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Disease	Synonyms	Description
Donohue syndrome	Leprechaunism;	n_a
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; Down's syndrome - trisomy 21; Downs syndrome; G Trisomy; trisomy 21 syndrome; 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. [-]
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. [-]
Dressler's syndrome	Dressler syndrome; Postmyocardial infarction syndr.. [+] Dressler syndrome; Postmyocardial infarction syndrome; Postmyocardial infarction syndrome (disorder); [-]	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; Duane anomaly.. [+] acrorenocular syndrome; DR syndrome; Duane anomaly with radial ray abnormalities and deafness; Okihiro syndrome; [-]	An autosomal dominant disease characterized by upp..[+] An autosomal dominant disease 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	chronic idiopathic jaundice; Dubin Johnson syndrom.. [+] chronic idiopathic jaundice; Dubin Johnson syndrome; [-]	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);	A syndrome that is a rare genetic disorder charact..[+] A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, 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 disease that has material basis in 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 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; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome; [-]	A syndrome characterize by seizures, sensorineural..[+] A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]
EEC syndrome	ectrodactyly, ectodermal dysplasia, and cleft lip-.. [+] ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; ectrodactyly-ectodermal dysplasia-clefting syndrome; Rudiger syndrome 1; Walker-Clodius syndrome; [-]	An autosomal dominant disease characterized by ect..[+] An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
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. [-]
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. [-]
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); [-]	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; trisomy 18; [-]	n_a
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. [-]
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 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 musculocontractural type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	defective biosynthesis of proteodermatan sulfate; .. [+] defective biosynthesis of proteodermatan sulfate; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; Ehlers-Danlos syndrome progeroid type; [-]	An Ehlers-Danlos syndrome that is characterized by..[+] 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_..[+] 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;	n_a
Ellis-Van Creveld syndrome	Chondroectodermal dysplasia; Chondroectodermal dys.. [+] Chondroectodermal dysplasia; Chondroectodermal dysplasia (disorder); Ellis-van Creveld syndrome; [-]	n_a
Emery-Dreifuss muscular dystrophy	EDMD;	A muscular dystrophy that chiefly affects muscles ..[+] 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, lo..[+] 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 family localized tumor; Ewing's sarcoma/pe.. [+] Ewing's family localized tumor; Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; Ewings sarcoma-primitive neuroectodermal tumor; localized Ewing sarcoma; localized Ewing's sarcoma; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; localized Ewing's tumor; localized peripheral primitive neuroectodermal tumor; peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region; [-]	A bone cancer that has_material_basis in neural cr..[+] A bone cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. [-]
FG syndrome	Keller syndrome; Opitz-Kaveggia syndrome;	An X-linked disease characterized by retardation, ..[+] An X-linked disease 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. [-]
FTDALS2	frontotemporal dementia and/or amyotrophic lateral.. [+] frontotemporal dementia and/or amyotrophic lateral sclerosis 2; [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [-]
FTDALS4	frontotemporal dementia and/or amyotrophic lateral.. [+] frontotemporal dementia and/or amyotrophic lateral sclerosis 4; [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. [-]
Fabry disease	alpha galactosidase deficiency; Alpha-galactosidas.. [+] alpha galactosidase deficiency; Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; deficiency of melibiase; Fabry's disease; [-]	n_a
Fanconi anemia	Fanconi pancytopenia; Fanconi panmyelopathy; Fanco.. [+] Fanconi pancytopenia; Fanconi panmyelopathy; Fanconi's anemia; [-]	A congenital hypoplastic anemia characterized by p..[+] 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 homozy..[+] 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; FANCB; Fanconi pancytopenia type 2;	A Fanconi anemia that has_material_basis_in mutati..[+] A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. [-]
Fanconi anemia complementation group C	FA3; FACC; FANCC; Fanconi pancytopenia type 3;	A Fanconi anemia that has_material_basis_in homozy..[+] 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 homozy..[+] 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; FAD2; FANCD2; Fanconi pancytopenia type 4;	A Fanconi anemia that has_material_basis_in compou..[+] 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 homozy..[+] 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 homozy..[+] 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 homozy..[+] 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 homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. [-]
Fanconi anemia complementation group J	FANCJ;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. [-]
Fanconi anemia complementation group L	FANCL;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. [-]
Fanconi anemia complementation group N	FANCN;	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. [-]
Fanconi anemia complementation group O	FANCO;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. [-]
Fanconi anemia complementation group P	FANCP;	A Fanconi anemia characterized by increased chromo..[+] A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. [-]

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