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Disease	Synonyms	Description	Articles
Bardet-Biedl syndrome 14	BBS14	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. [-]
Bardet-Biedl syndrome 15	BBS15	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the WDPCP gene on chromosome 2p15. [-]
Bardet-Biedl syndrome 16	BBS16	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. [-]
Bardet-Biedl syndrome 17	BBS17	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. [-]
Bardet-Biedl syndrome 18	BBS18	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBIP1 gene on chromosome 10q25. [-]
Bardet-Biedl syndrome 19	BBS19	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the IFT27 gene on chromosome 22q12. [-]
Bartter disease type 1	Bartter syndrome type 1 antenatal; Bartter syndrom.. [+] Bartter syndrome type 1 antenatal; Bartter syndrome type 1; BARTS1; hyperprostaglandin E syndrome 1; hypokalemic alkalosis with hypercalciuria 1 antenatal [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. [-]	1 articles
Bartter disease type 2	Bartter syndrome type 2 antenatal; Bartter syndrom.. [+] Bartter syndrome type 2 antenatal; Bartter syndrome type 2; BARTS2; hyperprostaglandin E syndrome 2; hypokalemic alkalosis with hypercalciuria 2 antenatal [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. [-]	1 articles
Bartter disease type 3	BARTS3; Bartter syndrome type 3; classic Bartter s.. [+] Bartter syndrome type 3; BARTS3; classic Bartter syndrome [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. [-]	2 articles
Bartter disease type 4a	BARTS4A; Bartter syndrome type 4a; BSND; neonatal .. [+] BSND; Bartter syndrome type 4a; BARTS4A; neonatal Bartter syndrome with sensorineural deafness [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. [-]
Bartter disease type 4b	Bartter syndrome, type 4b, digenic; BARTS4B; neona.. [+] BARTS4B; Bartter syndrome, type 4b, digenic; neonatal Bartter syndrome type 4B with sensorineural deafness [-]	A Bartter disease that has material basis in simul..[+] A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. [-]
Bartter disease type 5	Bartter syndrome, type 5, antenatal, transient; BA.. [+] Bartter syndrome, type 5, antenatal, transient; BARTS5 [-]	A Bartter disease that has material basis in mutat..[+] A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11. [-]
Brugada syndrome 1	BRGDA1	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22. [-]	1 articles
Brugada syndrome 2	BRGDA2	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. [-]
Brugada syndrome 3	BRGDA3	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. [-]
Brugada syndrome 4	BRGDA4	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. [-]
Brugada syndrome 5	BRGDA5	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. [-]
Brugada syndrome 6	BRGDA6	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. [-]
Brugada syndrome 7	BRGDA7	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. [-]
Brugada syndrome 8	BRGDA8	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. [-]
Brugada syndrome 9	BRGDA9	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13. [-]
brachydactyly-preaxial hallux varus syndrome	preaxial brachydactyly with hallux varus and thumb.. [+] preaxial brachydactyly with hallux varus and thumb abduction; Christian brachydactyly [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. [-]
Ballard syndrome	brachydactyly types B and E combined; Ballard type.. [+] brachydactyly types B and E combined; Ballard type brachydactyly; Pitt-Williams brachydactyly [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. [-]
brachydactyly type A1	BDA1; Farabee type brachydactyly	A brachydactyly characterized by rudimentary or fu..[+] A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. [-]
brachydactyly type A2	BDA2; brachymesophalangy II; Mohr-Wriedt type brac.. [+] brachymesophalangy II; BDA2; Mohr-Wriedt type brachydactyly [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. [-]
brachydactyly type A3	brachydactyly-clinodactyly; brachymesophalangy V; .. [+] brachymesophalangy V; brachydactyly-clinodactyly; BDA3 [-]	A brachydactyly characterized by shortening of the..[+] A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. [-]
brachydactyly type A4	BDA4; brachymesophalangy II and V; Temtamy type br.. [+] brachymesophalangy II and V; BDA4; Temtamy type brachydactyly [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. [-]
