that is caused by epithelial and stromal tissue and arises from the surface epithelium of the ovary.Malignant Peritoneal Solitary Fibrous TumorA peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum.Malignant PheochromocytomaAn adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.Malignant Pleural MesotheliomaA pleural cancer that is caused by mesothelium cells.Malignant Pleural Solitary Fibrous TumorA pleural cancer that is in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura.Malignant Spindle Cell MelanomaA melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.Malignant Struma OvariiA struma ovarii that is cancerous.Malignant TeratomaA teratoma that is cancerous.Malt Worker'S LungAn extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.Mammary Analogue Secretory CarcinomaA salivary gland carcinoma that is caused by a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.Mammary Paget'S DiseaseA breast adenocarcinoma that is caused by epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.Mandibular CancerA jaw cancer and mandibular disease that affects your lower jawbone.Mandibuloacral DysplasiaA bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by Mandibuloacral Dysplasia Type a LipodystrophyA mandibuloacral dysplasia that is caused by homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies w Mandibuloacral Dysplasia Type B LipodystrophyA mandibuloacral dysplasia that is caused by compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hyp Mandibulofacial Dysostosis, Guion-Almeida TypeA syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.Mandibulofacial Dysostosis with AlopeciaA syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.MansonelliasisA filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.Mantle Cell LymphomaA B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.Maple Bark Strippers' LungAn opportunistic mycosis that is in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, is caused by Cryptostroma corticale.Maple Syrup Urine DiseaseA rare metabolic disorder that prevents breaking down certain amino acids.Maple Syrup Urine Disease Type IAA maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that is caused by homozygous or compound heterozygous mutation in the BCKDHA gene, which Maple Syrup Urine Disease Type IBA maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that is caused by homozygous or compound heterozygous mutation in the BCKDHB Maple Syrup Urine Disease Type IIA maple syrup urine disease that is caused by homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21.MarasmusA protein-energy malnutrition that is characterized by severe caloric deprivation, causes emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and is cau Marburg Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Marburg virus (Orthomarburgvirus marburgense), which is transmitted by contact with the body fluids of an infected person. The infection causes fever,Marburg VirusA rare, severe viral hemorrhagic fever.Marfan SyndromeA connective tissue disorder affecting the heart, eyes, and bones.Marginal Corneal UlcerA corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus.Marginal Zone LymphomaA B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.Marinesco-Sjogren SyndromeA syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.Marshall-Smith SyndromeA syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.Marshall SyndromeAn ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that is caused by heter Marsili SyndromeA syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that is caused by heterozygous mutation in the ZFHX2 gene on chromosome 14q11.Martsolf SyndromeA syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that is caused by homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.MASA SyndromeA hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to modera Mast-Cell LeukemiaA leukemia that causes an overwhelming number of tissue mast cells in peripheral blood.Mast Cell NeoplasmA hematologic cancer that is caused by mast cells.Mast-Cell SarcomaA sarcoma that is caused by mast cells.Masters-Allen SyndromeA female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untowa MastitisA breast disease characterized by painful infection of the breast tissue.MastoiditisA middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.Mast SyndromeA hereditary spastic paraplegia associated with dementia.Mature CataractA senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial eti Mature Gastric TeratomaA mature teratoma that is caused by gastric tissue.Mature T-Cell and NK-Cell LymphomaA T-cell non-Hodgkin lymphoma that is caused by mature T lymphocytes and natural killer cells.Mature TeratomaA teratoma that is composed exclusively of mature tissues derived from two or three germ layers.Mature Teratoma of the OvaryAn ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).Maturity-Onset Diabetes of the YoungA diabetes mellitus that is caused by autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects Maturity-Onset Diabetes of the Young Type 1A maturity-onset diabetes of the young that is caused by mutation in the HNF4A gene on chromosome 20.Maturity-Onset Diabetes of the Young Type 10A maturity-onset diabetes of the young that is caused by heterozygous mutation in the INS gene on chromosome 11p15.5.Maturity-Onset Diabetes of the Young Type 11A maturity-onset diabetes of the young that is caused by heterozygous mutation in the BLK gene on chromosome 8p23-p22.Maturity-Onset Diabetes of the Young Type 13A maturity-onset diabetes of the young that is caused by heterozygous mutation in the KCNJ11 gene on chromosome 11p15.Maturity-Onset Diabetes of the Young Type 14A maturity-onset diabetes of the young that is caused by heterozygous mutation in the APPL1 gene on chromosome 3p14.Maturity-Onset Diabetes of the Young Type 2A maturity-onset diabetes of the young that is caused by heterozygous mutation in the GCK gene on chromosome 7p13.Maturity-Onset Diabetes of the Young Type 3A maturity-onset diabetes of the young that is caused by mutation in the HNF1A gene on chromosome 12q24.31.Maturity-Onset Diabetes of the Young Type 4A maturity-onset diabetes of the young that is caused by mutation in the PDX1 gene on chromosome 13q12.2.Maturity-Onset Diabetes of the Young Type 6A maturity-onset diabetes of the young that is caused by heterozygous mutation in the NEUROD1 gene on chromosome 2q31.Maturity-Onset Diabetes of the Young Type 7A maturity-onset diabetes of the young that is caused by heterozygous mutation in the KLF11 gene on chromosome 2p25.Maturity-Onset Diabetes of the Young Type 8A maturity-onset diabetes of the young that is caused by frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.Maturity-Onset Diabetes of the Young Type 9A maturity-onset diabetes of the young that is caused by heterozygous mutation in the PAX4 gene on chromosome 7q32.1.Maxillary CancerA jaw cancer that effects the maxilla or upper jaw.Maxillary Sinus CholesteatomaA cholesteatoma in paranasal sinus.Maxillary SinusitisA sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.Maxillary Sinus Squamous Cell CarcinomaA squamous cell carcinoma that is in the maxillary sinus.Mayer-Rokitansky-Kuster-Hauser SyndromeA syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less co McCune Albright SyndromeA syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and is caused by spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryo MCD Diffuse Large B-Cell LymphomaA diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common McKusick-Kaufman SyndromeA syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that is caused by homozygous or compound hete McLeod SyndromeA neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that is caused by mutation in MeaslesA highly contagious viral infection with fever and a red rash.Measles Inclusion Body EncephalitisA viral encephalitis that is caused by measles virus (Morbillivirus hominis) and occurs in immunocompromised patients with acute onset of progressive seizures days to months after infection or vaccination with the