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Disease	Synonyms	Description	Articles
congenital secretory sodium diarrhea 8	DIAR8	A secretory diarrhea that has_material_basis_in ho..[+] A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. [-]
hypomyelinating leukodystrophy 7	dentoleukoencephalopathy; TACH syndrome; ataxia-de.. [+] dentoleukoencephalopathy; TACH syndrome; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
septooptic dysplasia	De Morsier syndrome; septo-optic dysplasia; SOD	A syndrome characterized by the classical triad of..[+] A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. [-]
isolated growth hormone deficiency type IB	dwarfism of Sindh; congenital IGHD type IB; congen.. [+] dwarfism of Sindh; congenital IGHD type IB; congenital isolated GH deficiency type IB; congenital isolated growth hormone deficiency type IB; IGHD IB [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. [-]
Parkinson's disease 14	Dystonia-Parkinsonism Adult-Onset; autosomal reces.. [+] Dystonia-Parkinsonism Adult-Onset; autosomal recessive Parkinson disease 14; autosomal recessive Parkinson's disease 14 [-]	A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. [-]
autosomal recessive nonsyndromic deafness 125	DFNB125; autosomal recessive deafness 125	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14. [-]
autosomal dominant dyskeratosis congenita 1	Dyskeratosis Congenita, Scoggins Type; DKCA1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. [-]
autosomal recessive dyskeratosis congenita 1	DKCB1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. [-]
autosomal dominant dyskeratosis congenita 2	DKCA2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 2	DKCB2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. [-]
autosomal dominant dyskeratosis congenita 3	DKCA3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. [-]
autosomal recessive dyskeratosis congenita 3	DKCB3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. [-]
autosomal dominant dyskeratosis congenita 4	DKCA4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal recessive dyskeratosis congenita 4	DKCB4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 5	DKCB5	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal dominant dyskeratosis congenita 6	DKCA6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. [-]
autosomal recessive dyskeratosis congenita 6	DKCB6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. [-]
X-linked dyskeratosis congenita	DKCX; Zinsser-Cole-Engman syndrome	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. [-]
Revesz syndrome	DKCA5; Dyskeratosis Congenita, Autosomal Dominant .. [+] DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5; exudative retinopathy with bone marrow failure [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
autosomal dominant intellectual developmental disorder 7	DYRK1A syndrome; autosomal dominant non-syndromic .. [+] DYRK1A syndrome; autosomal dominant non-syndromic intellectual disability 7; autosomal dominant mental retardation 7; MRD7 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. [-]	1 articles
autosomal recessive cutis laxa type IIIA	De Barsy syndrome A; ARCL3A	A autosomal recessive cutis laxa type III that has..[+] A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal recessive cutis laxa type IIIB	De Barsy syndrome B; ARCL3B	An autosomal recessive cutis laxa type III that ha..[+] An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. [-]
autosomal recessive cutis laxa type III	De Barsy syndrome; cutis laxa-corneal clouding-int.. [+] De Barsy syndrome; cutis laxa-corneal clouding-intellectual disability syndrome [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]
autosomal recessive chronic granulomatous disease 2	deficiency of NCF2; deficiency of p67-PHOX; autoso.. [+] deficiency of p67-PHOX; deficiency of NCF2; autosomal recessive chronic granulomatous disease 2; CDG2; autosomal recessive chronic granulomatous disease cytochrome b-positive type II; chronic granulomatous disease due to deficiency of NCF-2 [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. [-]
autosomal recessive chronic granulomatous disease 1	deficiency of soluble oxidase component II; defici.. [+] deficiency of soluble oxidase component II; deficiency of SOC2; deficiency of p47-PHOX; deficiency of neutrophil cytosol factor 1; deficiency of NCF1; autosomal recessive chronic granulomatous disease cytochrome b-positive type I; CDG1; chronic granulomatous disease due to deficiency of NCF-1 [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. [-]
primary coenzyme Q10 deficiency 2	deafness-encephaloneuropathy-obesity-valvulopathy .. [+] deafness-encephaloneuropathy-obesity-valvulopathy syndrome; COQ10D2; coenzyme Q10 deficiency, primary, 2; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. [-]
