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Disease	Synonyms	Description
midface dysplasia		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. [-]
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	MC5DN1	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. [-]
Meckel syndrome	Meckel-Gruber syndrome	A ciliopathy that is characterized by renal cystic..[+] A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. [-]
multiple cutaneous and mucosal venous malformations	mucocutaneous venous malformations; cutaneomucosal.. [+] mucocutaneous venous malformations; cutaneomucosal venous malformation; VMCM [-]	A vein disease that is characterized by multiple b..[+] A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. [-]
multiple synostoses syndrome		A dysostosis that is characterized by premature jo..[+] A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. [-]
mucopolysaccharidosis IX		A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. [-]
Matthew-Wood syndrome	microphthalmia syndromic type 9; MCOPS9	An autosomal genetic disease that is characterized..[+] An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. [-]
multifocal dystonia		A dystonia that involves two or more unrelated bod..[+] A dystonia that involves two or more unrelated body parts. [-]
Muckle-Wells syndrome		n_a
Marshall-Smith syndrome		A syndrome that is characterized by advanced bone ..[+] A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [-]
medulloblastoma	Medulloblastoma, histologically defined; brain med.. [+] Medulloblastoma, histologically defined; brain medulloblastoma; CNS PNET; CPNET; infratentorial primitive neuroectodermal tumor; localized primitive neuroectodermal tumor [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]
mixed extragonadal germ cell cancer		A mixed germ cell cancer that is located_in areas ..[+] A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. [-]
myelodysplastic syndrome		A bone marrow cancer that is characterized by unde..[+] A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. [-]
mucosal melanoma		A melanoma that has_material_basis_in melanocytes ..[+] A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. [-]
MHC class I deficiency	bare lymphocyte syndrome type I; BLS, TYPE I; BLSI.. [+] bare lymphocyte syndrome type I; BLS, TYPE I; BLSI; HLA CLASS I DEFICIENCY [-]	A severe combined immunodeficiency that is charact..[+] A 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 surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. [-]
Munchausen by proxy		A factitious disorder that involves a care giver's..[+] A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. [-]
male reproductive organ benign neoplasm		n_a
musculoskeletal system benign neoplasm		An organ system benign neoplasm that is located_in..[+] An organ system benign neoplasm that is located_in the muscular and skeletal organs. [-]
musculoskeletal system cancer	skeletal system cancer	An organ system cancer located_in the muscular and..[+] An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. [-]
mu chain disease		A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of mu antibody (IgM). [-]
mirror agnosia		An agnosia that is a loss of the ability to acknow..[+] An 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. [-]
microscopic colitis		A colitis that can only be diagnosed_by the examin..[+] A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. [-]
Maffucci syndrome		A syndrome characterized by the presence of multip..[+] A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. [-]
Mast syndrome	autosomal recessive spastic paraplegia 21; autosom.. [+] autosomal recessive spastic paraplegia 21; autosomal recessive spastic paraplegia type 21; hereditary spastic paraplegia 21; SPG21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
MASA syndrome	CRASH syndrome; Gareis-Mason syndrome; hereditary .. [+] CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1 [-]	A hereditary spastic paraplegia that is characteri..[+] A 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 moderate range. [-]
megalocornea	anterior megalophthalmos; congenital anterior mega.. [+] anterior megalophthalmos; congenital anterior megalophthalmia [-]	A corneal disease that is characterized by a bilat..[+] A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. [-]
Meier-Gorlin syndrome	ear-patella-short stature syndrome	An autosomal recessive disorder characterized by s..[+] An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. [-]
mastoiditis		A middle ear disease characterized by an inflammat..[+] A 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. [-]
myelomeningocele		A spina bifida characterized by protrusion of the ..[+] A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 2	MC5DN2; neonatal mitochondrial encephalocardiomyop.. [+] MC5DN2; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency [-]	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the TMEM70 gene on chromosome 8q21. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 3	MC5DN3	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4	MC5DN4	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5A1 gene on chromosome 18q. [-]
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	microcephaly, lymphedema, chorioretinal dysplasia .. [+] microcephaly, lymphedema, chorioretinal dysplasia syndrome; microcephaly lymphedema chorioretinal dysplasia; chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; lymphedema, microcephaly and chorioretinopathy syndrome [-]	A syndrome characterized byvariable expression of ..[+] A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [-]
mitochondrial complex III deficiency nuclear type 2	MC3DN2	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. [-]
multiple acyl-CoA dehydrogenase deficiency	MAD deficiency; MADD; electron transfer flavoprote.. [+] MADD; MAD deficiency; electron transfer flavoprotein deficiency; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; glutaric acidemia type 2; glutaric aciduria type 2 [-]	An inherited metabolic disorder characterized by t..[+] An 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 inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [-]
mandibulofacial dysostosis with alopecia	MFDA	A syndrome characterized_by malar and mandibular h..[+] A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. [-]
Meesmann corneal dystrophy	MECD; juvenile hereditary epithelial dystrophy; St.. [+] MECD; juvenile hereditary epithelial dystrophy; Stocker-Holt dystrophy [-]	n_a
Miller-Dieker lissencephaly syndrome	Miller-Dieker syndrome; MDS	A syndrome characterized by classical lissencephal..[+] A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. [-]
MEDNIK syndrome	mental retardation, enteropathy, deafness, neuropa.. [+] mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type [-]	A syndrome characterized by mental retardation, en..[+] A 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. [-]
Mowat-Wilson syndrome	microcephaly, mental retardation, and distinct fac.. [+] microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease; Hirschsprung disease mental retardation syndrome [-]	A syndrome characterized by a distinct facial phen..[+] A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. [-]
metal allergy		A hypersensitivity reaction type I disease trigger..[+] A hypersensitivity reaction type I disease triggered by a metal. [-]
melon allergy	Cucumis melo fruit allergy	A fruit allergy triggered by Cucumis melo plant fr..[+] A fruit allergy triggered by Cucumis melo plant fruit food product. [-]
mollusc allergy		A shellfish allergy triggered by Mollusca.
mitochondrial complex I deficiency	isolated mitochondrial respiratory chain complex I.. [+] isolated mitochondrial respiratory chain complex I deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-ubiquinone reductase deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A 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. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. [-]
mitochondrial complex II deficiency	isolated mitochondrial respiratory chain complex I.. [+] isolated mitochondrial respiratory chain complex II deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated succinate-CoQ reductase deficiency; isolated succinate-ubiquinone reductase deficiency [-]	A mitochondrial metabolism disease characerized by..[+] A mitochondrial metabolism disease characerized 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 have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. [-]
microcephalic osteodysplastic primordial dwarfism type I	brachymelic primordial dwarfism; cephaloskeletal d.. [+] brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. [-]
microcephalic osteodysplastic primordial dwarfism type II	Majewski osteodysplastic primordial dwarfism type .. [+] Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. [-]
megacystis-microcolon-intestinal hypoperistalsis syndrome	Berdon syndrome; visceral myopathy	A syndrome that is characterized by marked dilatat..[+] A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. [-]
MYH-9 related disease		A blood platelet disease that has_material_basis_i..[+] A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. [-]
Muenke Syndrome	FGFR3-related craniosynostosis	A craniosyntosis characterized by autosomal domina..[+] A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. [-]

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