live-a Meckel'S DiverticulitisA diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth.Meckel'S DiverticulumA physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum.Meckel'S Diverticulum CancerAn ileum cancer originating from Meckel's diverticulum.Meckel SyndromeA ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.Meckel Syndrome 1A Meckel syndrome that is caused by an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.Meckel Syndrome 10A Meckel syndrome that is caused by homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.Meckel Syndrome 11A Meckel syndrome that is caused by homozygous mutation in the TMEM231 gene on chromosome 16q23.Meckel Syndrome 12A Meckel syndrome that is caused by a compound heterozygous mutation in the KIF14 gene on chromosome 1q31.Meckel Syndrome 13A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that is caused by homozygous or compound heterozygous mutation Meckel Syndrome 14A Meckel syndrome that is caused by homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31.Meckel Syndrome 2A Meckel syndrome that is caused by an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.Meckel Syndrome 3A Meckel syndrome that is caused by an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.Meckel Syndrome 4A Meckel syndrome that is caused by an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.Meckel Syndrome 5A Meckel syndrome that is caused by an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.Meckel Syndrome 6A Meckel syndrome that is caused by an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.Meckel Syndrome 7A Meckel syndrome that is caused by an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.Meckel Syndrome 8A Meckel syndrome that is caused by an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.Meckel Syndrome 9A Meckel syndrome that is caused by compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2.Meconium Aspiration SyndromeA lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.Mediastinal CancerA thoracic cancer that is in the mediastinum.Mediastinal NeurilemmomaA neurilemmoma in the mediastinum.Mediastinal Psammomatous NeurilemmomaA mediastinal neurilemmoma characterized by the presence of psammoma bodies.MediastinitisA connective tissue disease characterized by inflammation in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.Mediastinum AngiosarcomaAn angiosarcoma and sarcoma of the mediastinum that is in the mediastinum.Mediastinum LeiomyomaA thoracic benign neoplasm that arises from smooth muscle cells and is in the mediastinum.Mediastinum LeiomyosarcomaA leiomyosarcoma and sarcoma of the mediastinum that derive from smooth muscle and are usually in the esophagus or in the main vessels.Mediastinum LiposarcomaA liposarcoma that is in the mediastinum.Mediastinum NeuroblastomaA malignant mediastinal neurogenic neoplasm that is caused by immature nerve cells.Mediastinum RhabdomyosarcomaA rhabdomyosarcoma that is in the mediastinum and affects children and adolescents.Mediastinum SarcomaA sarcoma and malignant mediastinal mesenchymnal tumor that is in the mediastinum.Mediastinum Synovial SarcomaA synovial sarcoma that is in the mediastinum.Mediastinum TeratomaA teratoma that is in the mediastinum.Medium-Chain Acyl-CoA Dehydrogenase DeficiencyA metabolic disorder affecting fat breakdown.MEDNIK SyndromeA syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.Medullary Colon CarcinomaA colon carcinoma that is characterized by a solid growth pattern.Medullary Thyroid CarcinomaA thyroid gland carcinoma that is caused by parafollicular cells.MedulloblastomaAn infratentorial cancer that is in the lower part of the brain and is a type of primitive neuroectodermal tumor.Medulloblastoma Non-WNT/Non-SHHA medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.Medulloblastoma Non-WNT/Non-SHH Group 3A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.Medulloblastoma Non-WNT/Non-SHH Group 4A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present.Medulloblastoma SHH ActivatedA medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.Medulloblastoma SHH Activated and TP53 MutantA medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.Medulloblastoma SHH Activated and TP53 Wild-TypeA medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.Medulloblastoma WNT ActivatedA medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.Meesmann Corneal DystrophyAn epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.Meesmann Corneal Dystrophy 1A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that is caused by heterozygous mutation in the KRT12 gene on chromosome 17q21.Meesmann Corneal Dystrophy 2A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that is caused by heterozygous mutation in the KRT3 gene on chromosome Meester-Loeys SyndromeA syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, conn MegacolonA colonic disease that is characterized by an abnormal dilation of the colon.Megaconial Type Congenital Muscular DystrophyA congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the f Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsA syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that is caused by heterozygous mutation in the MAST1 gene on chro Megacystis-Microcolon-Intestinal Hypoperistalsis SyndromeA syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.Megalencephalic Leukoencephalopathy with Subcortical CystsA leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, i Megaloblastic AnemiaA macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.MegalocorneaA corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that is caused by mutation in the CHRDL1 gene.MEHMO SyndromeA syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that is caused by hemizy Meibomian CystA blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid.Meier-Gorlin SyndromeA syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.Meier-Gorlin Syndrome 1A Meier-Gorlin syndrome that is caused by homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.Meier-Gorlin Syndrome 10A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that is caused by homozygous mutation in t Meier-Gorlin Syndrome 2A Meier-Gorlin syndrome that is caused by homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23.Meier-Gorlin Syndrome 3A Meier-Gorlin syndrome that is caused by homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11.Meier-Gorlin Syndrome 4A Meier-Gorlin syndrome that is caused by homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.Meier-Gorlin Syndrome 5A Meier-Gorlin syndrome that is caused by homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21.Meier-Gorlin Syndrome 6A Meier-Gorlin syndrome that is caused by heterozygous mutation in the GMNN gene on chromosome 6p22.Meier-Gorlin Syndrome 7A Meier-Gorlin syndrome that is caused by homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.Meier-Gorlin Syndrome 8A Meier-Gorlin syndrome that is caused by compound heterozygous mutation in the MCM5 gene on chromosome 22q12.Meier-Gorlin Syndrome 9A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that is caused by homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21.Meige SyndromeA cranio-facial dystonia that is accompanied by blepharospasm.Melancholic DepressionA major depressive disorder characterized by near-complete absence of pleasure.MelanomaA serious type of skin cancer. Tracking your symptoms and connecting with others who understand can help you manage day to day.Melanoma and Neural System Tumor SyndromeA syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that is caused by heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.Melanoma in Congenital Melanocytic NevusA skin melanoma that arises from a congenital melanocytic nevus.MelasmaBrown or gray patches on the face, often from hormones or sun.MELAS SyndromeA mitochondrial disorder causing strokes and lactic acidosis.MelioidosisA primary bacterial infectious disease that causes infection, is caused by Burkholderia pseudomallei, which is transmitted by contact with the contaminated water or soil. The infection causes fever, causes