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Disease	Synonyms	Description	Articles	Phenotypes
Diamond-Blackfan anemia 12	DBA12; RPL15-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. [-]
Diamond-Blackfan anemia 13	DBA13; RPS29-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. [-]
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	DBA14;	A Diamond-Blackfan anemia characterized by Diamond..[+] A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. [-]
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	DBA15;	A Diamond-Blackfan anemia characterized by Diamond..[+] A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. [-]
Diamond-Blackfan anemia 16	DBA16; RPL27-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. [-]
Diamond-Blackfan anemia 17	DBA17; RPS27-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. [-]
Diamond-Blackfan anemia 18	DBA18; RPL18-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. [-]
Diamond-Blackfan anemia 19	DBA19; RPL35-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. [-]
Diamond-Blackfan anemia 2	DBA2;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. [-]
Diamond-Blackfan anemia 20	DBA20; RPS15A-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. [-]
Diamond-Blackfan anemia 4	DBA4; RPS17-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. [-]
Diamond-Blackfan anemia 5	DBA5; RPL35A-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. [-]
Diamond-Blackfan anemia 6	DBA6; RPL5-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. [-]
Diamond-Blackfan anemia 7	DBA7; RPL11-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. [-]
Diamond-Blackfan anemia 8	DBA8; RPS7-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. [-]
Diamond-Blackfan anemia 9	DBA9; RPS10-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. [-]
Diamond-blackfan anemia 3	DBA3; RPS24-related Diamond-Blackfan anemia;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. [-]
Dieulafoy lesion	Dieulafoy lesion (hemorrhagic) of intestine; dieul.. [+] Dieulafoy lesion (hemorrhagic) of intestine; dieulafoy lesion (hemorrhagic) of stomach and duodenum; [-]	n_a
Donnai-Barrow syndrome	diaphragmatic hernia-exomphalos-hypertelorism synd.. [+] diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; faciooculoacousticorenal syndrome; DBS/FOAR 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. [-]
Donohue syndrome	Leprechaunism;	A syndrome that is characterized by protuberant an..[+] A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. [-]
Dowling-Degos disease	dark dot disease; reticular pigment anomaly of fle.. [+] dark dot disease; reticular pigment anomaly of flexures; [-]	A pigmentation disease characterized by a reticula..[+] A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. [-]
Down syndrome	Complete trisomy 21 syndrome (disorder); Down's sy.. [+] Complete trisomy 21 syndrome (disorder); Down's syndrome; G Trisomy; trisomy 21 syndrome; Downs syndrome; Down's syndrome - trisomy 21; Complete trisomy 21 syndrome; [-]	A chromosomal disease that is characterized by fla..[+] A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. [-]	6 articles
Doyne honeycomb retinal dystrophy	DHRD; Doyne honeycomb degeneration of retina;	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. [-]
Dravet syndrome	DEE6; developmental and epileptic encephalopathy 6.. [+] DEE6; developmental and epileptic encephalopathy 6; early infantile epileptic encephalopathy 6; severe myoclonic epilepsy of infancy; DEE6A; developmental and epileptic encephalopathy 6A; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. [-]
Dressler's syndrome	Dressler syndrome; Postmyocardial infarction syndr.. [+] Dressler syndrome; Postmyocardial infarction syndrome (disorder); Postmyocardial infarction syndrome; [-]	A pericarditis characterized by inflammation, occu..[+] A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. [-]
Duane retraction syndrome	Duane's syndrome; Stilling-Turk-Duane syndrome;	n_a
Duane-radial ray syndrome	acrorenocular syndrome; DR syndrome; Okihiro syndr.. [+] acrorenocular syndrome; DR syndrome; Okihiro syndrome; Duane anomaly with radial ray abnormalities and deafness; [-]	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. [-]
Dubin-Johnson syndrome	Dubin Johnson syndrome; chronic idiopathic jaundic.. [+] Dubin Johnson syndrome; chronic idiopathic jaundice; [-]	A bilirubin metabolic disorder that involves eleva..[+] A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. [-]