congenital disorder of glycosylation type IIm	developmental and epileptic encephalopathy 22; DEE.. [+] developmental and epileptic encephalopathy 22; DEE22; CDG IIm; CDGIIm; EIEE22; congenital disorder of glycosylation type 2m; epileptic encephalopathy, early infantile, 22; SLC35A2-CDG [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	DES-VLDLR; dysequilibrium syndrome-VLDLR; CAMRQ sy.. [+] dysequilibrium syndrome-VLDLR; DES-VLDLR; CAMRQ syndrome 1; CAMRQ1; cerebellar ataxia, mental retardation, and disequilibrium syndrome 1; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; cerebellar hypoplasia, VLDLR-associated; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1; VLDLR cerebellar hypoplasia; VLDLR-associated cerebellar hypoplasia; VLDLR-CH [-]	A cerebellar ataxia, impaired intellectual develop..[+] A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. [-]
glucose transporter type 1 deficiency syndrome 1	De Vivo disease; classic glucose transporter type .. [+] De Vivo disease; classic glucose transporter type 1 deficiency syndrome; classic GLUT1 deficiency syndrome; classic GLUT1-DS; encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1; GLUT1DS1 [-]	A glucose transporter type 1 deficiency syndrome c..[+] A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. [-]
autosomal dominant nonsyndromic deafness 37	DFNA37; autosomal dominant deafness 37	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. [-]
autosomal dominant nonsyndromic deafness 80	DFNA80; autosomal dominant deafness 80	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. [-]
autosomal dominant nonsyndromic deafness 82	DFNA82; autosomal dominant deafness 82	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. [-]
autosomal dominant nonsyndromic deafness 84	DFNA84; autosomal dominant deafness 84	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. [-]
autosomal dominant nonsyndromic deafness 85	DFNA85; autosomal dominant deafness 85	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. [-]
autosomal dominant nonsyndromic deafness 87	DFNA87; autosomal dominant deafness 87	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. [-]
autosomal dominant nonsyndromic deafness 90	DFNA90; autosomal dominant deafness 90	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. [-]
autosomal dominant nonsyndromic deafness 81	DFNA81; autosomal dominant deafness 81	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11. [-]
autosomal dominant nonsyndromic deafness 83	DFNA83; autosomal dominant deafness 83	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. [-]
autosomal dominant nonsyndromic deafness 86	DFNA86; autosomal dominant deafness 86	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. [-]
autosomal dominant nonsyndromic deafness 88	DFNA88; autosomal dominant deafness 88	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. [-]
autosomal dominant nonsyndromic deafness 89	DFNA89; autosomal dominant deafness 89	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22. [-]
myofibrillar myopathy 1	desminopathy; autosomal recessive limb-girdle musc.. [+] desminopathy; autosomal recessive limb-girdle muscular dystrophy type 2R [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. [-]
mitochondrial DNA depletion syndrome 3	deoxyguanosine kinase deficiency	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. [-]
Alpers-Huttenlocher syndrome	Diffuse Cerebral Sclerosis of Schilder; Alpers-Hut.. [+] Diffuse Cerebral Sclerosis of Schilder; Alpers-Huttenlocher syndrome; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy; Alper's syndrome; Alpers' disease or gray-matter degeneration; Polg disease [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 2	developmental and epileptic encephalopathy 20; ear.. [+] developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20; glycosylphosphatidylinositol biosynthesis defect 4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. [-]
herpes simplex virus keratitis	dendritic keratitis	A keratitis that has_material_basis_in herpes simp..[+] A keratitis that has_material_basis_in herpes simplex type infection. [-]
microcephaly, seizures, and developmental delay	developmental and epileptic encephalopathy 10; ear.. [+] developmental and epileptic encephalopathy 10; early infantile epileptic encephalopathy 10 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. [-]	1 articles
pustular psoriasis 14	deficiency of IL-36R antagonist; acrodermatitis co.. [+] deficiency of IL-36R antagonist; acrodermatitis continua of Hallopeau [-]	A psoriasis characterized by sudden, repeated epis..[+] A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. [-]
congenital disorder of glycosylation Im	DOLK-congenital disorder of glycosylation; dolicho.. [+] DOLK-congenital disorder of glycosylation; dolichol kinase deficiency; congenital disorder of glycosylation 1m [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. [-]
Wolfram syndrome, mitochondrial form	DIDMOAD, mitochondrial form; diabetes mellitus AND.. [+] DIDMOAD, mitochondrial form; diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form [-]	A Wolfram syndrome that has_material_basis_in muta..[+] A Wolfram syndrome that has_material_basis_in mutation in mtDNA. [-]

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