respiratory di Melnick-Needles SyndromeAn otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and mast Melon AllergyA fruit allergy triggered by Cucumis melo plant fruit food product.MelorheostosisAn osteosclerosis that is caused by a mutation of the LEMD3 gene which causes a hyperdense bony cortex.Melphalan AllergyA drug allergy that triggered by melphalan.Mendez-Johnson Immunoneurologic SyndromeA syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that is caused by homozygous or compound heterozy MEND SyndromeA lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatolog Ménière's DiseaseInner-ear disorder causing vertigo, tinnitus, and hearing loss. Tracking your symptoms and connecting with others who understand can help you manage day to day.Meningeal MelanocytomaA central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges.Meningeal MelanomatosisA central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents).MeningiomaA central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.MeningitisInflammation of the membranes around the brain and spinal cord.MeningoceleA spina bifida that is characterized by herniation of the meninges between the vertebrae.Meningococcal DiseaseA bacterial infection that can cause meningitis.Meningococcal MeningitisA bacterial meningitis that is caused by Neisseria meningitidis infection.MeningoencephalitisA central nervous system disease that involves encephalitis which occurs along with meningitis.Meningovascular NeurosyphilisA tertiary neurosyphilis that results in inflammation in arteries of the brain or in arteries of spinal cord. The infection causes headache, causes neck stiffness, causes dizziness, causes behavioral abnormalities, has s Menkes DiseaseA genetic disorder affecting copper transport.MenopauseThe natural end of menstrual cycles and reproductive hormones. Tracking your symptoms and connecting with others who understand can help you manage day to day.Mepivacaine AllergyA drug allergy that triggered by mepivacaine.Merkel Cell CarcinomaA skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.Meropenem AllergyAn allergic asthma that triggered by meropenem, a beta-lactam antibiotic.Mesenchymal Cell NeoplasmA cell type cancer that is caused by abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and th MesocestoidiasisA parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.MesotheliomaA rare cancer of the lining of the lungs, often from asbestos exposure.Metabolic AcidosisAn acquired metabolic disease that characterized by excessive production of acid.Metabolic Dysfunction-Associated SteatohepatitisA metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.Metabolic SyndromeA cluster of risk factors that raise heart-disease and diabetes risk. Tracking your symptoms and connecting with others who understand can help you manage day to day.MetachondromatosisAn osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that is caused by heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.Metachromatic LeukodystrophyA rare metabolic disorder affecting myelin.MetagonimiasisA parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.Metal AllergyAn allergic disease that is triggered by a metal.Metal Metabolism DisorderAn inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.Metaphyseal DysplasiaAn osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydactyly SyndromeAn osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that is caused by heteroz Metatropic DysplasiaA spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that is c Metatypical Basal Cell CarcinomaA basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma.Methemoglobinemia and Ambiguous GenitaliaA disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal Methyl Isocyanate Allergic AsthmaAn isocyanates allergic asthma that triggered by methyl isocyanate.Methylmalonic AcidemiaAn organic acidemia that involves an accumulation of methylmalonic acid in the blood.Methylmalonic Acidemia and Homocysteinemia CblX TypeA methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that is caused by hemizygous or homozygous muta Methylmalonic Acidemia CblA TypeA methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that is caused by homozygous or compound heterozygous mutation in the Methylmalonic Acidemia CblB TypeA methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that is caused by homozygous or compound heterozygous mutation in the Methylmalonic Acidemia Due to Transcobalamin Receptor DefectA methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that is caused by mutation in Methylmalonic Aciduria and Homocystinuria Type CblCA methylmalonic acidemia that is caused by deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which r Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase DeficiencyA methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that is caused by mutation in the MUT gene on chromosome 6p12.3.Mevalonic AciduriaA peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and is caused by mutation in the MVK gene that results in deficiency of mev MHC Class I DeficiencyA severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops from deficiency or decreased MHC Class II DeficiencyA severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and is Microcephalic Osteodysplastic Primordial Dwarfism Type IAn osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits MicrocephalyA congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.Microcephaly and Chorioretinopathy 1A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and is caused by homozygous or compound heterozygous mutation in the TUBGCP6 gene.Microcephaly and Chorioretinopathy 2A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and is caused by homozygous mutation in the PLK4 gene.Microcephaly and Chorioretinopathy 3A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and is caused by compound heterozygous mutation in the TUBGCP4 gene.Microcephaly, Growth Deficiency, Seizures, and Brain MalformationsA syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that is caused by homozygous mutation in the WDR4 Microcephaly-Micromelia SyndromeA syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that is caused by homozygous mutation in th Microcephaly, Seizures, and Developmental DelayA developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that is caused by homozygous or compound heterozygous mutation in the PNKP gene on chromosom Microcephaly, Short Stature, and Limb AbnormalitiesAn osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that is caused by homozyg Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental RetardationA syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.Microcystic AdenomaA pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.Microcytic AnemiaAn anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.Microglandular AdenosisA breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absen Microinvasive Cervical Squamous Cell CarcinomaA cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5 mm and no wider than 7 mm diameter.MicrolissencephalyA lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.Micronodular Basal Cell CarcinomaA basal cell carcinoma characterized by solid tumor nodules.MicrophthalmiaAn eye disease where one or both eyeballs are abnormally small.Microphthalmia with Limb AnomaliesA syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that is caused by homozyg Microscopic ColitisA colitis that can only be diagnosed by the examination of colon tissue under a microscope.MicrosporidiosisAn opportunistic mycosis that causes systemic fungal infection in immunocompromised people, is caused by Microsporidia phylum members.Microvillus Inclusion DiseaseA congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing Middle Ear AdenocarcinomaA middle ear carcinoma that arises from epithelial cells of glandular origin.Middle Ear AdenomaA sensory organ benign neoplasm that is in the middle ear.Middle Ear CancerAn ear cancer that is in the middle ear.Middle Ear CarcinomaA middle ear cancer that is caused by abnormally proliferating