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Disease	Synonyms	Description	Articles
developmental and epileptic encephalopathy 52	DEE52; early infantile epileptic encephalopathy 52.. [+] DEE52; early infantile epileptic encephalopathy 52 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. [-]
developmental and epileptic encephalopathy 46	DEE46; early infantile epileptic encephalopathy 46.. [+] DEE46; early infantile epileptic encephalopathy 46 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. [-]
developmental and epileptic encephalopathy 35	DEE35; early infantile epileptic encephalopathy 35.. [+] DEE35; early infantile epileptic encephalopathy 35; ITPA-related encephalopathy [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. [-]
developmental and epileptic encephalopathy 12	DEE12; early infantile epileptic encephalopathy 12.. [+] DEE12; early infantile epileptic encephalopathy 12 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. [-]
developmental and epileptic encephalopathy 34	DEE34; early infantile epileptic encephalopathy 34.. [+] DEE34; early infantile epileptic encephalopathy 34 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. [-]
developmental and epileptic encephalopathy 26	DEE26; early infantile epileptic encephalopathy 26.. [+] DEE26; early infantile epileptic encephalopathy 26 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. [-]
developmental and epileptic encephalopathy 7	early infantile epileptic encephalopathy 7; KCNQ2-.. [+] early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. [-]
developmental and epileptic encephalopathy 33	DEE33; early infantile epileptic encephalopathy 33.. [+] DEE33; early infantile epileptic encephalopathy 33 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. [-]
developmental and epileptic encephalopathy 53	DEE53; early infantile epileptic encephalopathy 53.. [+] DEE53; early infantile epileptic encephalopathy 53 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. [-]
developmental and epileptic encephalopathy 30	DEE30; early infantile epileptic encephalopathy 30.. [+] DEE30; early infantile epileptic encephalopathy 30 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. [-]
developmental and epileptic encephalopathy 2	DEE2; EIEE2; X-linked infantile spasm syndrome 2; .. [+] DEE2; EIEE2; X-linked infantile spasm syndrome 2; early infantile epileptic encephalopathy 2 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. [-]	1 articles
developmental and epileptic encephalopathy 1	DEE1; early infantile epileptic encephalopathy 1; .. [+] DEE1; early infantile epileptic encephalopathy 1; X-linked infantile spasm syndrome 1 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. [-]
developmental and epileptic encephalopathy 36	congenital disorder of glycosylation, type Is; ear.. [+] congenital disorder of glycosylation, type Is; early infantile epileptic encephalopathy 36 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. [-]
developmental and epileptic encephalopathy 92		A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 91	infantile or early childhood epileptic encephalopa.. [+] infantile or early childhood epileptic encephalopathy 1 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. [-]
developmental delay and seizures with or without movement abnormalities		A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. [-]
dedifferentiated liposarcoma		A liposarcoma that is characterized as a high-grad..[+] A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. [-]
developmental cardiac valvular defect		A physical disorder that has_material_basis_in hom..[+] A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. [-]
diaphyseal medullary stenosis with malignant fibrous histiocytoma	diaphyseal medullary stenosis-malignant fibrous hi.. [+] diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; bone dysplasia-medullary fibrosarcoma syndrome; Hardcastle syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. [-]
diffuse midline glioma, H3 K27M-mutant	diffuse intrinsic pontine glioma	A histone mutated tumor that is characterized by t..[+] A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. [-]
developmental and epileptic encephalopathy 82	DEE82; early infantile epileptic encephalopathy 82.. [+] DEE82; early infantile epileptic encephalopathy 82 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. [-]
diffuse gastric cancer		A stomach cancer that is characterized by developm..[+] A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. [-]
delta beta-thalassemia		A beta thalassemia that is characterized by decrea..[+] A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. [-]
diffuse glioma, H3 G34 mutant		A histone mutated tumor that has_material_basis_in..[+] A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. [-]
dialysis-related amyloidosis	dialysis-related beta2-microglobulin amyloidosis; .. [+] dialysis-related beta2-microglobulin amyloidosis; ABeta2M amyloidosis; Amyloidosis Beta2M; Aβ2M amyloidosis; Beta2-microglobulinic amyloidosis [-]	An amyloidosis that is characterized by the deposi..[+] An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. [-]
diffuse large B-cell lymphoma activated B-cell type	DLBCL ABC type	A diffuse large B-cell lymphoma that is characteri..[+] A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. [-]
diffuse large B-cell lymphoma germinal center B-cell type		A diffuse large B-cell lymphoma that is characteri..[+] A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. [-]
dipsogenic diabetes insipidus		A diabetes insipidus that is characterized by exce..[+] A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. [-]
DICER1 syndrome	Pleuro-pulmonary blastoma familial tumor susceptib.. [+] Pleuro-pulmonary blastoma familial tumor susceptibility; Pleuro-pulmonary blastoma familial tumor susceptibility syndrome; Pleuropulmonary blastoma familial tumor susceptibility syndrome; PPB familial tumor susceptibility syndrome [-]	A syndrome that is characterized by an increased r..[+] A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. [-]
DeSanto-Shinawi syndrome	Chromosome 10p12-p11 deletion syndrome; Facial dys.. [+] Chromosome 10p12-p11 deletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome [-]	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. [-]
dilated cardiomyopathy 1LL		A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. [-]
dilated cardiomyopathy 1MM		A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. [-]
dilated cardiomyopathy 2C		A dilated cardiomyopathy that is characterized by ..[+] A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. [-]
dilated cardiomyopathy 2D		A dilated cardiomyopathy that is characterized by ..[+] A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. [-]
dilated cardiomyopathy 2E		A dilated cardiomyopathy that is characterized by ..[+] A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. [-]
dilated cardiomyopathy 2F		A dilated cardiomyopathy that is characterized by ..[+] A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. [-]
dilated cardiomyopathy 2G		A dilated cardiomyopathy that is characterized by ..[+] A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. [-]
dilated cardiomyopathy 3B		A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. [-]
dedifferentiated chondrosarcoma		A chondrosarcoma that is an aggressive morphologic..[+] A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. [-]
desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma	desmoplastic infantile ganglioglioma and desmoplas.. [+] desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma; desmoplastic infantile ganglioglioma; Desmoplastic Infantile Astrocytoma [-]	A ganglioglioma occurring predominantly in the cer..[+] A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. [-]
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. [-]

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