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Disease	Synonyms	Description
Dowling-Degos disease	dark dot disease; reticular pigment anomaly of flexures;	A pigmentation disease characterized by a reticulate pattern..[+] 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 syndrome; G .. [+] 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 flat-looking ..[+] 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. [-]
Doyne honeycomb retinal dystrophy	DHRD; Doyne honeycomb degeneration of retina;	A retinal drusen characterized by yellow-white deposits (dru..[+] 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	SMEI; severe myoclonic epilepsy in infancy;	An epilepsy that is characterized by frequent febrile seizur..[+] An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. [-]
Dressler's syndrome	Dressler syndrome; Postmyocardial infarction syndrome (disor.. [+] Dressler syndrome; Postmyocardial infarction syndrome (disorder); Postmyocardial infarction syndrome; [-]	A pericarditis characterized by inflammation, occurring afte..[+] 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 syndrome; Duane.. [+] acrorenocular syndrome; DR syndrome; Okihiro syndrome; Duane anomaly with radial ray abnormalities and deafness; [-]	A syndrome characterized by upper limb anomalies, ocular ano..[+] 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 jaundice;	A bilirubin metabolic disorder that involves elevated levels..[+] 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 syndrome;	A syndrome that is characterized by microcephaly, growth ret..[+] 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-linked mut..[+] 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. [-]
Dyggve-Melchior-Clausen disease	DMC disease; pseudo-Morquio disease type I;	A spondyloepimetaphyseal dysplasia characterized by clawed f..[+] 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 tubulopathy; Se.. [+] epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; [-]	A syndrome characterize by seizures, sensorineural deafness,..[+] A syndrome characterize 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. [-]
EEC syndrome	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syn.. [+] ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; ectrodactyly-ectodermal dysplasia-clefting syndrome; Walker-Clodius syndrome; Rudiger syndrome 1; [-]	A syndrome characterized by ectrodactyly, ectodermal dysplas..[+] A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
Eastern equine encephalitis	EEE; Neuroinvasive Eastern equine encephalitis virus infecti.. [+] EEE; Neuroinvasive Eastern equine encephalitis virus infection; [-]	A viral infectious disease that results in inflammation loca..[+] 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. [-]
Ebola hemorrhagic fever	Ebola virus disease;	A viral infectious disease that is a hemorrhagic fever, has_..[+] 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) [Ambiguous];.. [+] 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); [-]	A tricuspid valve disease that is a congenital heart defect ..[+] 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 Trisomy; Complet.. [+] Complete trisomy 18 syndrome (disorder); E3 Trisomy; Complete trisomy 18 syndrome; trisomy 18; [-]	A chromosomal duplciation syndrome that is characterized by ..[+] 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 extremely flexib..[+] 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. [-]
Ehlers-Danlos syndrome arthrochalasia type 1		An Ehlers-Danlos syndrome that is characterized by hypermobi..[+] 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 on chromosome 17q21. [-]
Ehlers-Danlos syndrome arthrochalasia type 2		An Ehlers-Danlos syndrome that has_material_basis_in heteroz..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. [-]
Ehlers-Danlos syndrome classic type 1	Ehlers-Danlos syndrome, type 1 (disorder); Ehlers-Danlos syn.. [+] Ehlers-Danlos syndrome, type 1 (disorder); Ehlers-Danlos syndrome, type 1; type I Ehlers-Danlos syndrome; [-]	An Ehlers-Danlos syndrome that is characterized by loose-joi..[+] 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-like 1		An Ehlers-Danlos syndrome that is characterized by hyperexte..[+] 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 dermatosparaxis type		An Ehlers-Danlos syndrome that is characterized by severe sk..[+] 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. [-]
Ehlers-Danlos syndrome hypermobility type	Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-Danlos syn.. [+] Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-Danlos syndrome, type 3; type III Ehlers-Danlos syndrome; [-]	An Ehlers-Danlos syndrome that is characterized by joint hyp..[+] An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. [-]
Ehlers-Danlos syndrome kyphoscoliotic type 2		An Ehlers-Danlos syndrome that is characterized by severe mu..[+] An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. [-]
Ehlers-Danlos syndrome musculocontractural type 2		An Ehlers-Danlos syndrome that is characterized by progressi..[+] An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	defective biosynthesis of proteodermatan sulfate; XGPT defic.. [+] defective biosynthesis of proteodermatan sulfate; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; Ehlers-Danlos syndrome progeroid type; [-]	An Ehlers-Danlos syndrome that is characterized by aged appe..[+] An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [-]