cells arises from epithelial cells.Middle Ear Cholesterol GranulomaA otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone.Middle Ear Squamous Cell CarcinomaA middle ear carcinoma that is caused by squamous cells.Middle East Respiratory SyndromeA Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that is caused by Middle East respiratory syndrome-related coronavirus (MERS-CoV,Middle Lobe SyndromeA lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreig Midface DysplasiaAn osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and NephrocalcinosisA syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that is caused by hemizygous mutation in the AMMECR1 gene on chromosome Xq23.Midline CystoceleA prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall.Mietens SyndromeA syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.MigraineSevere headaches often with nausea and sensitivity to light and sound. Tracking your symptoms and connecting with others who understand can help you manage day to day.Migraine with AuraA migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.Migraine Without AuraA migraine that is characterized by migraine headaches that are not accompanied by an aura.Mikulicz DiseaseAn autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, causes lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an under Mild Cognitive ImpairmentA cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living.Mild Pre-EclampsiaA pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.Mild Variant of Maple Syrup Urine DiseaseA maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that is caused by homozygous mutation in the PPM1K gene on chromosome 4q22.MiliariaA sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.Miliaria CrystallinaA miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is in the stratum corneum.Miliaria ProfundaA miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.Miliaria PustulosaA miliaria that is characterized by pustules resulting from inflammation and bacterial infection.Miliaria RubraA miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.Miliary TuberculosisAn extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.Milk AllergyA food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual.Milker'S NoduleA viral infectious disease that causes infection of cattle and humans, in skin, is caused by Pseudocowpox virus (Parapoxvirus pseudocowpox), which is transmitted by contact with the infected cow teats, or transmitted by Miller-Dieker Lissencephaly SyndromeA syndrome characterized by classical lissencephaly and distinct facial features and is caused by submicroscopic deletions of 17p13.3, including the LIS1 gene.Miller Fisher SyndromeA Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.Mineral Metabolism DiseaseAn acquired metabolic disease that is characterized by abnormal mineral metabolism.Minor Vestibular Glands AdenomaA vestibular gland benign neoplasm that is in the minor vestibular glands and is composed of epithelial tissue in which tumor cells form glands or glandlike structures.Mirror AgnosiaAn agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.Mirror Movements 1A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that is caused by heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance.Mirror Movements 2A congenital mirror movement disorder that is caused by heterozygous mutation in the RAD51 gene on chromosome 15q15.Mirror Movements 3A congenital mirror movement disorder that is caused by homozygous mutation in the DNAL4 gene on chromosome 22q13.Mirror Movements 4A congenital mirror movement disorder that is caused by heterozygous mutation in the NTN1 gene on chromosome 17p13.Mismatch Repair Cancer SyndromeA syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that is caused by homozygous or compound Mitchell SyndromeA peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that is caused by heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.Mite InfestationA parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.Mitochondrial Axonal Charcot-Marie-Tooth DiseaseA Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and late Mitochondrial Complex I DeficiencyA mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Am Mitochondrial Complex II DeficiencyA mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others ha Mitochondrial Complex III DeficiencyA mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.Mitochondrial Complex III Deficiency Nuclear Type 1A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that is caused by homozygous Mitochondrial Complex IV Deficiency Nuclear Type 1A COX deficiency, benign infantile mitochondrial myopathy that is caused by homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.Mitochondrial Complex IV Deficiency Nuclear Type 2A COX deficiency, infantile mitochondrial myopathy that is caused by compound heterozygous mutation in the SCO2 gene on chromosome 22q13.Mitochondrial Complex IV Deficiency Nuclear Type 3A COX deficiency, benign infantile mitochondrial myopathy that is caused by homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.Mitochondrial Complex IV Deficiency Nuclear Type 4A COX deficiency, benign infantile mitochondrial myopathy that is caused by homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1.Mitochondrial Complex IV Deficiency Nuclear Type 6A COX deficiency, infantile mitochondrial myopathy that is caused by compound heterozygous mutation in the COX15 gene on chromosome 10q24.Mitochondrial Complex IV Deficiency Nuclear Type 7A COX deficiency, benign infantile mitochondrial myopathy that is caused by homozygous mutation in the COX6B1 gene on chromosome 19q13.12.Mitochondrial Complex IV Deficiency Nuclear Type 8A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait Mitochondrial Complex IV Deficiency Nuclear Type 9A COX deficiency, infantile mitochondrial myopathy that is caused by homozygous mutation in the COA5 gene on chromosome 2q11.Mitochondrial Complex V (ATP Synthase) DeficiencyA mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.Mitochondrial Complex V (ATP Synthase) Deficiency Mitochondrial Type 1A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that is caused by mutation in mitochondrial gene MTATP6.Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 1A mitochondrial complex V (ATP synthase) deficiency that is caused by mutation in the ATPAF2 gene on chromosome 17p11.Mitochondrial DiseaseA group of disorders affecting cellular energy production.Mitochondrial DNA Depletion SyndromeA mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tiss Mitochondrial DNA Depletion Syndrome 1A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoenc Mitochondrial DNA Depletion Syndrome 11A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficie Mitochondrial DNA Depletion Syndrome 12aA mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and is caused by autosomal dominant inheritance of heterozygous mutation in the solute c Mitochondrial DNA Depletion Syndrome 12bA mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and Mitochondrial DNA Depletion Syndrome 13A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and is caused by autosomal recessive inheritance Mitochondrial DNA Depletion Syndrome 14A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturin Mitochondrial DNA Depletion Syndrome 15A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abn Mitochondrial DNA Depletion Syndrome 16A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that is caused by homozygous mutation in the POLG2 gene on chromosome 17q23.3.Mitochondrial DNA Depletion Syndrome 16BA mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that Mitochondrial DNA Depletion Syndrome 17A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that Mitochondrial DNA Depletion Syndrome 18A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that is caused by homozygous Mitochondrial DNA Depletion Syndrome 19A mitochondrial DNA depletion syndrome that is caused by compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3.Mitochondrial DNA Depletion Syndrome 