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Disease	Synonyms	Description	Articles
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. [-]
Cornelia de Lange syndrome 4	CDLS4; Cornelia De Lange syndrome 4 with or withou.. [+] CDLS4; Cornelia De Lange syndrome 4 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 RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. [-]
Cornelia de Lange syndrome 5		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. [-]
Cornelia de Lange syndrome 6		A Cornelia de Lange syndrome characterized by malf..[+] A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. [-]
Coronavirus infectious disease		A viral infectious disease that has_material_basis..[+] A viral infectious disease that has_material_basis_in Coronavirus. [-]	2 articles
Costello syndrome	Faciocutaneoskeletal Syndrome; FCS SYNDROME;	A RASopathy characterized by craniofacial dysmorph..[+] A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]	1 articles
Cowden syndrome	Lhermitte-Duclos disease (disorder); multiple hama.. [+] Lhermitte-Duclos disease (disorder); multiple hamartoma syndrome; Cowden disease; dysplastic Gangliocytoma of Cerebellum; Lhermitte-Duclos disease; [-]	A PTEN hamartoma tumor syndrome that is characteri..[+] A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. [-]
Cowden syndrome 4		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. [-]
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 6		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. [-]
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; Jakob-Creutzfeldt disease; Transmissible virus dementia (disorder); Subacute spongiform encephalopathy; CJD; Transmissible virus dementia; Creutzfeldt-Jacob disease; [-]	n_a
Cri-Du-Chat syndrome	5p deletion syndrome; Cri-du-chat syndrome; 5p par.. [+] 5p deletion syndrome; Cri-du-chat syndrome; 5p partial monosomy syndrome (disorder); chromosome 5p deletion syndrome; 5p partial monosomy syndrome; chromosome 5 short arm deletion syndrome; [-]	A syndrome that has_material_basis_in deletion of ..[+] A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. [-]
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's disease of colon (disorder); Crohn's disea.. [+] Crohn's disease of colon (disorder); Crohn's disease of large bowel; Granulomatous Colitis; Pediatric Crohn's disease; Crohn's disease of colon; Crohn disease; [-]	An intestinal disease that involves inflammation l..[+] An intestinal disease that involves inflammation located_in intestine. [-]	1 articles
Cronkhite-Canada syndrome	gastric Cronkhite Canada polyposis; polyposis, ski.. [+] gastric Cronkhite Canada polyposis; polyposis, skin pigmentation, alopecia, and fingernail changes; [-]	A stomach disease characterized by gastrointestina..[+] A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. [-]
Crouzon syndrome	Crouzon's disease; Craniofacial Dysostosis;	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; Crouzonodermoskeletal syndrome; Crouzon-dermo.. [+] CAN; Crouzonodermoskeletal syndrome; Crouzon-dermoskeletal 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. [-]
Culler-Jones syndrome		A syndrome that is characterized by hypopituitaris..[+] A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. [-]
Currarino syndrome	Currarino triad;	A syndrome characterized by anorectal malformation..[+] A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. [-]
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 1	D2HGA1;	A D-2-hydroxyglutaric aciduria that has_material_b..[+] A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. [-]
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 dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. [-]
D-glyceric aciduria	D-glycerate kinase deficiency; D-glyceric acidemia.. [+] D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; non ketotic hyperglycinemia syndrome; deficiency of glycerate kinase; [-]	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. [-]
D-mannitol allergy	mannitol allergy;	A drug allergy that has_allergic_trigger D-mannito..[+] A drug allergy that has_allergic_trigger D-mannitol. [-]
DIC in newborn	Disseminated intravascular coagulation in newborn;.. [+] Disseminated intravascular coagulation in newborn; Disseminated intravascular coagulation in newborn (disorder); [-]	n_a
DICER1 syndrome	Pleuro-pulmonary blastoma familial tumor susceptib.. [+] Pleuro-pulmonary blastoma familial tumor susceptibility; Pleuro-pulmonary blastoma familial tumor susceptibility syndrome; Pleuropulmonary blastoma familial tumor susceptibility syndrome; PPB familial tumor susceptibility syndrome; [-]	A syndrome that is characterized by an increased r..[+] A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. [-]
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
De Sanctis-Cacchione syndrome	xeroderma pigmentosum with neurologic manifestatio.. [+] xeroderma pigmentosum with neurologic manifestation; [-]	A xeroderma pigmentosum characterized by xeroderma..[+] A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. [-]
DeSanto-Shinawi syndrome	Chromosome 10p12-p11 deletion syndrome; Facial dys.. [+] Chromosome 10p12-p11 deletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome; [-]	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. [-]
Dent disease	Dent disease 1; Dent disease 2; Dent's disease; X-.. [+] Dent disease 1; Dent disease 2; Dent's disease; X-linked hypercalciuric nephrocalcinosis; [-]	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. [-]	6 articles
Dent disease 1		A Dent disease that is characterized by manifestat..[+] A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. [-]
Dent disease 2		A Dent disease that is characterized by low molecu..[+] A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. [-]
Denys-Drash syndrome		A syndrome that is characterized by the associatio..[+] A syndrome 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	micromelic dwarfism with vertebral and metaphyseal.. [+] micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; Desbuquois syndrome; [-]	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 sequence; D.. [+] DiGeorge sequence (disorder); DiGeorge sequence; DiGeorge's syndrome; 22q11.2 deletion syndrome; Pharyngeal pouch syndrome; [-]	A syndrome that has_material_basis_in a large dele..[+] A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. [-]	8 articles
Diamond-Blackfan anemia	Blackfan - Diamond syndrome; chronic constitutiona.. [+] Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia; [-]	A pure red-cell aplasia that is characterized by a..[+] A pure red-cell aplasia 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. [-]	4 articles
Diamond-Blackfan anemia 1	DBA1; RPS19-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 RPS19 gene on chromosome 19q13.2. [-]
Diamond-Blackfan anemia 10	DBA10; RPS26-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 RPS26 gene on chromosome 12q13.2. [-]
Diamond-Blackfan anemia 11	RPL26-related Diamond-Blackfan anemia; DBA11;	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. [-]

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