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??? 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 ???pagination.result.next???

Disease	Synonyms	Description	Articles
DOORS syndrome	DOOR syndrome; DOORS; deafness-onychoosteodystroph.. [+] DOORS; DOOR syndrome; deafness-onychoosteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; autosomal recessive deafness-onychodystrophy syndrome [-]	A syndrome characterized by sensorineural deafness..[+] A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. [-]
dihydropyrimidinase deficiency	DPH deficiency; DPYSD; DPYS deficiency; dihydropyr.. [+] DPYS deficiency; DPYSD; DPH deficiency; dihydropyrimidinuria [-]	A pyrimidine metabolic disorder characterized by a..[+] A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. [-]
diffuse cystic renal dysplasia	CYSRD; renal dysplasia diffuse cystic; susceptibil.. [+] CYSRD; renal dysplasia diffuse cystic; susceptibility to cystic renal dysplasia [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]	1 articles
Diamond-Blackfan anemia 7	DBA7; RPL11-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. [-]
Diamond-Blackfan anemia 6	DBA6; RPL5-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. [-]
Diamond-Blackfan anemia 17	DBA17; RPS27-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. [-]
Diamond-Blackfan anemia 8	DBA8; RPS7-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. [-]
Diamond-Blackfan anemia 12	DBA12; RPL15-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. [-]
Diamond-Blackfan anemia 5	DBA5; RPL35A-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. [-]
Diamond-Blackfan anemia 9	DBA9; RPS10-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. [-]
Diamond-Blackfan anemia 2	DBA2	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. [-]
Diamond-Blackfan anemia 19	DBA19; RPL35-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. [-]
Diamond-blackfan anemia 3	DBA3; RPS24-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. [-]
Diamond-Blackfan anemia 10	DBA10; RPS26-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. [-]
Diamond-Blackfan anemia 13	DBA13; RPS29-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. [-]
Diamond-Blackfan anemia 4	DBA4; RPS17-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. [-]
Diamond-Blackfan anemia 20	DBA20; RPS15A-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. [-]
Diamond-Blackfan anemia 11	DBA11; RPL26-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. [-]
Diamond-Blackfan anemia 16	DBA16; RPL27-related Diamond-Blackfan anemia	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. [-]
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	DBA15	A Diamond-Blackfan anemia characterized by Diamond..[+] A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. [-]

???pagination.result.page??? ???pagination.result.prev??? 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 ???pagination.result.next???