Dubowitz syndrome	Dubowitz's syndrome (disorder); Dubowitz's syndrom.. [+] Dubowitz's syndrome (disorder); Dubowitz's syndrome; [-]	A syndrome that is characterized by microcephaly, ..[+] A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. [-]
Duchenne muscular dystrophy	Muscular dystrophy, Duchenne;	A muscular dystrophy that has_material_basis_in X-..[+] A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. [-]	1 articles
Dyggve-Melchior-Clausen disease	DMC disease; pseudo-Morquio disease type I;	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. [-]
EAST syndrome	epilepsy, ataxia, sensorineural deafness and tubul.. [+] epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; [-]	A syndrome characterized by seizures, sensorineura..[+] A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]	4 articles
EEC syndrome	ectrodactyly, ectodermal dysplasia, and cleft lip-.. [+] ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; Walker-Clodius syndrome; Rudiger syndrome 1; ectrodactyly-ectodermal dysplasia-clefting syndrome; [-]	A syndrome characterized by ectrodactyly, ectoderm..[+] A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
EWSR1-negative small round cell tumor	EWSR1-Negative Small Blue Round Cell Tumor;	A small cell sarcoma that is characterized by the ..[+] A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. [-]
EZB diffuse large B-cell lymphoma	EZB DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. [-]
EZB-MYC+ diffuse large B-cell lymphoma	EZB-MYC+ DLBCL;	An EZB diffuse large B-cell lymphoma that expresse..[+] An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. [-]
EZB-MYC- diffuse large B-cell lymphoma	EZB-MYC- DLBCL;	An EZB diffuse large B-cell lymphoma that does not..[+] An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. [-]
Eastern equine encephalitis	EEE; Neuroinvasive Eastern equine encephalitis vir.. [+] EEE; Neuroinvasive Eastern equine encephalitis virus infection; [-]	A viral infectious disease that results in inflamm..[+] A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. [-]	1 articles
Ebola hemorrhagic fever	Ebola virus disease;	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. [-]
Ebstein anomaly	Ebstein's anomaly; Ebstein's anomaly (disorder) [A.. [+] Ebstein's anomaly; Ebstein's anomaly (disorder) [Ambiguous]; Ebstein's anomaly of common atrioventricular valve (disorder); Ebstein's anomaly of right atrioventricular valve (disorder); Ebstein's anomaly of tricuspid valve (disorder); Ebstein's anomaly of common atrioventricular valve; Ebstein's anomaly of right atrioventricular valve; Ebstein's anomaly of tricuspid valve; [-]	A tricuspid valve disease that is a congenital hea..[+] A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. [-]
Edwards syndrome	Complete trisomy 18 syndrome (disorder); E3 Trisom.. [+] Complete trisomy 18 syndrome (disorder); E3 Trisomy; Complete trisomy 18 syndrome; trisomy 18; [-]	A chromosomal duplciation syndrome that is charact..[+] A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. [-]
Ehlers-Danlos syndrome	Cutis hyperelastica; elastic skin;	A collagen disease that is characterized by extrem..[+] A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. [-]	2 articles	24 matches
Ehlers-Danlos syndrome arthrochalasia type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. [-]
Ehlers-Danlos syndrome arthrochalasia type 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. [-]
Ehlers-Danlos syndrome cardiac valvular type		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. [-]
Ehlers-Danlos syndrome classic type 1	Ehlers-Danlos syndrome, type 1 (disorder); type I .. [+] Ehlers-Danlos syndrome, type 1 (disorder); type I Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 1; [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. [-]
Ehlers-Danlos syndrome classic type 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. [-]
Ehlers-Danlos syndrome classic-like 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. [-]
Ehlers-Danlos syndrome classic-like 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. [-]
Ehlers-Danlos syndrome dermatosparaxis type		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. [-]

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