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Disease	Synonyms	Description	Articles
dystonia 12		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. [-]	2 articles
Donnai-Barrow syndrome	DBS/FOAR syndrome; diaphragmatic hernia, exomphalo.. [+] 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 [-]	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. [-]
dopamine beta-hydroxylase deficiency	norepinephrine deficiency; noradrenaline deficienc.. [+] norepinephrine deficiency; noradrenaline deficiency; congenital dopamine beta-hydroxylase deficiency [-]	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. [-]
dominant pericentral pigmentary retinopathy		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. [-]
dilated cardiomyopathy 1C	dilated cardiomyopathy 1C with or without left ven.. [+] dilated cardiomyopathy 1C with or without left ventricular noncompaction; CMDC1 [-]	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. [-]
dilated cardiomyopathy 1CC	CMD1CC	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. [-]
dilated cardiomyopathy 1A	dilated cardiomyopathy with conduction defect 1; C.. [+] dilated cardiomyopathy with conduction defect 1; CDCD1; CMD1A; familial dilated cardiomyopathy with conduction defect due to LMNA mutation [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
dilated cardiomyopathy 1D	CMD1D	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. [-]
dilated cardiomyopathy 1V	CMD1V	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. [-]
dilated cardiomyopathy 1AA	dilated cardiomyopathy 1AA with or without left ve.. [+] dilated cardiomyopathy 1AA with or without left ventricular noncompaction; CMD1AA [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. [-]
dilated cardiomyopathy 1H	dilated cardiomyopathy with conduction defect; CMD.. [+] dilated cardiomyopathy with conduction defect; CMD1H [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. [-]
dilated cardiomyopathy 1G	CMD1G	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. [-]
dilated cardiomyopathy 1I	CMD1I	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. [-]
dilated cardiomyopathy 1NN	CMD1NN	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. [-]
dilated cardiomyopathy 1E	dilated cardiomyopathy with conduction disorder an.. [+] dilated cardiomyopathy with conduction disorder and arrhythmia; dilated cardiomyopathy with conduction defect 2; CDCD2; CMD1E [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. [-]
dilated cardiomyopathy 1Z	CMD1Z	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. [-]
dilated cardiomyopathy 1GG	CMD1GG	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. [-]
dilated cardiomyopathy 1L	CMD1L	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. [-]
dilated cardiomyopathy 1K	CMD1K	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. [-]
dilated cardiomyopathy 1JJ	CMD1JJ	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. [-]

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