Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11

Disease	Synonyms	Description
large congenital melanocytic nevus	Giant pigmented hairy nevus; GMN; Giant congenital.. [+] GMN; Giant pigmented hairy nevus; Giant congenital melanocytic nevus; Congenital pigmented nevus; LCMN [-]	A skin disease characterized by the presence at bi..[+] A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. [-]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	glomerulonephritis with sparse hair and telangiect.. [+] glomerulonephritis with sparse hair and telangiectases; HLT-renal defect syndrome; HLTRS; telangiectatic membranoproliferative glomerulonephritis; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome [-]	A syndrome characterized by onset in childhood of ..[+] A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
mucopolysaccharidosis Ih	gargoylism; Hurler disease MPS type 1H; Hurler-Pfa.. [+] gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; MPS1-H; Mucopolysaccharidosis type I severe form; L-iduronidase deficiency, Hurler type; dysostosis multiplex; Dysostosis multiplex syndrome [-]	A mucopolysaccharidosis I characterized by a sever..[+] A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
mucopolysaccharidosis IVA	GALNS deficiency; Morquio A disease; Morquio syndr.. [+] GALNS deficiency; Morquio A disease; Morquio syndrome A; MPS IVA; MPS4A [-]	A mucopolysaccharidosis IV characterized by intrac..[+] A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. [-]
mucopolysaccharidosis type IIID	GNS deficiency; MPS IIID; N-acetylglucosamine-6-su.. [+] GNS deficiency; MPS IIID; N-acetylglucosamine-6-sulfatase deficiency; Sanfilippo syndrome D; Mucopolysaccharidosis type 3D; MPS3D; Sanfilippo syndrome type D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
progressive myoclonus epilepsy 6	GOSR2-related progressive myoclonus ataxia; EPM6; .. [+] GOSR2-related progressive myoclonus ataxia; EPM6; North Sea progressive myoclonus epilepsy; PME type 6; Progressive myoclonus epilepsy type 6 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
classic galactosemia	galactosemia type 1; GALT deficiency; galactose-1-.. [+] GALT deficiency; galactosemia type 1; galactose-1-phosphate uridyltransferase deficiency [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3. [-]
combined oxidative phosphorylation deficiency 18	growth and developmental delay-hypotonia-vision im.. [+] growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome; COXPD18 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	genital anomaly with cardiomyopathy; cardiogenital.. [+] genital anomaly with cardiomyopathy; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; Malouf syndrome; Najjar syndrome; dilated cardiomyopathy with premature ovarian failure [-]	A syndrome characterized by dilated cardiomyopathy..[+] A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
COACH syndrome	Gentile syndrome; cerebellar vermis hypo/aplasia, .. [+] Gentile syndrome; cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; JS-H; Joubert syndrome with congenital hepatic fibrosis; Joubert syndrome with hepatic defect [-]	A syndrome characterized by autosomal recessive in..[+] A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). [-]
distal arthrogryposis type 3	Gordon syndrome; camptodactyly-cleft palate-clubfo.. [+] Gordon syndrome; camptodactyly-cleft palate-clubfoot syndrome; DA3; distal arthrogryposis multiplex congenita type IIA [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. [-]
primary hyperoxaluria type 1	glycolic aciduria; alanine-glyoxylate aminotransfe.. [+] glycolic aciduria; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; serine pyruvate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
primary hyperoxaluria type 2	glyoxylate reductase/hydroxypyruvate reductase def.. [+] glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
X-linked thrombocytopenia with beta-thalassemia	GATA1-related X-linked cytopenia; beta-thalassemia.. [+] GATA1-related X-linked cytopenia; beta-thalassemia-X-linked thrombocytopenia syndrome; 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. [-]
46,XY sex reversal 7	GDXYM; gonadal dysgenesis, XY, male limited; 46,XY.. [+] gonadal dysgenesis, XY, male limited; GDXYM; 46,XY gonadal dysgenesis, partial or complete, DHH-related; 46,XY sex reversal, partial or complete, DHH-related; SRXY7 [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. [-]
phosphoglycerate kinase 1 deficiency	GSD due to phosphoglycerate kinase 1 deficiency; g.. [+] GSD due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency; glycogen storage disease due to phosphoglycerate kinase 1 deficiency; PGK1 deficiency [-]	A glucose metabolism disease characterized by impa..[+] A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. [-]
immunodeficiency 21	GATA2 deficiency; combined immunodeficiency with s.. [+] GATA2 deficiency; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; IMD21; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 59	granulocytopenia with immunoglobin abnormality; IM.. [+] granulocytopenia with immunoglobin abnormality; IMD59; immunodeficiency 59 and hypoglycemia [-]	A B cell and dendritic cell deficiency characteriz..[+] A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. [-]
thyroid dyshormonogenesis 5	genetic defect in thyroid hormonogenesis 5; TDH5	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. [-]
thyroid dyshormonogenesis 1	genetic defect in thyroid hormonogenesis 1; iodide.. [+] genetic defect in thyroid hormonogenesis 1; iodide accumulation, transport, or trapping defect; TDH1 [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. [-]
thyroid dyshormonogenesis 2A	genetic defect in thyroid hormonogenesis 2A; iodid.. [+] genetic defect in thyroid hormonogenesis 2A; iodide peroxidase deficiency; TDH2A; thyroid peroxidase deficiency [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. [-]
thyroid dyshormonogenesis 3	genetic defect in thyroid hormonogenesis 3; TDH3	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. [-]
thyroid dyshormonogenesis 4	genetic defect in thyroid hormonogenesis 4; deiodi.. [+] genetic defect in thyroid hormonogenesis 4; deiodinase deficiency; iodotyrosine dehalogenase deficiency; TDH4 [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. [-]
thyroid dyshormonogenesis 6	genetic defect in thyroid hormonogenesis 6; TDH6	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. [-]
developmental and epileptic encephalopathy 71	glutaminase deficiency with neonatal epileptic enc.. [+] glutaminase deficiency with neonatal epileptic encephalopathy; DEE71; early infantile epileptic encephalopathy 71 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 4	GPIBD19; glycosylphosphatidylinositol biosynthesis.. [+] GPIBD19; glycosylphosphatidylinositol biosynthesis defect 19; DEE77; developmental and epileptic encephalopathy 77; early infantile epileptic encephalopathy 77; MCAHS4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. [-]
developmental and epileptic encephalopathy 80	GPIBD20; glycosylphosphatidylinositol biosynthesis.. [+] GPIBD20; glycosylphosphatidylinositol biosynthesis defect 20; DEE80; early infantile epileptic encephalopathy 80 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. [-]
chondrodysplasia with joint dislocations gPAPP type	gPAPP deficiency	An osteochondrodysplasia characterized by prenatal..[+] An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. [-]
BH4-deficient hyperphenylalaninemia B	GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahyd.. [+] GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. [-]
Mahvash Disease	GCGR-related hyperglucagonemia; nesidioblastosis, .. [+] GCGR-related hyperglucagonemia; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor [-]	An endocrine pancreas disease characterized by pan..[+] An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. [-]
central precocious puberty	gonadotropin-dependant precocious puberty; CPP	An endocrine system disease characterized by early..[+] An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. [-]
male infertility due to globozoospermia	globozoospermia syndrome	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11