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Disease	Synonyms	Description
Coffin-Siris syndrome 3	autosomal dominant mental retardation 15; CSS3; MR.. [+] autosomal dominant mental retardation 15; CSS3; MRD15; [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. [-]
Coffin-Siris syndrome 4	autosomal dominant mental retardation 16; CSS4; MR.. [+] autosomal dominant mental retardation 16; CSS4; MRD16; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2. [-]
Coffin-Siris syndrome 8	CSS8;	A Coffin-Siris syndrome characterized by variable ..[+] A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. [-]
Cogan syndrome	Cogan's syndrome; diffuse interstitual keratitis;	An eye disease characterized by nonsyphilitic inte..[+] An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [-]
Cogan-Reese syndrome		An eye disease characterized by variable iris atro..[+] An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. [-]
Cole-Carpenter syndrome		An osteogenesis imperfecta characterized by cranio..[+] An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. [-]
Colorado tick fever	Tick fever, American mountain;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. [-]
Compton-North congenital myopathy	congenital myopathy 12;	A congenital myopathy that has_material_basis_in h..[+] A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. [-]
Conn's syndrome	Conn syndrome; primary aldosteronism; primary hype.. [+] Conn syndrome; primary aldosteronism; primary hyperaldosteronism; [-]	An adrenal admenoma characterized by over producti..[+] An adrenal admenoma characterized by over production of aldosterone. [-]
Cor pulmonale	cardiopulmonary disease; pulmonary heart disease;	A congestive heart failure that involves a failure..[+] A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. [-]
Cornelia de Lange syndrome	Brachmann de Lange syndrome; De Lange syndrome;	A genetic disease that is characterized by slow gr..[+] A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. [-]
Cornelia de Lange syndrome 1		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. [-]
Cornelia de Lange syndrome 3	CDLS3; Cornelia De Lange syndrome 3 with or withou.. [+] CDLS3; Cornelia De Lange syndrome 3 with or without midline brain defects; [-]	A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. [-]
Costello syndrome	Faciocutaneoskeletal Syndrome; FCS SYNDROME;	A syndrome characterized by craniofacial dysmorpho..[+] A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]
Cowden disease	dysplastic Gangliocytoma of Cerebellum; Lhermitte-.. [+] dysplastic Gangliocytoma of Cerebellum; Lhermitte-Duclos disease (disorder); multiple hamartoma syndrome; [-]	An autosomal dominant disease characterized by mul..[+] An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. [-]
Cowden syndrome 5		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. [-]
Cowden syndrome 7		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. [-]
Cowper gland carcinoma		A male reproductive organ cancer that has_material..[+] A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. [-]
Creutzfeldt-Jakob disease	CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob.. [+] CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Creutzfeldt-Jacob disease; Jakob-Creutzfeldt disease; Subacute spongiform encephalopathy; Transmissible virus dementia (disorder); [-]	n_a
Cri-Du-Chat syndrome	5p deletion syndrome; 5p partial monosomy syndrome.. [+] 5p deletion syndrome; 5p partial monosomy syndrome (disorder); chromosome 5 short arm deletion syndrome; chromosome 5p deletion syndrome; Cri-du-chat syndrome; [-]	n_a
Crigler-Najjar syndrome	Bilirubin UDP glucuronyl transferase deficiency; C.. [+] Bilirubin UDP glucuronyl transferase deficiency; Crigler Najjar syndrome; Crigler-Najjar syndrome, type I (disorder); Crigler-Najjar syndrome, type I; [-]	A bilirubin metabolic disorder that involves a bui..[+] A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). [-]
Crimean-Congo hemorrhagic fever	CHF Congo virus; Congo-Crimean Hemorrhagic Fever; .. [+] CHF Congo virus; Congo-Crimean Hemorrhagic Fever; Crimean hemorrhagic fever [CHF Congo virus]; Crimean hemorrhagic fever; [-]	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. [-]
Crohn's colitis		An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. [-]
