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Disease	Synonyms	Description
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	methylmalonic aciduria mut type; methylmalonic aci.. [+] methylmalonic aciduria mut type; methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; vitamin B12-unresponsive methylmalonic aciduria [-]	A methylmalonic acidemia characterized by accumula..[+] A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. [-]
methylmalonic acidemia due to transcobalamin receptor defect	methylmalonic aciduria due to transcobalamin recep.. [+] methylmalonic aciduria due to transcobalamin receptor defect; methylmalonic acidemia, TCbIR type; methylmalonic acidemia, TCb1R type; methylmalonic acidemia, TCblR type [-]	A methylmalonic acidemia characterized by autosoma..[+] A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. [-]
methylmalonic acidemia cb1A type	methylmalonic aciduria, vitamin B12-responsive due.. [+] methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type; methylmalonic aciduria cb1A type [-]	A methylmalonic acidemia characterized by autosoma..[+] A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. [-]
methylmalonic acidemia cblB type	methylmalonic aciduria cblB type; methylmalonic ac.. [+] methylmalonic aciduria cblB type; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; methylmalonic aciduria cb1B type [-]	A methylmalonic acidemia characterized by autosoma..[+] A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. [-]
microvillus inclusion disease	MVD; congenital familial protracted diarrhea with .. [+] MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; intractable diarrhea of infancy [-]	A congenital diarrhea characterized by onset of in..[+] A 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 microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
MEHMO syndrome	MRXS20; MRXS25; mental retardation, epileptic seiz.. [+] MRXS25; MRXS20; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; syndromic X-linked mental retardation 20; syndromic X-linked mental retardation 25; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. [-]
Miles-Carpenter syndrome	MRXS4; mental retardation, X-linked, with congenit.. [+] MRXS4; mental retardation, X-linked, with congenital contractures and low fingertip arches; mental retardation, X-linked, syndromic 4; MCS; X-linked intellectual disability, Miles-Carpenter type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. [-]
microphthalmia with limb anomalies	MLA; anophthalmia-syndactyly syndrome; OAS; ophtha.. [+] MLA; anophthalmia-syndactyly syndrome; OAS; ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome [-]	A syndrome that is characterized by autosomal rece..[+] A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. [-]
mal de Meleda	Meleda disease; keratosis palmoplantaris transgred.. [+] Meleda disease; keratosis palmoplantaris transgrediens of Siemens; transgrediens palmoplantar keratoderma of Siemens [-]	A palmoplantar keratosis characterized by autosoma..[+] A 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 has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. [-]
macrocephaly-autism syndrome	macrocephaly-intellectual disability-autism syndro.. [+] macrocephaly-intellectual disability-autism syndrome [-]	An autosomal dominant disease characterized by mac..[+] An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. [-]
myeloid neoplasm	myeloma	A bone marrow cancer that is formed of any one of ..[+] A bone marrow cancer that is formed of any one of the bone marrow cells \nbelonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. [-]
mental retardation, autosomal dominant 20	MRD20; autosomal dominant mental retardation 20	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3. [-]
Meckel syndrome 1	MKS1; Meckel-Gruber syndrome, type 1	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22. [-]
Meckel syndrome 2	MKS2; Meckel-Gruber syndrome, type 2	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. [-]
Meckel syndrome 3	MKS3; Meckel-Gruber syndrome, type 3	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1. [-]
Meckel syndrome 4	MKS4; Meckel-Gruber syndrome, type 4	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. [-]
Meckel syndrome 5	MKS5; Meckel-Gruber syndrome, type 5	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. [-]
Meckel syndrome 6	MKS6; Meckel-Gruber syndrome, type 6	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32. [-]
Meckel syndrome 7	MKS7; Meckel-Gruber syndrome, type 7	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1. [-]
Meckel syndrome 8	MKS8; Meckel-Gruber syndrome, type 8	A Meckel syndrome that has_material_basis_in an au..[+] A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31. [-]
Miyoshi muscular dystrophy 3	MMD3; Miyoshi myopathy 3	A Miyoshi muscular dystrophy that has_material_bas..[+] A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. [-]
multiple epiphyseal dysplasia 5	multiple epiphyseal dysplasia MATN3-related; BHMED.. [+] multiple epiphyseal dysplasia MATN3-related; BHMED; bilateral hereditary microepiphyseal dysplasia; EDM5 [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
multiple epiphyseal dysplasia 7	EDM7	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. [-]
mitochondrial DNA depletion syndrome	mtDNA depletion syndrome	A mitochondrial metabolism disease that is charact..[+] A 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 tissues and organs. [-]
mitochondrial DNA depletion syndrome 16B	mitochondrial DNA depletion syndrome 16B (neurooph.. [+] mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A 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 has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 7	MC5DN7	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. [-]
muscular disease		A musculoskeletal system disease that affects the ..[+] A musculoskeletal system disease that affects the muscles. [-]
metaphyseal dysplasia	Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn s.. [+] Bakwin-Krida syndrome; Pyle's disease; Pyle-Cohn syndrome [-]	An osteochondrodysplasia that results_in thinning ..[+] An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. [-]
myofibrillar myopathy 1	desminopathy	n_a
myofibrillar myopathy 2	alpha-b crystallinopathy	n_a
myofibrillar myopathy 3	myotilinopathy	n_a
myofibrillar myopathy 4	zaspopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. [-]
myofibrillar myopathy 5	filaminopathy	n_a
myofibrillar myopathy 6	BAG3-related myofibrillar myopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. [-]
myofibrillar myopathy 7	alpha-b crystalin-related fatal infantile hyperton.. [+] alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy [-]	n_a
myopathy, lactic acidosis, and sideroblastic anemia		n_a
microcephaly and chorioretinopathy 1		A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. [-]
microcephaly and chorioretinopathy 2		A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. [-]
microcephaly and chorioretinopathy 3		A syndrome that is characterized by congenital mic..[+] A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. [-]
myoglobinuria		A myopathy that is characterized by an increased u..[+] A myopathy that is characterized by an increased urinary excretion of myoglobin. [-]
mitochondrial complex III deficiency nuclear type 1		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. [-]
mitochondrial complex III deficiency nuclear type 3		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. [-]
mitochondrial complex III deficiency nuclear type 4		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. [-]
mitochondrial complex III deficiency nuclear type 5		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. [-]
mitochondrial complex III deficiency nuclear type 6		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. [-]
mitochondrial complex III deficiency nuclear type 7		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. [-]
mitochondrial complex III deficiency nuclear type 8		A mitochondrial complex III deficiency characteriz..[+] A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. [-]
mitochondrial complex III deficiency nuclear type 9		A mitochondrial complex III deficiency that has_ma..[+] A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. [-]
mitochondrial DNA depletion syndrome 1		n_a
mitochondrial DNA depletion syndrome 2		n_a

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