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Disease	Synonyms	Description	Articles
X-linked spondyloepimetaphyseal dysplasia	SEMD X-linked; SEMDX;	A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. [-]
X-linked thrombocytopenia with beta-thalassemia	beta-thalassemia-X-linked thrombocytopenia syndrom.. [+] beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT; [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
X-linked thrombophilia due to factor IX defect	THPH8;	A thrombophilia characterized by normal levels of ..[+] A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. [-]
X-linked warfarin sensitivity		An inherited metabolic disorder that is characteri..[+] An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. [-]
XFE progeroid syndrome	XFEPS; XPF-ERCC1 progeroid syndrome;	A progeroid syndrome that is characterized by aged..[+] A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. [-]	1 articles
Xia-Gibbs Syndrome	MRD25; autosomal dominant mental retardation 25;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. [-]
Y-linked deafness	DFNY;	A nonsyndromic deafness characterized by a Y-lnked..[+] A nonsyndromic deafness characterized by a Y-lnked inheritance mode. [-]
Y-linked deafness 1	DFNY1;	A Y-linked deafness characterized by male-limited ..[+] A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. [-]
Y-linked deafness 2	DFNY2;	A Y-linked deafness characterized by male-limited ..[+] A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. [-]
Y-linked monogenic disease		A monogenic disease that has_material_basis_in mut..[+] A monogenic disease that has_material_basis_in mutations on the Y chromosome. [-]
Y-linked spermatogenic failure 1	SPGFY1; type I Sertoli cell-only syndrome; Y-linke.. [+] SPGFY1; type I Sertoli cell-only syndrome; Y-linked Sertoli cell-only syndrome; [-]	A Sertoli cell-only syndrome that has_material_bas..[+] A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. [-]
Y-linked spermatogenic failure 2	nonobstructive Y-linked spermatogenic failure; SPG.. [+] nonobstructive Y-linked spermatogenic failure; SPGFY2; [-]	A spermatogenic failure that is characterized by n..[+] A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. [-]
Yoon-Bellen neurodevelopmental syndrome	YOBELN;	A syndrome characterized by onset in the first dec..[+] A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. [-]
Yunis-Varon syndrome	cleidocranial dysplasia-micrognathia-absent thumbs.. [+] cleidocranial dysplasia-micrognathia-absent thumbs syndrome; cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; [-]	A syndrome characterized by skeletal defects, incl..[+] A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. [-]
Zaki syndrome		A syndrome characterized by developmental delay, p..[+] A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. [-]
Zellweger syndrome	congenital iron overload; peroxisome biogenesis di.. [+] congenital iron overload; peroxisome biogenesis disorder; cerebrohepatorenal syndrome ; [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. [-]
Zika fever	Zika virus disease;	A viral infectious disease that has_material_basis..[+] A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. [-]	1 articles
Zika virus congenital syndrome	ZIKV congenital infection;	A syndrome that is characterized in neonates by mi..[+] A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. [-]
Zollinger-Ellison syndrome		A syndrome that is characterized by the developmen..[+] A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. [-]
abdominal aortic aneurysm	AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1;	An aortic aneurysm that is located_in the abdomina..[+] An aortic aneurysm that is located_in the abdominal aorta. [-]
abdominal obesity-metabolic syndrome		A syndrome that is characterized by abdominal obes..[+] A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. [-]
abdominal obesity-metabolic syndrome 1	dysmetabolic syndrome X; abdominal obesity-metabol.. [+] dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1; metabolic syndrome X; [-]	An abdominal obesity-metabolic syndrome characteri..[+] An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. [-]
abdominal obesity-metabolic syndrome 3		An abdominal obesity-metabolic syndrome that has_m..[+] An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. [-]
abdominal obesity-metabolic syndrome 4		An abdominal obesity-metabolic syndrome that is ch..[+] An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. [-]
abdominal tuberculosis		An extrapulmonary tuberculosis that is located_in ..[+] An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. [-]