Crohn's disease	Crohn disease; Crohn's disease of colon (disorder).. [+] Crohn disease; Crohn's disease of colon (disorder); Crohn's disease of large bowel; Granulomatous Colitis; Pediatric Crohn's disease; Crohn's disease of colon; [-]	An intestinal disease that involves inflammation l..[+] An intestinal disease that involves inflammation located_in intestine. [-]
Cronkhite-Canada syndrome	gastric Cronkhite Canada polyposis;	n_a
Crouzon syndrome	Craniofacial Dysostosis; Crouzon's disease;	A craniosynostosis that involves premature fusion ..[+] A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. [-]
Crouzon syndrome-acanthosis nigricans syndrome	CAN; Crouzon-dermoskeletal syndrome; Crouzonodermo.. [+] CAN; Crouzon-dermoskeletal syndrome; Crouzonodermoskeletal syndrome; [-]	A syndrome characterized by Crouzon-like features,..[+] A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. [-]
Cryptococcal meningitis		A fungal meningitis that has_material_basis in Cry..[+] A fungal meningitis that has_material_basis in Crypococcus fungal infection. [-]
Cytomegalovirus retinitis	CMV retinitis;	A retinitis that has_material_basis_in Cytomegalov..[+] A retinitis that has_material_basis_in Cytomegalovirus. [-]
D-2-hydroxyglutaric aciduria		An 2-hydroxyglutaric aciduria that involves develo..[+] An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. [-]
D-2-hydroxyglutaric aciduria 2	D2HGA2;	A D-2-hydroxyglutaric aciduria that has_material_b..[+] A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. [-]
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. [-]
DIC in newborn	Disseminated intravascular coagulation in newborn;.. [+] Disseminated intravascular coagulation in newborn; Disseminated intravascular coagulation in newborn (disorder); [-]	n_a
DNA ligase IV deficiency	LIG4 Syndrome;	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. [-]
DOORS syndrome	autosomal recessive deafness-onychodystrophy syndr.. [+] autosomal recessive deafness-onychodystrophy syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; deafness-onychoosteodystrophy-intellectual disability syndrome; DOOR syndrome; DOORS; [-]	A syndrome characterized by sensorineural deafness..[+] A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. [-]
Dandy-Walker syndrome	Atresia of foramina of Magendie and Luschka;	A cerebellar disease that is characterized by hypo..[+] A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. [-]
Danon disease	ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II;	A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [-]
De Quervain disease	Radial styloid tenosynovitis; Tenosynovitis, de Qu.. [+] Radial styloid tenosynovitis; Tenosynovitis, de Quervain's; [-]	n_a
Dent disease	Dent disease 1; Dent disease 2; Dent's disease;	A renal tubular transport disease that is characte..[+] A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. [-]
Denys-Drash syndrome		An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). [-]
Desbuquois dysplasia	Desbuquois syndrome; micromelic dwarfism with vert.. [+] Desbuquois syndrome; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; [-]	An osteochondrodysplasia characterized by short st..[+] An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [-]
DiGeorge syndrome	DiGeorge sequence (disorder); DiGeorge's syndrome;.. [+] DiGeorge sequence (disorder); DiGeorge's syndrome; Pharyngeal pouch syndrome; [-]	A T cell deficiency disease that is the result of ..[+] A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. [-]
Diamond-Blackfan anemia	Blackfan - Diamond syndrome; chronic constitutiona.. [+] Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia; [-]	A congenital hypoplastic anemia that is characteri..[+] A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. [-]
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 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 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 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	DBS/FOAR syndrome; diaphragmatic hernia, exomphalo.. [+] DBS/FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; faciooculoacousticorenal syndrome; FOAR syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; [-]	An autosomal recessive disease characterized by fa..[+] An autosomal recessive disease 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 LRP2 gene on chromosome 2q31. [-]

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