| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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MC5DN2; neonatal mitochondrial encephalocardiomyop..
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MC5DN2; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
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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.
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mitochondrial complex V (ATP synthase) deficiency nuclear type 3
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MC5DN3
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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.
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mitochondrial complex V (ATP synthase) deficiency nuclear type 4
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MC5DN4
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A mitochondrial complex V (ATP synthase) deficienc.. [+]A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1.
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microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
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microcephaly, lymphedema, chorioretinal dysplasia ..
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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
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A syndrome characterized by variable expression of.. [+]A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
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mitochondrial complex III deficiency nuclear type 2
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MC3DN2
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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.
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multiple acyl-CoA dehydrogenase deficiency
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MAD deficiency; MADD; electron transfer flavoprote..
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MADD; MAD deficiency; electron transfer flavoprotein deficiency; glutaric acidemia type 2; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; glutaric aciduria type 2
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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.
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mandibulofacial dysostosis with alopecia
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MFDA
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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.
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Meesmann corneal dystrophy
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MECD; juvenile hereditary epithelial dystrophy; St..
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MECD; juvenile hereditary epithelial dystrophy; Stocker-Holt dystrophy
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An epithelial and subepithelial dystrophy that is .. [+]An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.
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Miller-Dieker lissencephaly syndrome
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Miller-Dieker syndrome; MDS
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A syndrome characterized by classical lissencephal.. [+]A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
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1 articles
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myoclonic-atonic epilepsy
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EEOC; childhood onset epileptic encephalopathy
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An idiopathic generalized epilepsy characterized b.. [+]An idiopathic 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 that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
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4 articles
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MEDNIK syndrome
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mental retardation, enteropathy, deafness, neuropa..
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mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type
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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.
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Mowat-Wilson syndrome
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microcephaly, mental retardation, and distinct fac..
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microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease; Hirschsprung disease mental retardation syndrome
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A syndrome characterized by distinctive facial fea.. [+]A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
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metal allergy
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An allergic disease that is triggered by a metal.
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melon allergy
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Cucumis melo fruit allergy
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A fruit allergy triggered by Cucumis melo plant fr.. [+]A fruit allergy triggered by Cucumis melo plant fruit food product.
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mollusc allergy
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A shellfish allergy triggered by Mollusca.
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mitochondrial complex I deficiency
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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
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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.
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mitochondrial complex II deficiency
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isolated mitochondrial respiratory chain complex I..
[+]isolated mitochondrial respiratory chain complex II deficiency; isolated succinate-ubiquinone reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated succinate-CoQ reductase deficiency
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A mitochondrial metabolism disease characterized b.. [+]A 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 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.
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microcephalic osteodysplastic primordial dwarfism type I
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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
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An osteochondrodysplasia that is a form of microce.. [+]An 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 and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
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1 articles
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microcephalic osteodysplastic primordial dwarfism type II
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Majewski osteodysplastic primordial dwarfism type ..
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Majewski osteodysplastic primordial dwarfism type II; osteodysplastic primordial dwarfism type II
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An osteochondrodysplasia that is a form of microce.. [+]An osteochondrodysplasia that is a form of 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.
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2 articles
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megacystis-microcolon-intestinal hypoperistalsis syndrome
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megacystis-microcolon-intestinal hypoperistalsis s..
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megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH; Megacystis microcolon intestinal hypoperistalsis syndrome; visceral myopathy; Berdon syndrome
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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.
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