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Disease	Synonyms	Description
dextro-looped transposition of the great arteries	D-TGA; congenitally uncorrected transposition of t.. [+] D-TGA; congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; isolated ventriculoarterial discordance; ventriculoarterial discordance with atrioventricular concordance [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]
dextro-looped transposition of the great arteries 1	DTGA1	A dextro-looped transposition of the great arterie..[+] A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. [-]
dextro-looped transposition of the great arteries 3	DTGA3	A dextro-looped transposition of the great arterie..[+] A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. [-]
deafness-intellectual disability, Martin-Probst type syndrome	Martin-Probst syndrome; mental retardation, X-link.. [+] Martin-Probst syndrome; mental retardation, X-linked, syndromic, Martin-Probst type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. [-]
developmental and epileptic encephalopathy 109	DEE109	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. [-]
developmental and epileptic encephalopathy 99	DEE99; early infantile epileptic encephalopathy 99.. [+] DEE99; early infantile epileptic encephalopathy 99 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. [-]
developmental and epileptic encephalopathy 101	DEE101; early infantile epileptic encephalopathy 1.. [+] DEE101; early infantile epileptic encephalopathy 101 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 105	DEE105; early infantile epileptic encephalopathy 1.. [+] DEE105; early infantile epileptic encephalopathy 105 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. [-]
developmental and epileptic encephalopathy 107	DEE107; early infantile epileptic encephalopathy 1.. [+] DEE107; early infantile epileptic encephalopathy 107 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. [-]
diphthamide deficiency syndrome 2	developmental delay with short stature, dysmorphic.. [+] developmental delay with short stature, dysmorphic facial features, and sparse hair 2; DEDSSH2 [-]	A diphthamide deficiency syndrome that has_materia..[+] A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. [-]
dysbaric osteonecrosis	DON; Caisson disease of bone	An ischemic bone disease the has_material_basis_in..[+] An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. [-]
duodenal atresia		An intestinal atresia that is characterized by con..[+] An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. [-]
dystransthyretinemic hyperthyroxinemia		A hyperthyroxinemia that is characterized by an in..[+] A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. [-]
developmental and epileptic encephalopathy 56	DEE56; early infantile epileptic encephalopathy 56.. [+] DEE56; early infantile epileptic encephalopathy 56 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. [-]
developmental and epileptic encephalopathy 58	DEE58; early infantile epileptic encephalopathy 58.. [+] DEE58; early infantile epileptic encephalopathy 58 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. [-]
desmoid tumor		A connective tissue benign neoplasm that occur mos..[+] A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. [-]
developmental and epileptic encephalopathy 18	DEE18; early infantile epileptic encephalopathy 18.. [+] DEE18; early infantile epileptic encephalopathy 18 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. [-]
developmental and epileptic encephalopathy 54	DEE54; early infantile epileptic encephalopathy 54.. [+] DEE54; early infantile epileptic encephalopathy 54 [-]	A developmental and epileptic encephalopathy chrar..[+] A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. [-]
developmental and epileptic encephalopathy 62	DEE62; early infantile epileptic encephalopathy 62.. [+] DEE62; early infantile epileptic encephalopathy 62 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. [-]
developmental and epileptic encephalopathy 44	DEE44; early infantile epileptic encephalopathy 44.. [+] DEE44; early infantile epileptic encephalopathy 44 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. [-]
developmental and epileptic encephalopathy 19	DEE19; early infantile epileptic encephalopathy 19.. [+] DEE19; early infantile epileptic encephalopathy 19 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 51	DEE51; early infantile epileptic encephalopathy 51.. [+] DEE51; early infantile epileptic encephalopathy 51 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. [-]
developmental and epileptic encephalopathy 5	DEE5; early infantile epileptic encephalopathy 5	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 3	early infantile epileptic encephalopathy 3	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. [-]
developmental and epileptic encephalopathy 49	DEE49; early infantile epileptic encephalopathy 49.. [+] DEE49; early infantile epileptic encephalopathy 49 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. [-]
developmental and epileptic encephalopathy 21	DEE21; early infantile epileptic encephalopathy 21.. [+] DEE21; early infantile epileptic encephalopathy 21 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. [-]
developmental and epileptic encephalopathy 48	DEE48; early infantile epileptic encephalopathy 48.. [+] DEE48; early infantile epileptic encephalopathy 48 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. [-]
developmental and epileptic encephalopathy 17	DEE17; early infantile epileptic encephalopathy 17.. [+] DEE17; early infantile epileptic encephalopathy 17 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. [-]
developmental and epileptic encephalopathy 42	DEE42; early infantile epileptic encephalopathy 42.. [+] DEE42; early infantile epileptic encephalopathy 42 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. [-]
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. [-]
differentiated thyroid gland carcinoma		A thyroid gland adenocarcinoma characterized by ex..[+] A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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). [-]
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 autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of 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 heterozygous mutation in the GCH1 gene on chromosome 14q13. [-]
dystonia 9		A dystonia characterized by autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. [-]
dystonia 21		A dystonia characterized by autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of late onset pure torsion dystonia that has_material_basis_in variation in the chromosome region 2q14.3-q21.3. [-]
dystonia 16		A multifocal dystonia characterized by autosomal r..[+] A multifocal dystonia characterized by autosomal recessive inheritance of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism that has_material_basis_in homozygous mutation in the PRKRA gene on chromosome 2q31. [-]
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 compound heterozygous mutation in the COL6A3 gene on chromosome 2q37. [-]
dystonia 23		A focal dystonia characterized by autosomal domina..[+] A focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has_material_basis_in 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 characterized by autosomal d..[+] A multifocal dystonia characterized by autosomal dominant inheritance of cervical, laryngeal and hand-forearm dystonia that has_material_basis_in 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. [-]

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