2A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and is caused by autosomal recessive inheritance of homozygous or Mitochondrial DNA Depletion Syndrome 20A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like Mitochondrial DNA Depletion Syndrome-21A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that is caused by homozygous or Mitochondrial DNA Depletion Syndrome 3A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and is caused by autosomal r Mitochondrial DNA Depletion Syndrome 4bA mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle wea Mitochondrial DNA Depletion Syndrome 5A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and varia Mitochondrial DNA Depletion Syndrome 6A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and is caused by autosomal recessive inheritance of homozygo Mitochondrial DNA Depletion Syndrome 7A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and is caused by autosomal recessive homozygous or compound heterozygous mutat Mitochondrial DNA Depletion Syndrome 8aA mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and is caused by autosomal recessive inheritance of homozygous or compound heterozygous m Mitochondrial DNA Depletion Syndrome 8bA mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and is caused b Mitochondrial DNA Depletion Syndrome 9A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, an Mitochondrial Metabolism DiseaseAn inherited metabolic disorder that involves mitochondrial metabolism dysfunction.Mitochondrial MyopathyA myopathy that is characterized by mitochondrial dysfunction.Mitochondrial Myopathy and AtaxiaA mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that is caused by homozyg Mitochondrial Neurodevelopmental Disorder with Abnormal Movements and Lactic Acidosis, with or WithoAn autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity tha Mitochondrial Nonsyndromic Sensorineural DeafnessA sensorineural hearing loss that is caused by mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI.Mitochondrial Pyruvate Carrier DeficiencyA mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and is caused Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 DeficiencyA mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has Mitochondrial Trifunctional Protein DeficiencyA lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skel Mitochondrial Trifunctional Protein Deficiency 1A mitochondrial trifunctional protein deficiency that is caused by homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mu Mitochondrial Trifunctional Protein Deficiency 2A mitochondrial trifunctional protein deficiency that is caused by homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.Mitochondrial Type Mitochondrial Complex I DeficiencyA mitochondrial complex I deficiency that is caused by mutation in a gene in the mitochondrial genome.Mitral Valve ProlapseA heart valve that doesn't close smoothly.Mitral Valve StenosisA mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.Miura Type Epiphyseal ChondrodysplasiaA bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13.Mixed Cell AdenomaAn adenoma that is caused by more than one cell type.Mixed Cell Type CancerA cell type cancer that is caused by abnormally proliferating cells arises from two germinal layers of tissue.Mixed Cerebral PalsyA cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speak Mixed Connective Tissue DiseaseAn autoimmune disorder with features of lupus, scleroderma, and myositis.Mixed Endometrial Stromal and Smooth Muscle TumorA uterine corpus cancer that is caused by endometrial stroma and smooth muscle cells.Mixed Epithelial/Mesenchymal Metaplastic Breast CarcinomaA breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components.Mixed Epithelial Tumor of OvaryAn ovarian benign neoplasm that is biphasic and is caused by epithelial and mesenchymal elements.Mixed Extragonadal Germ Cell CancerA mixed germ cell cancer that is in areas of the body other than the ovary or testicle.Mixed Fibrolamellar Hepatocellular CarcinomaA fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.Mixed Germ Cell CancerA germ cell cancer that occurs in many forms.Mixed Gonadal DysgenesisA gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad an Mixed LiposarcomaA liposarcoma characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcom Mixed MalariaA malaria that involves infection with more than one species of Plasmodium at the same time.Mixed Mineral Dust PneumoconiosisA pneumoconiosis caused by the inhalation of mixed mineral dust particles.Mixed Mucinous and Nonmucinous Bronchioloalveolar AdenocarcinomaA bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin).Mixed Phenotype Acute Leukemia, B/MyeloidAn acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.Mixed Phenotype Acute Leukemia, T/MyeloidAn acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.Mixed Phenotype Acute Leukemia with BCR-ABL1An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.Mixed Phenotype Acute Leukemia with MLL RearrangedAn acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.Mixed Receptive-Expressive Language DisorderA communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe.Mixed Sleep ApneaA sleep apnea that is characterized by a combination of central and obstructive sleep apnea.Mixed Testicular Germ Cell TumorA mixed germ cell cancer that is in the testis.Miyoshi Muscular DystrophyA distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.Miyoshi Muscular Dystrophy 1A Miyoshi muscular dystrophy that is caused by mutation in the DYSF gene on chromosome 2p13.Miyoshi Muscular Dystrophy 2A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that is caused by a locus on chromosome 10.Miyoshi Muscular Dystrophy 3A Miyoshi muscular dystrophy that is caused by mutation in the ANO5 gene on chromosome 11p14.MLS SyndromeA syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients Moebius SyndromeA facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).Mollusc AllergyA shellfish allergy triggered by Mollusca.Molluscum ContagiosumA viral skin infection causing small, firm bumps.Molybdenum Cofactor DeficiencyA metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.Molybdenum Cofactor Deficiency Type aA molybdenum cofactor deficiency that is caused by homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.Molybdenum Cofactor Deficiency Type BA molybdenum cofactor deficiency that is caused by homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.Molybdenum Cofactor Deficiency Type CA molybdenum cofactor deficiency that is caused by homozygous mutation in the GPHN gene on chromosome 14q23.MonieziasisA parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep.MonilethrixA hair disease that is characterized by short, easily broken hair that results in alopecia and is caused by mutations in genes for type II hair cortex keratins.Monilethrix 1A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that is caused by heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13.Monilethrix 2A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that is caused by hetero Monilethrix 3A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that is caused by heterozygous mutation in the KRT83 gene on chromosome 12q13.Monoclonal Gammopathy of Uncertain SignificanceA blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.Monocular EsotropiaAn esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance.Monocyte, Dendritic Cell, and NK Cell DeficiencyA combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells.Monocytic LeukemiaA myeloid leukemia that is characterized by a dominance of monocytes in the marrow.Monodermal TeratomaAn ovarian germ cell teratoma that is caused by a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).Monogenic DiseaseA genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.Mononen-Karnes-Senac SyndromeA brachydactyly characterized by short, abducted thumbs and great toes.MononeuropathyA neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.MononucleosisA viral infection causing fatigue, sore throat, and swollen glands.Mood DisorderA cognitive disorder