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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. [-]
diffuse leptomeningeal glioneuronal tumor	Diffuse leptomeningeal glioneuronal tumour	A central nervous system benign neoplasm that is c..[+] A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. [-]
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. [-]
dimethylglycine dehydrogenase deficiency	DMG dehydrogenase deficiency	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. [-]
Dent disease 1		A Dent disease that is characterized by manifestat..[+] A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. [-]
Dent disease 2		A Dent disease that is characterized by low molecu..[+] A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. [-]
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 dying 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. [-]

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