| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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dimethylglycine dehydrogenase deficiency
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DMG dehydrogenase deficiency
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An amino acid metabolic disorder that is character.. [+]An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14.
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D-bifunctional protein deficiency
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A peroxisomal disease characterized by, in severe .. [+]A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
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dystonia 5
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A dystonia characterized by childhood-onset dyston.. [+]A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13.
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dystonia 9
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A dystonia that is characterized by paroxysmal cho.. [+]A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
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1 articles
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dystonia 21
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A dystonia characterized by late onset pure torsio.. [+]A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.
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dystonia 16
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A multifocal dystonia that is characterized by ear.. [+]A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.
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1 articles
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dystonia 27
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A segmental dystonia characterized by autosomal re.. [+]A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.
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dystonia 23
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A focal dystonia characterized by adult-onset cerv.. [+]A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.
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dystonia 24
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A focal dystonia that is characterized by focal dy.. [+]A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.
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dystonia 25
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A multifocal dystonia that is characterized by cer.. [+]A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.
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dystonia 12
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A dystonia that is characterized by asymmetric dys.. [+]A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
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2 articles
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Donnai-Barrow syndrome
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DBS/FOAR syndrome; diaphragmatic hernia, exomphalo..
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DBS/FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; facio-oculo-acoustico-renal syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; FOAR syndrome; faciooculoacousticorenal syndrome
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A syndrome that is characterized by facial and ocu.. [+]A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
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dopamine beta-hydroxylase deficiency
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norepinephrine deficiency; noradrenaline deficienc..
[+]norepinephrine deficiency; noradrenaline deficiency; congenital dopamine beta-hydroxylase deficiency
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An inherited metabolic disorder characterized by d.. [+]An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
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dominant pericentral pigmentary retinopathy
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A retinitis pigmentosa that is characterized pigme.. [+]A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
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dilated cardiomyopathy 1C
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dilated cardiomyopathy 1C with or without left ven..
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dilated cardiomyopathy 1C with or without left ventricular noncompaction; CMDC1
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A dilated cardiomyopathy that has_material_basis_i.. [+]A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.
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dilated cardiomyopathy 1CC
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CMD1CC
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A dilated cardiomyopathy that has_material_basis_i.. [+]A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1.
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dilated cardiomyopathy 1A
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dilated cardiomyopathy with conduction defect 1; C..
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dilated cardiomyopathy with conduction defect 1; CDCD1; CMD1A; familial dilated cardiomyopathy with conduction defect due to LMNA mutation
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A dilated cardiomyopathy that has_material_basis_i.. [+]A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
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dilated cardiomyopathy 1D
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CMD1D
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A dilated cardiomyopathy that has_material_basis_i.. [+]A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.
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dilated cardiomyopathy 1V
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CMD1V
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A dilated cardiomyopathy that has_material_basis_i.. [+]A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.
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dilated cardiomyopathy 1AA
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dilated cardiomyopathy 1AA with or without left ve..
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dilated cardiomyopathy 1AA with or without left ventricular noncompaction; CMD1AA
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A dilated cardiomyopathy that has_material_basis_i.. [+]A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43.
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