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Disease	Synonyms	Description
mitochondrial DNA depletion syndrome 3	deoxyguanosine kinase deficiency	A mitochondrial DNA depletion syndrome that is cha..[+] A 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 has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. [-]
mitochondrial DNA depletion syndrome 4a		n_a
mitochondrial DNA depletion syndrome 4b	mitochondrial neurogastrointestinal encephalopathy.. [+] mitochondrial neurogastrointestinal encephalopathy syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. [-]
mitochondrial DNA depletion syndrome 5		n_a
mitochondrial DNA depletion syndrome 6		n_a
mitochondrial DNA depletion syndrome 7		n_a
mitochondrial DNA depletion syndrome 8a		n_a
mitochondrial DNA depletion syndrome 9	fatal infantile lactic acidosis	A mitochondrial DNA depletion syndrome that is cha..[+] A 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, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. [-]
mitochondrial DNA depletion syndrome 11		n_a
mitochondrial DNA depletion syndrome 12a		A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. [-]
mitochondrial DNA depletion syndrome 13		n_a
multiple mitochondrial dysfunctions syndrome 1		n_a
multiple mitochondrial dysfunctions syndrome 2	multiple mitochondrial dysfunctions syndrome 2 wit.. [+] multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; BOLA3 deficiency [-]	A multiple mitochondrial dysfunctions syndrome tha..[+] A 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 control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. [-]
multiple mitochondrial dysfunctions syndrome 3		n_a
multiple mitochondrial dysfunctions syndrome 4		n_a
multiple endocrine neoplasia type 4	Multiple Endocrine Neoplasia, Type IV	n_a
multiple congenital anomalies-hypotonia-seizures syndrome 1		n_a
multiple congenital anomalies-hypotonia-seizures syndrome 2		n_a
multiple congenital anomalies-hypotonia-seizures syndrome 3	M syndrome; light fixation seizure syndrome	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. [-]
mosaic variegated aneuploidy syndrome 1		n_a
mosaic variegated aneuploidy syndrome 2		n_a
medium chain acyl-CoA dehydrogenase deficiency		A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. [-]
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1	Myeloid and Lymphoid Neoplasms with Eosinophilia a.. [+] Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2; Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms [-]	A myeloid neoplasm that is characterized by the fo..[+] A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. [-]
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	Myeloid and Lymphoid Neoplasms with PDGFRA Rearran.. [+] Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement [-]	A myeloid and lymphoid neoplasms with eosinophilia..[+] A 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 fusion transcripts. [-]
myeloid neoplasms associated with PDGFRB rearrangement	Myeloid and Lymphoid Neoplasms with PDGFRB Rearran.. [+] Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement [-]	A myeloid and lymphoid neoplasms with eosinophilia..[+] A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. [-]
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities		A myeloid and lymphoid neoplasms with eosinophilia..[+] A 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. [-]
meningococcal meningitis		A bacterial meningitis that has_material_basis_in ..[+] A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. [-]
mucositis		A gastrointestinal system disease that is characte..[+] A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. [-]
mixed fibrolamellar hepatocellular carcinoma		A fibrolamellar carcinoma that is characteirzed by..[+] A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. [-]
medullary colon carcinoma		A colon carcinoma that is characterized by a solid..[+] A colon carcinoma that is characterized by a solid growth pattern. [-]
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	mixed mucinous and non-mucinous bronchioloalveolar.. [+] mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma; indeterminate bronchioloalveolar carcinoma [-]	A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). [-]
mucinous bronchioloalveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is chara..[+] A 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. [-]
malignant hemangioma		A cell type cancer of vascular origin, characteriz..[+] A cell type cancer of vascular origin, characterized by proliferation of endothelial cells in and about the vascular lumen. [-]
malignant epithelioid hemangioendothelioma		A malignant hemangioma characterized by the presen..[+] A 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. [-]
Marinesco-Sjogren syndrome	Marinesco-Garland syndrome; Garland-Moorhouse synd.. [+] Marinesco-Garland syndrome; Garland-Moorhouse syndrome; hereditary oligophrenic cerebello-lental degeneration [-]	An autosomal recessive disease characterized by co..[+] An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
mandibulofacial dysostosis, Guion-Almeida type	MFDM syndrome; mandibulofacial dysostosis-microcep.. [+] MFDM syndrome; mandibulofacial dysostosis-microcephaly syndrome; mandibulofacial dysostosis with microcephaly [-]	A syndrome characterized by progressive microcepha..[+] A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. [-]
Meier-Gorlin syndrome 8		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. [-]
multiple mitochondrial dysfunctions syndrome 5		A multiple mitochondrial dysfunctions syndrome tha..[+] A 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 seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. [-]
megalencephalic leukoencephalopathy with subcortical cysts 2A		A megalencephalic leukoencephalopathy with subcort..[+] A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. [-]
mucolipidosis		A lipid storage disease that is characterized by i..[+] A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. [-]
Meier-Gorlin syndrome 1		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. [-]
Meier-Gorlin syndrome 5		A Meier-Gorlin syndrome that has_material_basis_in..[+] A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21. [-]
medulloblastoma SHH activated and TP53 wild-type	Medulloblastoma SHH-Activated TP53-Wildtype	A medulloblastoma SHH activated that is characteri..[+] A 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 non-WNT/non-SHH group 3		A medulloblastoma non-WNT/non-SHH that is characte..[+] A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. [-]
mucinous pancreas adenocarcinoma		A pancreatic adenocarcinoma that derives_from epit..[+] A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. [-]
mammary analogue secretory carcinoma		A salivary gland carcinoma that has_material_basis..[+] A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. [-]
microcephaly, growth deficiency, seizures, and brain malformations		A syndrome that is characterized by intrauterine g..[+] A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. [-]
myxoid glioneuronal tumor	Myxoid glioneuronal tumour	A central nervous system benign neoplasm that is c..[+] A 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 periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. [-]
multinodular and vacuolating neuronal tumor		A central nervous system benign neoplasm that is c..[+] A 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. [-]
myoclonic dystonia		A dystonia characterized by myoclonic jerks affect..[+] A dystonia 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 of second decade of life. [-]

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