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Disease	Synonyms	Description
arthrogryposis, renal dysfunction, and cholestasis 1	ARCS1	An arthrogryposis, renal dysfunction, and cholesta..[+] An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. [-]
arthrogryposis, renal dysfunction, and cholestasis 2	ARCS2	An arthrogryposis, renal dysfunction, and cholesta..[+] An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. [-]
adermatoglyphia	Absence of fingerprints; ADERM; ADG; Congenital ab.. [+] ADG; ADERM; Absence of fingerprints; Congenital absence of fingerprints; Immigration delay disease; Isolated congenital adermatoglyphia [-]	A skin disease characterized by lack of epidermal ..[+] A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. [-]
Alzheimer's disease 9	Alzheimer's disease 9, late onset; AD9	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. [-]
apolipoprotein C-III deficiency	HALP2; hyperalphalipoproteinemia 2	A cholesterol-ester transfer protein deficiency ch..[+] A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. [-]
autosomal dominant keratitis	hereditary keratitis	A keratitis characterized by corneal opacification..[+] A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2	autosomal recessive progressive external ophthalmo.. [+] autosomal recessive progressive external ophthalmoplegia 2; adult-onset CPEO with mitochondrial myopathy; adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; PEOB2 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4	autosomal recessive progressive external ophthalmo.. [+] autosomal recessive progressive external ophthalmoplegia 4; adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency; PEOB4 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 2; PEOA2 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 5; PEOA5 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 6; DNA2-related mitochondrial DNA deletion syndrome; mitochondrial DNA deletion syndrome with limb-girdle weakness; mitochondrial DNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness; mtDNA deletion syndrome with progressive myopathy; PEOA6 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 3; PEOA3 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. [-]
autosomal dominant progressive external ophthalmoplegia 1	PEOA1	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal recessive progressive external ophthalmoplegia 1	PEOB1	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3	autosomal recessive progressive external ophthalmo.. [+] autosomal recessive progressive external ophthalmoplegia 3; PEOB3 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	autosomal recessive progressive external ophthalmo.. [+] autosomal recessive progressive external ophthalmoplegia 5; PEOB5 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 4; PEOA4 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. [-]
aplasia of lacrimal and salivary glands	ALSG; congenital absence of lacrimal puncta and sa.. [+] ALSG; congenital absence of lacrimal puncta and salivary glands [-]	A syndrome characterized by irritable eyes, epipho..[+] A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. [-]
Alkuraya-Kucinskas syndrome	ALKKUCS	A syndrome characterized by arthrogryposis, cerebr..[+] A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. [-]
autosomal dominant vitreoretinochoroidopathy	ADVIRC; vitreoretinochoroidopathy dominant; vitreo.. [+] ADVIRC; vitreoretinochoroidopathy dominant; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos; VRCP autosomal dominant; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract [-]	A hereditary retinal dystrophy characterized by ab..[+] A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. [-]
autosomal dominant woolly hair	ADWH	A familial woolly hair syndrome that has_material_..[+] A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. [-]
autosomal recessive woolly hair 3	ARWH3	A familial woolly hair syndrome that has_material_..[+] A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. [-]
asthma, nasal polyps, and aspirin intolerance	ASA triad	A respiratory system disease characterized by asth..[+] A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. [-]
autosomal recessive Whistling face syndrome		A Freeman-Sheldon syndrome that has autosomal rece..[+] A Freeman-Sheldon syndrome that has autosomal recessive inheritance. [-]
autosomal recessive spinocerebellar ataxia 4	autosomal recessive cerebellar ataxia-saccadic int.. [+] autosomal recessive cerebellar ataxia-saccadic intrusion syndrome; SCAR4; SCASI; spinocerebellar ataxia 24; SCA24; spinocerebellar ataxia with saccadic intrusions [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. [-]
autosomal recessive spinocerebellar ataxia 3	autosomal recessive spinocerebellar ataxia-blindne.. [+] autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia type 3; SCABD; SCAR3 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. [-]
autosomal recessive spinocerebellar ataxia 23	autosomal recessive cerebellar ataxia-epilepsy-int.. [+] autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. [-]
autosomal recessive spinocerebellar ataxia 22	SCAR22	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. [-]
autosomal recessive spinocerebellar ataxia 24	SCAR24	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. [-]
autosomal recessive spinocerebellar ataxia 27	SCAR27	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. [-]
autosomal recessive spinocerebellar ataxia 6	autosomal recessive spinocerebellar ataxia type 6; .. [+] autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia; SCAR6 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. [-]
autosomal recessive spinocerebellar ataxia 8	Autosomal recessive cerebellar ataxia type 1; auto.. [+] Autosomal recessive cerebellar ataxia type 1; autosomal recessive ataxia, Beauce type; ARCA1; recessive ataxia of Beauce; SCAR8; SYNE1-related autosomal recessive cerebellar ataxia [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. [-]
ACTH-independent macronodular adrenal hyperplasia	AIMAH; adrenocorticotropic hormone-independent mac.. [+] AIMAH; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; ACTH-independent macronodular adrenocortical hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; Primary macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia; MMAD [-]	A primary hyperaldosteronism characterized by mult..[+] A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. [-]
ACTH-independent macronodular adrenal hyperplasia 1	AIMAH1	An ACTH-independent macronodular adrenal hyperplas..[+] An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. [-]
ACTH-independent macronodular adrenal hyperplasia 2	AIMAH2	An ACTH-independent macronodular adrenal hyperplas..[+] An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. [-]
autosomal recessive nonsyndromic deafness 99	autosomal recessive deafness 99; DFNB99	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. [-]
autosomal recessive nonsyndromic deafness 57	autosomal recessive deafness 57; DFNB57	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. [-]
autosomal recessive nonsyndromic deafness 113	autosomal recessive deafness 113; DFNB113	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 112	autosomal recessive deafness 112; DFNB112	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. [-]
autosomal recessive nonsyndromic deafness 100	autosomal recessive deafness 100; DFNB100	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. [-]
autosomal recessive nonsyndromic deafness 109	autosomal recessive deafness 109; DFNB109	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. [-]
autosomal recessive nonsyndromic deafness 111	autosomal recessive deafness 111; DFNB111	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. [-]
autosomal recessive nonsyndromic deafness 94	autosomal recessive deafness 94; DFNB94	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. [-]
autosomal recessive nonsyndromic deafness 114	autosomal recessive deafness 114; DFNB114	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. [-]
autosomal recessive nonsyndromic deafness 115	autosomal recessive deafness 115; DFNB115	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. [-]
autosomal recessive nonsyndromic deafness 110	autosomal recessive deafness 110; DFNB110	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. [-]
Ayme-Gripp syndrome	AYGRP; cataracts, congenital, with sensorineural d.. [+] AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. [-]
ankyrin-B-related cardiac arrhythmia	ankyrin-B syndrome	A heart disease characterized by a broad spectrum ..[+] A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. [-]
amelogenesis imperfecta type 3	AI3; hypocalcified amelogenesis imperfecta	An amelogenesis imperfecta characterized by soft e..[+] An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. [-]
amelogenesis imperfecta type 3C	autosomal recessive amelogenesis imperfecta hypoca.. [+] autosomal recessive amelogenesis imperfecta hypocalcification type; amelogenesis imperfecta type IIIC; AI3C [-]	An amelogenesis imperfecta type 3 that is characte..[+] An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. [-]

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