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Disease	Synonyms	Description	Articles
diffuse low-grade glioma, MAPK pathway–altered		A low grade glioma that is characterized by a gene..[+] A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. [-]
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome		A syndrome that is characterized by developmental ..[+] A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). [-]
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	diffuse paediatric-type high-grade glioma, H3-wild.. [+] diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [-]	A high grade glioma that is characterized by the a..[+] A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. [-]
diffuse astrocytoma, MYB- or MYBL1-altered		A diffuse astrocytoma that is a diffusely infiltra..[+] A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. [-]
developmental and epileptic encephalopathy 94		A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. [-]
distal myopathy with rimmed vacuoles		A distal myopathy that is characterized by adult o..[+] A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. [-]
disabling pansclerotic morphea	disabling pansclerotic morphea of childhood	A localized scleroderma that is characterized by t..[+] A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. [-]
D-bifunctional protein deficiency		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. [-]
dystonia 5		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. [-]
dystonia 9		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. [-]	1 articles
dystonia 21		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. [-]
dystonia 16		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. [-]	1 articles
dystonia 27		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. [-]
dystonia 23		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. [-]
dystonia 24		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. [-]
dystonia 25		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. [-]
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. [-]
dilated cardiomyopathy 1P	CMD1P	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. [-]
dilated cardiomyopathy 1J	autosomal dominant dilated cardiomyopathy with sen.. [+] autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; CMD1J; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. [-]
dilated cardiomyopathy 2B	CMD2B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. [-]
dilated cardiomyopathy 1Q	CMD1Q	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. [-]
dilated cardiomyopathy 1B	CMD1B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. [-]
dilated cardiomyopathy 1X	dilated cardiomyopathy with mild or no proximal mu.. [+] dilated cardiomyopathy with mild or no proximal muscle weakness; CMD1X [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. [-]
dilated cardiomyopathy 1KK	CMD1KK	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. [-]
dilated cardiomyopathy 1W	CMD1W	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. [-]
dilated cardiomyopathy 1DD	CMD1DD	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. [-]
dilated cardiomyopathy 1HH	CMD1HH	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. [-]
dilated cardiomyopathy 1M	CMD1M	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. [-]
dilated cardiomyopathy 1II	CMD1II	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. [-]
dilated cardiomyopathy 1O	dilated cardiomyopathy with ventricular tachycardi.. [+] dilated cardiomyopathy with ventricular tachycardia; CMD1O [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. [-]
dilated cardiomyopathy 1T	CMD1T	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. [-]

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