that involves a disturbance in mood as the predominant underlying feature.Mooren'S UlcerA corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema.Morgagni CataractA senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile Morphine DependenceAn opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.Mosaic Variegated Aneuploidy SyndromeA syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes.Mosaic Variegated Aneuploidy Syndrome 1A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and th Mosaic Variegated Aneuploidy Syndrome 2A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that is caused by homozygous or compound heterozygous mutation in the CEP57 gene on chromo Mosaic Variegated Aneuploidy Syndrome 3A mosaic variegated aneuploidy syndrome that is caused by homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.Mosaic Variegated Aneuploidy Syndrome 4A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that is caused by compound heterozygous mutation in the C Mosaic Variegated Aneuploidy Syndrome 7 with Inflammation and Tumor PredispositionA mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that is caused by compound heterozygous mutation in the MAD1L1 gene Motility-Related DiarrheaA diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absor Motor Neuron DiseaseA neurodegenerative disease that is in the motor neurons.Motor Peripheral NeuropathyA neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.Movement DiseaseA brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.Mowat-Wilson SyndromeA syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and is caused by de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.Moyamoya DiseaseA rare disorder causing narrowing of brain arteries.MpoxA viral infectious disease that results in infection of primates, rodents and humans, located in skin, is caused by Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body Mu Chain DiseaseA heavy chain disease that results from an overproduction of mu antibody (IgM).MucinosesA connective tissue disease characterized by accumulation of glycosaminoglycan in the dermal tissue.Mucinous AdenocarcinomaAn adenocarcinoma that arises from epithelial cells originating in glandular tissue, which produce mucin.Mucinous AdenofibromaAn adenofibroma that is characterized by the presence of mucin.Mucinous Bronchioloalveolar AdenocarcinomaA bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.Mucinous CystadenocarcinomaA cystadenocarcinoma that arises from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.Mucinous Cystadenocarcinoma of PancreasA pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreat Mucinous CystadenofibromaA cystadenofibroma that is characterized by the presence of mucin.Mucinous Lung AdenocarcinomaA lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces.Mucinous Ovarian CystadenomaAn ovarian cystadenoma that is characterized by the presence of mucin.Mucinous Pancreas AdenocarcinomaA pancreatic adenocarcinoma that arises from epithelial cells originating in glandular tissue, which produce mucin.Mucin-Rich Endometrial Endometrioid AdenocarcinomaAn endometrial adenocarcinoma that is characterized by the presence of abundant mucin.Muckle-Wells SyndromeA syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that is caused by heterozygous mutation in the NLRP3 gene on chromosome 1q44.Mucocutaneous LeishmaniasisA leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Lei Mucoepidermoid CarcinomaA carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.MucolipidosisA lipid storage disease that is characterized by increased storage of carbohydrates and lipids.Mucolipidosis II Alpha/BetaA mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accu Mucolipidosis III Alpha/BetaA mucolipidosis that is caused by mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.Mucolipidosis III GammaA mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that is caused by homozygous or compound heterozygous mutation in the GNPTG gene, which encodes th Mucolipidosis Type IVA mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.MucopolysaccharidosesA group of metabolic disorders from enzyme deficiencies.MucopolysaccharidosisA lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.Mucopolysaccharidosis IA mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.Mucopolysaccharidosis IhA mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced Mucopolysaccharidosis Ih/SA mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no in Mucopolysaccharidosis IIA mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.Mucopolysaccharidosis IIIA mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.Mucopolysaccharidosis IVA mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.Mucopolysaccharidosis IVAA mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that is caused by Mucopolysaccharidosis IXA mucopolysaccharidosis characterized by a deficiency in hyaluronidase.Mucopolysaccharidosis Type IIIAA mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that is caused by homozygous or compound heterozygous mutation in t Mucopolysaccharidosis Type IIIBA mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that is caused by homozygous or compound heterozygous mutation in NAGLU on chromosome 17 Mucopolysaccharidosis Type IIICA mucopolysaccharidosis III that is caused by homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.Mucopolysaccharidosis Type IIIDA mucopolysaccharidosis III that is caused by homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.Mucopolysaccharidosis Type IVBA mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that is caused by homozygous or compound heterozygous mutation in the GLB1 gene on chromos Mucopolysaccharidosis Type VIIA mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.Mucopolysaccharidosis VIA mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.Mucopolysaccharidosis XA mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that is caused by homozygous or compound MucormycosisAn opportunistic mycosis that causes fungal infection in sinuses, in brain, or in lungs of immunocompromised people, is caused by Mucorales molds.Mucosal MelanomaA melanoma that is caused by melanocytes in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.MucositisA gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.MucosulfatidosisA sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and is caused by mutation in the SUMF1 gene that results in deficiency in multiple sulfatase en Muenke SyndromeA craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that is caused by a pro250 to agr (P250R) heterozygous mutation Muir-Torre SyndromeA Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that is caused by mutations in DNA mismatch repair genes.Mulchandani-Bhoj-Conlin SyndromeA syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that is caused by heterozygous mutation in an imprinting region on chrom Mulibrey NanismA syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and is caused by mutations in the TRIM37 gene.Mullegama-Klein-Martinez SyndromeA syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic Mullerian Aplasia and HyperandrogenismA disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that is caused by heterozygous mutation in the WNT4 gene on chromosome 1p36.12.Multicentric Carpotarsal Osteolysis SyndromeA syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that is caused by heterozygous mutation in the MAFB gene on chromosome 20q12.Multicentric Castleman DiseaseA Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6.Multicentric Papillary Thyroid CarcinomaA papillary thyroid carcinoma arising in the thyroid gland from multiple foci.Multicentric ReticulohistiocytosisA syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.Multidrug-Resistant TuberculosisA tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.Multifocal DystoniaA dystonia that involves two or more unrelated body parts.Multifocal Motor NeuropathyA rare disorder causing progressive muscle weakness.Multinodular and Vacuolating Neuronal TumorA central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.Multinodular GoiterA goiter characterized by a multinodular enlargement of the thyroid gland.Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and HydranencephalyA syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplas Multiple Acyl-CoA Dehydrogenase DeficiencyAn inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive i Multiple Benign Circumferential Skin Creases on LimbsA skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.Multiple Carboxylase DeficiencyAn amino acid metabolic disorder that involves failures of carboxylation enzymes.Multiple Chemical SensitivityA syndrome that is an adverse physical reaction to low levels of many common chemicals.Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeA lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.Multiple Cutaneous and Mucosal Venous MalformationsA vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that is caused by heterozygous mutation in the TEK gene on chromosome 9p21.Multiple Endocrine NeoplasiaA syndrome that is characterized by tumors in at least two endocrine glands.Multiple Endocrine Neoplasia Type 1A multiple endocrine neoplasia that is caused by a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary glan Multiple Endocrine Neoplasia Type 2AA multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.Multiple Endocrine Neoplasia Type 2BA multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.Multiple Endocrine Neoplasia Type 4A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that is caused by mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of f Multiple Epiphyseal DysplasiaAn osteochondrodysplasia that is caused by defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has sympt Multiple Epiphyseal Dysplasia 1A multiple epiphyseal dysplasia that is caused by heterozygous mutation in the COMP gene on chromosome 19p13.Multiple Epiphyseal Dysplasia 2A multiple epiphyseal dysplasia due to collagen 9 anomaly that is caused by heterozygous mutation in the COL9A2 gene on chromosome 1p34.Multiple Epiphyseal Dysplasia 3A multiple epiphyseal dysplasia due to collagen 9 anomaly that is caused by heterozygous mutation in the COL9A3 gene on chromosome 20q13.Multiple Epiphyseal Dysplasia 4A multiple epiphyseal dysplasia that is caused by homozygous mutation in the SLC26A2 gene on chromosome 5q32.Multiple Epiphyseal Dysplasia 5A multiple epiphyseal dysplasia that is caused by heterozygous mutation in the MATN3 gene on chromosome 2p24.Multiple Epiphyseal Dysplasia 6A multiple epiphyseal dysplasia due to collagen 9 anomaly that is caused by heterozygous mutation in the COL9A1 gene on chromosome 6p13.Multiple Epiphyseal Dysplasia 7A multiple epiphyseal dysplasia that is caused by homozygous mutation in the CANT1 gene on chromosome 17q25.Multiple Epiphyseal Dysplasia Due to Collagen 9 AnomalyA multiple epiphyseal dysplasia that is caused by mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).Multiple Epiphyseal Dysplasia with Myopia and DeafnessA syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that is caused by heterozygous mutation in the COL2A1 gene o Multiple Familial Trichoepithelioma 1A facial dermatosis that is caused by heterozygous mutation in the CYLD gene on chromosome 16q12.Multiple Intestinal AtresiaAn intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that is caused by homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21.Multiple Mitochondrial Dysfunctions SyndromeA mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment.Multiple Mitochondrial Dysfunctions Syndrome 1A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and is caused by autosomal recessive inheritance of Multiple Mitochondrial Dysfunctions Syndrome 10A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning diffic Multiple Mitochondrial Dysfunctions Syndrome 2A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head Multiple Mitochondrial Dysfunctions Syndrome 3A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and is caused by autosomal recessive inheritance of homoz Multiple Mitochondrial Dysfunctions Syndrome 4A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus,Multiple Mitochondrial Dysfunctions Syndrome 5A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizure Multiple Mitochondrial Dysfunctions Syndrome 6A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in Multiple Mitochondrial Dysfunctions Syndrome 7A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epile Multiple Mitochondrial Dysfunctions Syndrome 9BA multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and s Multiple MyelomaCancer of plasma cells in the bone marrow. Tracking your symptoms and connecting with others who understand can help you manage day to day.Multiple Personality DisorderA dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.Multiple SclerosisThe immune system attacks the protective covering of nerves. Tracking your symptoms and connecting with others who understand can help you manage day to day.Multiple Synostoses SyndromeA dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin u Multiple Synostoses Syndrome 1A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper Multiple Synostoses Syndrome 2A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conduct Multiple Synostoses Syndrome 3A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin Multiple Synostoses Syndrome 4A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that is caused by heterozygous mutation in the GDF6 gene on chromosome 8q22.Multiple System AtrophyA rare, progressive disorder affecting movement and autonomic functions.Multiple Types of Congenital Heart Defects 6A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that is caused by heterozygous mutation in the GD Multisystem Inflammatory Syndrome in ChildrenA Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multi Multisystem ProteinopathyA motor neuron disease that is caused by some inheritance and affects muscle, bone, and the nervous system.Mulvihill-Smith SyndromeA progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development.MumpsA viral infection causing swollen salivary glands.Munchausen by ProxyA factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.Murray Valley EncephalitisA viral infectious disease that causes inflammation in brain, is caused by Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted by Culex annulirostris mosquitoes. The infection causes fever Muscle CancerA musculoskeletal system cancer that is in muscle.Muscle Dysmorphic DisorderA body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build.Muscle Glycogen Storage DiseaseA glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that is caused by homozygous mutation in the GYS1 gene which encodes muscle gly Muscular DystrophyA myopathy is characterized by progressive skeletal muscle weakness degeneration.Muscular Dystrophy-DystroglycanopathyA congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.Muscular Dystrophy-Dystroglycanopathy Type BA muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.Muscular Dystrophy-Dystroglycanopathy Type B1A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and is caused by mutation to the POMT1 gene that encodes O-mannosyltransferase.Muscular Dystrophy-Dystroglycanopathy Type B14A muscular dystrophy-dystroglycanopathy type B that is caused by homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.Muscular Dystrophy-Dystroglycanopathy Type B15A muscular dystrophy-dystroglycanopathy type B that is caused by homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.Muscular Dystrophy-Dystroglycanopathy Type B2A muscular dystrophy-dystroglycanopathy type B that is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.Muscular Dystrophy-Dystroglycanopathy Type B3A muscular dystrophy-dystroglycanopathy type B that is caused by homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.Muscular Dystrophy-Dystroglycanopathy Type B4A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that is caused by homozygous or compound h Muscular Dystrophy-Dystroglycanopathy Type B5A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that