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Disease	Synonyms	Description	Articles
dicarboxylic aminoaciduria	glutamate-aspartate transport defect	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. [-]	1 articles
Doyne honeycomb retinal dystrophy	Doyne honeycomb degeneration of retina; DHRD	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. [-]
Duane-radial ray syndrome	Duane anomaly with radial ray abnormalities and de.. [+] Duane anomaly with radial ray abnormalities and deafness; DR syndrome; acrorenocular syndrome; Okihiro syndrome [-]	A syndrome characterized by upper limb anomalies, ..[+] A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. [-]
dextro-looped transposition of the great arteries	D-TGA; DTGA1; congenitally uncorrected transpositi.. [+] DTGA1; 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. [-]	1 articles
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 9	DEE9; early infantile female-limited epilecptic en.. [+] DEE9; early infantile female-limited epilecptic encephalopathy; EFMR; female restricted epilepsy with mental retardation; EIEE9; early infantile epileptic encephalopathy 9; Juberg Hellman syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
developmental dysplasia of the hip		A bone development disease characterized by abnorm..[+] A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. [-]
developmental dysplasia of the hip 1	DDH1	A developmental dysplasia of the hip that is chara..[+] A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. [-]
developmental dysplasia of the hip 2	DDH2	A developmental dysplasia of the hip that is chara..[+] A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. [-]
developmental delay, dysmorphic facies, and brain anomalies	DEVDFB	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. [-]
dystonia 28, childhood-onset	DYT28; DYSTONIA 28, CHILDHOOD-ONSET	A dystonia characterized by onset of progressive d..[+] A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. [-]
dystonia 30	DYT30	A dystonia characterized by the onset of symptoms ..[+] A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. [-]
dystonia 31	DYT31; ZECH-BOESCH SYNDROME	A dystonia characterized by age at onset ranges fr..[+] A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. [-]
dystonia 32	DYT32	A dystonia characterized by onset of symptoms in ..[+] A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. [-]
dystonia 33		A dystonia characterized by a neurologic disorder..[+] A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. [-]
dystonia 35, childhood-onset		A dystonia characterized by the onset of a dystoni..[+] A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. [-]
dystonia 37, early-onset with striatal lesions		A dystonia characterized by the onset of progressi..[+] A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. [-]
dystonia, DOPA-responsive	DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION; DY.. [+] DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT; Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; GTPCH1-deficient DRD; Hereditary progressive dystonia with marked diurnal fluctuation; HPD with marked diurnal fluctuation [-]	A dystonia characterized by generalized dystonia, ..[+] A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. [-]
dystonia 22, juvenile-onset		A dystonia characterized by progressive, generaliz..[+] A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. [-]
dystonia 22, adult-onset		A dystonia characterized by focal dystonia or trem..[+] A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. [-]
distal myopathy 1	Distal myopathy type 1; Gowers disease; Laing dist.. [+] Distal myopathy type 1; Gowers disease; Laing distal myopathy; Laing early-onset distal myopathy; MPD1 [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. [-]
dry beriberi		A beriberi that is located_in the nervous system a..[+] A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. [-]
developmental and epileptic encephalopathy 64	DEE64; early infantile epileptic encephalopathy 64.. [+] DEE64; early infantile epileptic encephalopathy 64 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. [-]
developmental and epileptic encephalopathy 31B	DEE31B	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 96	DEE96	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. [-]
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 6B	DEE6B	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. [-]
developmental and epileptic encephalopathy 85	DEE85; early infantile epileptic encephalopathy 85.. [+] DEE85; early infantile epileptic encephalopathy 85 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. [-]
developmental and epileptic encephalopathy 90	DEE90	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. [-]
developmental and epileptic encephalopathy 95	DEE95; early infantile epileptic encephalopathy 95.. [+] DEE95; early infantile epileptic encephalopathy 95 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. [-]
developmental and epileptic encephalopathy 97	DEE97; early infantile epileptic encephalopathy 97.. [+] DEE97; early infantile epileptic encephalopathy 97 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. [-]
developmental and epileptic encephalopathy 98	DEE98; early infantile epileptic encephalopathy 98.. [+] DEE98; early infantile epileptic encephalopathy 98 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. [-]
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 100	DEE100; early infantile epileptic encephalopathy 1.. [+] DEE100; early infantile epileptic encephalopathy 100 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. [-]
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 102	DEE102; early infantile epileptic encephalopathy 1.. [+] DEE102; early infantile epileptic encephalopathy 102 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. [-]
developmental and epileptic encephalopathy 103	DEE103; early infantile epileptic encephalopathy 1.. [+] DEE103; early infantile epileptic encephalopathy 103 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. [-]
developmental and epileptic encephalopathy 104	DEE104; early infantile epileptic encephalopathy 1.. [+] DEE104; early infantile epileptic encephalopathy 104 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. [-]
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 106	DEE106; early infantile epileptic encephalopathy 1.. [+] DEE106; early infantile epileptic encephalopathy 106 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. [-]
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. [-]
developmental and epileptic encephalopathy 108	DEE108; early infantile epileptic encephalopathy 1.. [+] DEE108; early infantile epileptic encephalopathy 108 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. [-]
developmental and epileptic encephalopathy 110	DEE110; early infantile epileptic encephalopathy 1.. [+] DEE110; early infantile epileptic encephalopathy 110 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. [-]
developmental delay, hypotonia, and impaired language	DEDHIL	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. [-]
diphthamide deficiency syndrome	developmental delay with short stature, dysmorphic.. [+] developmental delay with short stature, dysmorphic facial features, and sparse hair; DEDSSH; craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome [-]	An inherited metabolic disorder characterized by g..[+] An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). [-]
diphthamide deficiency syndrome 1	DPH1 syndrome; developmental delay with short stat.. [+] DPH1 syndrome; developmental delay with short stature, dysmorphic facial features, and sparse hair 1; DEDSSH1; Loucks-Innes syndrome [-]	A diphthamide deficiency syndrome that has_materia..[+] A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. [-]
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. [-]
dopamine transporter deficiency syndrome	DTDS	A movement disease characterized by parkinsonism-d..[+] A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. [-]
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. [-]

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