abducens nerve neoplasm	neoplasm of abducens nerve (disorder); VIth Crania.. [+] neoplasm of abducens nerve (disorder); VIth Cranial nerve tumors; neoplasm of abducens nerve; [-]	n_a
abducens nerve palsy	Abducens nerve disorder; Abducens nerve weakness; .. [+] Abducens nerve disorder; Abducens nerve weakness; disorder of abducent nerve; Lateral rectus muscle denervation paresis; Lateral rectus muscle innervation disorder; Sixth cranial nerve disorder, NOS; Sixth nerve palsy (disorder); VIth nerve disorder; VIth nerve Paralysis; Sixth cranial nerve disorder; Sixth or abducens nerve palsy; Sixth nerve palsy; abducens nerve disease; abducens palsy; [-]	A cranial nerve palsy characterized by lateral rec..[+] A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. [-]
abetalipoproteinemia	familial hypobetalipoproteinemia; microsomal trigl.. [+] familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease; [-]	A hypolipoproteinemia that is characterized by an ..[+] A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. [-]	1 articles
ablepharon macrostomia syndrome	poikiloderma with neutropenia, Clericuzio type;	A syndrome characterized by ablepharon, macrostomi..[+] A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
abnormal pupillary function		n_a
abnormal retinal correspondence		n_a
abnormal threshold of rods	abnormal dark adaptation curve;	n_a
abnormality of glucagon secretion	Glucagon secretion abnormality;	n_a
absolute glaucoma	blind hypertensive eye;	A glaucoma that is characterized by a total loss o..[+] A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. [-]
acalculous cholecystitis	acute cholecystitis without calculus (disorder); c.. [+] acute cholecystitis without calculus (disorder); cholecystitis without calculus (disorder); acute cholecystitis without calculus; cholecystitis without calculus; acute acalculous cholecystitis; [-]	A cholecystitis characterized by the absence of ga..[+] A cholecystitis characterized by the absence of gallstones. [-]
acanthocephaliasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. [-]
acantholytic acanthoma	Acantholytic acanthoma;	n_a
acantholytic squamous cell skin carcinoma	acantholytic squamous cell carcinoma of skin ; Aca.. [+] acantholytic squamous cell carcinoma of skin ; Acantholytic squamous cell carcinoma of skin (disorder); Acantholytic squamous cell skin carcinoma; Acantholytic squamous cell carcinoma of skin; [-]	n_a
acantholytic variant squamous cell breast carcinoma		n_a
acanthoma		n_a
acanthosis nigricans	Acanthosis nigricans (disorder); Keratosis nigrica.. [+] Acanthosis nigricans (disorder); Keratosis nigricans; keratosis nigricans; Acanthosis nigricans; AN - Acanthosis nigricans; [-]	A pigmentation disease characterized by velvety, d..[+] A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. [-]	1 articles
acatalasia	deficiency of catalase (disorder); deficiency of c.. [+] deficiency of catalase (disorder); deficiency of catalase; acatalasemia; [-]	A peroxisomal disease characterized by loss of cat..[+] A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. [-]
accessory nerve disease	disorder of 11th nerve; disorder of accessory [11t.. [+] disorder of 11th nerve; disorder of accessory [11th] nerve; Eleventh nerve disorder; disorder of accessory nerve (disorder); disorder of accessory nerve; [-]	A glossopharyngeal nerve disease that is character..[+] A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). [-]
accommodative esotropia		n_a
accommodative spasm	Spasm of accommodation;	n_a
aceruloplasminemia		An iron metabolism disease that has_material_basis..[+] An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. [-]
achalasia	achalasia of cardia; achalasia of esophagus; esoph.. [+] achalasia of cardia; achalasia of esophagus; esophageal achalasia; Lack of reflex relaxation of lower oesophageal sphincter; hypertensive lower esophageal sphincter; cardiospasm; [-]	An esophageal disease that is characterized by an ..[+] An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. [-]
achalasia microcephaly syndrome	Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYN.. [+] Achalasia microcephaly; ACHALASIA-MICROCEPHALY SYNDROME; [-]	A syndrome that is characterized by microcephaly, ..[+] A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). [-]
acheiropody	Acheiropodia; Horn-Kolb Syndrome;	An osteochondrodysplasia characterized by a lack o..[+] An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. [-]
achondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. [-]

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