is caused by homozygous o Muscular Dystrophy-Dystroglycanopathy Type B6A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that is caused by homozygous or compound heterozygous muta Muscular Dystrophy-Dystroglycanopathy Type C12A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that is caused by homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p Muscular Dystrophy-Dystroglycanopathy Type C8A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that is caused by homozygous or co Musculoskeletal System Benign NeoplasmAn organ system benign neoplasm that is in the muscular and skeletal organs.Musculoskeletal System CancerAn organ system cancer in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.Mushroom Workers' LungAn extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost Mutilating Palmoplantar Keratoderma with Periorificial Keratotic PlaquesA keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.MutismA speech disorder that involves a complete inability to speak.Myasthenia GravisMuscle weakness that worsens with activity. Tracking your symptoms and connecting with others who understand can help you manage day to day.Mycobacterium Avium Complex DiseaseA primary bacterial infectious disease that causes infection, is caused by Mycobacterium avium complex (MAC), which is transmitted by inhalation or transmitted by ingestion of via the respiratory or gastrointestinal trac Mycoplasma Pneumoniae PneumoniaA bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.Mycotic Corneal UlcerA corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhi MyelitisA spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.Myelodysplastic/Myeloproliferative NeoplasmA myeloid neoplasm that causes the overproduction of white blood cells.Myelodysplastic SyndromeA group of disorders where the bone marrow doesn't make enough healthy cells.MyelofibrosisScarring of the bone marrow that disrupts blood cell production.Myeloid and Lymphoid Neoplasms Associated with FGFR1 AbnormalitiesA myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint.Myeloid and Lymphoid Neoplasms Associated with PDGFRA RearrangementA myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusi Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, and FGFR1A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.Myeloid LeukemiaA leukemia that is in myeloid tissue.Myeloid Leukemia Associated with Down SyndromeAn acute megakaryocytic leukemia occurring in children with Down syndrome and that is caused by mutation in the GATA1 gene.Myeloid NeoplasmA bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.MyelomeningoceleA spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.Myelophthisic AnemiaAn aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.Myeloproliferative Disorder with EosinophiliaA myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that is caused by a fusion of the ETV6 and PDGFRB genes formed by a transloca Myeloproliferative NeoplasmA group of disorders where bone marrow makes too many cells.MYH-9 Related DiseaseA blood platelet disease that is caused by mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.MyiasisA parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.Myocardial InfarctionA coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.MyocarditisInflammation of the heart muscle, often from a viral infection.Myoclonic-Atonic EpilepsyAn generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and t Myoclonic DystoniaA dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of Myoclonic Dystonia 11A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and is caused by autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromoso Myoclonic Dystonia 15A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and is caused by autosomal dominant inheritance of variation in the chromosome region 18p11.Myoclonic Dystonia 26A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and is caused by autosomal dominant inheritanc Myoclonic Dystonia 34A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that is caused by heterozygous mutation in the KCNN2 gene on chromosome 5q22.Myoclonic Epilepsy with Ragged Red FibersA rare mitochondrial disorder.MyoclonusSudden, brief involuntary muscle jerks.Myoepithelial CarcinomaA carcinoma that arises from myoepithelial cells.MyoepitheliomaA sweat gland benign neoplasm that is composed of outgrowths of myoepithelial cells from a sweat gland.Myofibrillar MyopathyA myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.Myofibrillar Myopathy 1A myofibrillar myopathy that is caused by heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.Myofibrillar Myopathy 10A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that is caused by homozygous or compound heterozygous mutation in the SVIL gene on chro Myofibrillar Myopathy 11A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that is caused by homozygous or compound heterozygous mutation in the UNC45B gene on c Myofibrillar Myopathy 13 with Rimmed VacuolesA myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that is caused by heterozygous Myofibrillar Myopathy 3A myofibrillar myopathy that is caused by heterozygous mutation in the MYOT gene on chromosome 5q31.Myofibrillar Myopathy 4A myofibrillar myopathy that is caused by heterozygous mutation in the ZASP gene on chromosome 10.Myofibrillar Myopathy 5A myofibrillar myopathy that is caused by heterozygous mutation in the FLNC gene on chromosome 7q32.Myofibrillar Myopathy 6A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle we Myofibrillar Myopathy 7A myofibrillar myopathy that is caused by homozygous mutation in the KY gene on chromosome 3q22.Myofibrillar Myopathy 8A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and is c Myofibrillar Myopathy 9A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that is caused by heterozygous mutation in the TTN gene on chr MyoglobinuriaA myopathy that is characterized by an increased urinary excretion of myoglobin.MyomaA muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.MyopathyA muscular disease in which the muscle fibers do not function resulting in muscular weakness.Myopathy, Lactic Acidosis, and Sideroblastic AnemiaA mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1A myopathy, lactic acidosis, and sideroblastic anemia that is caused by homozygous or compound heterozygous mutation in PUS1 on 12q24.Myopathy with Extrapyramidal SignsA myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that is caused by compound heterozygou Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or Without Episodic Rhabdomyolysis A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that is caused by homozygous or compound MyopiaNearsightedness - close objects are clear, distant ones are blurry.MyositisInflammation of the muscles.Myositis OssificansA myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.Myostatin-Related Muscle HypertrophyA muscle tissue disease characterized by increased muscle bulk and strength that is caused by homozygous mutation in the MSTN gene on chromosome 2q32.2.Myotonia CongenitaA muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.Myotonic CataractA cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy.Myotonic DiseaseA muscular dystrophy that is characterized by progressive muscle wasting and weakness.Myotonic Dystrophy Type 1A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and is caused by Myotonic Dystrophy Type 2A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and is caused by the autosomal Myringitis Bullosa HemorrhagicaA tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.MyxofibrosarcomaA sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.Myxoid Glioneuronal TumorA central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and Myxoid LeiomyosarcomaA leiomyosarcoma that is characterized by abundant myxoid stroma.Myxoid LiposarcomaA liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and is caused by chromosomal translocations.Myxoid Liposarcoma of the OvaryA myxoid liposarcoma that is in the ovary.

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