Ehlers-Danlos syndrome spondylodysplastic type 3		An Ehlers-Danlos syndrome that has_material_basis_in homozyg..[+] An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. [-]
Ehrlich tumor carcinoma	Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich's tumour;.. [+] Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich's tumour; [-]	n_a
Eiken syndrome	bone modeling defect of hands and feet; Eiken skeletal dyspl.. [+] bone modeling defect of hands and feet; Eiken skeletal dysplasia; [-]	A bone development disease characterized by severely delayed..[+] A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31. [-]
Ellis-Van Creveld syndrome	Chondroectodermal dysplasia; Chondroectodermal dysplasia (di.. [+] Chondroectodermal dysplasia; Chondroectodermal dysplasia (disorder); Ellis-van Creveld syndrome; mesoectodermal dysplasia; [-]	A syndrome characterized by short limbs, short ribs, postaxi..[+] A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2. [-]
Elsahy-Waters syndrome	branchioskeletogenital syndrome;	A syndrome that is characterized by brachycephaly, facial as..[+] A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. [-]
Emery-Dreifuss muscular dystrophy	EDMD;	A muscular dystrophy that chiefly affects muscles used for m..[+] A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. [-]
Epstein-Barr virus hepatitis		A viral hepatitis that results_in inflammation, located_in l..[+] A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. [-]
Erdheim-Chester disease		n_a
Evans' syndrome		n_a
Ewing sarcoma	Ewing's sarcoma/peripheral primitive neuroectodermal tumor; .. [+] Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; localized Ewing's sarcoma; localized Ewing's tumor; localized peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region; Ewing's family localized tumor; localized Ewing sarcoma; peripheral primitive neuroectodermal tumor; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewings sarcoma-primitive neuroectodermal tumor; [-]	A bone sarcoma that has_material_basis in neural crest cells..[+] A bone sarcoma that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. [-]
Ewing sarcoma of bone	bone Ewing's sarcoma; bone localized Ewing sarcoma; bone loc.. [+] bone Ewing's sarcoma; bone localized Ewing sarcoma; bone localized Ewing's sarcoma; localized Skeletal Ewing's sarcoma; Skeletal Ewing's tumor; bone Ewing sarcoma; Ewing's sarcoma of bone; Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor; [-]	A peripheral primitive neuroectodermal tumor that is located..[+] A peripheral primitive neuroectodermal tumor that is located_in bone. [-]
FG syndrome	Keller syndrome; Opitz-Kaveggia syndrome;	A syndrome characterized by retardation, hyperactivity, hypo..[+] A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [-]
Fabry disease	Alpha-galactosidase A deficiency; Angiokeratoma Corporis Dif.. [+] Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; alpha galactosidase deficiency; Fabry's disease; deficiency of melibiase; [-]	A sphingolipidosis that is characterized by the buildup of g..[+] A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. [-]
Fanconi anemia	Fanconi panmyelopathy; Fanconi's anemia; Fanconi pancytopeni.. [+] Fanconi panmyelopathy; Fanconi's anemia; Fanconi pancytopenia; Fanconi anaemia; Fanconi's anaemia; [-]	A congenital hypoplastic anemia characterized by progressive..[+] A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. [-]
Fanconi anemia complementation group A	FANCA;	A Fanconi anemia that has_material_basis_in homozygous or co..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. [-]
Fanconi anemia complementation group B	FA2; FACB; Fanconi pancytopenia type 2; FANCB;	A Fanconi anemia that has_material_basis_in mutation in the ..[+] A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. [-]
Fanconi anemia complementation group C	FACC; FANCC; Fanconi pancytopenia type 3; FA3;	A Fanconi anemia that has_material_basis_in homozygous or co..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. [-]
Fanconi anemia complementation group D1	FAD1; FANCD1;	A Fanconi anemia that has_material_basis_in homozygous or co..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. [-]
Fanconi anemia complementation group D2	FA4; FANCD2; Fanconi pancytopenia type 4; FAD2;	A Fanconi anemia that has_material_basis_in compound heteroz..[+] A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. [-]
Fanconi anemia complementation group E	FACE; FANCE;	A Fanconi anemia that has_material_basis_in homozygous mutat..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. [-]
Fanconi anemia complementation group F	FANCF;	A Fanconi anemia that has_material_basis_in homozygous or co..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. [-]
Fanconi anemia complementation group G	FANCG;	A Fanconi anemia that has_material_basis_in homozygous or co..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. [-]
Fanconi anemia complementation group I	FANCI;	A Fanconi anemia that has_material_basis_in homozygous or co..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. [-]

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