brachydactyly type A6	brachymesophalangy with mesomelic short limbs and .. [+] brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; BDA6; Osebold-Remondini syndrome [-]	A brachydactyly characterized by brachymesophalang..[+] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. [-]
brachydactyly type B1	BDB1	A brachydactyly characterized by short middle phal..[+] A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. [-]
brachydactyly type C	BDC	A brachydactyly characterized by rachymesophalangy..[+] A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
brachydactyly type D	BDD	A brachydactyly characterized by short and broad t..[+] A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. [-]
brachydactyly type E1	BDE1	A brachydactyly characterized by shortening of the..[+] A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [-]
brachydactyly type A1B	BDA1B	A brachydactyly type A1 characterized by shortened..[+] A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. [-]
brachydactyly type B2	BDB2	A brachydactyly characterized by hypoplasia/aplasi..[+] A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. [-]
brachydactyly type E2	BDE2	A characterized byautosomal dominant inheritance o..[+] A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. [-]
brachydactyly type A1C	BDA1C	A brachydactyly type A1 has_material_basis_in homo..[+] A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
brachydactyly type A1D	BDA1D	A brachydactyly type A1 that has_material_basis_in..[+] A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
Bernard-Soulier syndrome type A2	BSSA2	A Bernard-Soulier syndrome characterized by autoso..[+] A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. [-]
birdshot chorioretinopathy	birdshot retinochoroidopathy; BSCR; birdshot retin.. [+] BSCR; birdshot retinochoroidopathy; birdshot retinochoroiditis; birdshot chorioretinitis; vitiliginous choroiditis [-]	A posterior uveitis characterized by multiple smal..[+] A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. [-]
Boucher-Neuhauser syndrome	ataxia-hypogonadism-choroidal dystrophy syndrome	A syndrome characterized by spinocerebellar ataxia..[+] A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
benign familial hematuria	BFH; thin basement membrane nephropathy; thin memb.. [+] BFH; thin basement membrane nephropathy; thin membrane nephropathy; TMN [-]	A urinary system disease characterized by the pres..[+] A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. [-]
Beukes hip dysplasia	BFHD; Beukes familial hip dysplasia; Beukes type h.. [+] Beukes familial hip dysplasia; BFHD; Beukes type hip dysplasia; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip [-]	An osteoarthritis characterized by bilateral dysmo..[+] An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. [-]
branchiootorenal syndrome 1	BOR1	A branchiootorenal syndrome that has_material_basi..[+] A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. [-]
branchiootorenal syndrome 2	BOR2	A branchiootorenal syndrome that has_material_basi..[+] A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. [-]
bilateral optic nerve hypoplasia	familial bilateral optic nerve hypoplasia; isolate.. [+] familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia; ONH [-]	An optic nerve disease characterized by isolated o..[+] An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
Buschke-Ollendorff syndrome	BOS; dermatofibrosis lenticularis disseminata with.. [+] BOS; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata; dermatoosteopoikilosis [-]	A syndrome characterized by multiple subcutaneous ..[+] A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. [-]
Behr syndrome	BEHRS; Abortive cerebellar ataxia (BEHRS); optic a.. [+] BEHRS; Abortive cerebellar ataxia (BEHRS); optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of [-]	A nervous system disease characterized by early-on..[+] A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
Bothnian type palmoplantar keratoderma	diffuse palmoplantar keratoderma, Bothnian type; P.. [+] diffuse palmoplantar keratoderma, Bothnian type; PPKB [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. [-]
Basilicata-Akhtar syndrome	MRXS36; X-linked syndromic mental retardation 36; .. [+] MRXS36; X-linked syndromic mental retardation 36; X-linked syndromic mental retardation Basilicata-Akhtar type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. [-]
B cell and dendritic cell deficiency		A combined immunodeficiency characterized by impai..[+] A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. [-]

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