| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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distal arthrogryposis type 1B
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DA1B
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A distal arthrogryposis type 1 that has_material_b.. [+]A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.
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distal arthrogryposis type 2B
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DA2B; Freeman-Sheldon syndrome variant; Sheldon-Ha..
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DA2B; Freeman-Sheldon syndrome variant; Sheldon-Hall syndrome
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A distal arthrogryposis characterized by contractu.. [+]A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
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distal arthrogryposis type 2B1
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DA2B1
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A distal arthrogryposis type 2B that has_material_.. [+]A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
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distal arthrogryposis type 2B2
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DA2B2
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A distal arthrogryposis type 2B that has_material_.. [+]A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5.
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distal arthrogryposis type 2B3
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distal arthrogryposis type 2B3 (Sheldon-Hall); DA2..
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distal arthrogryposis type 2B3 (Sheldon-Hall); DA2B3
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A distal arthrogryposis type 2B that has_material_.. [+]A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
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distal arthrogryposis type 7
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DA7; Dutch-Kentucky syndrome; Hecht syndrome; Hech..
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Dutch-Kentucky syndrome; DA7; Hecht syndrome; Hecht-Beals syndrome; mouth, inability to completely open, and short finger-flexor tendons; trismus-pseudocamptodactyly syndrome
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A distal arthrogryposis characterized by inability.. [+]A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1.
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distal arthrogryposis type 2A
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distal arthrogryposis type 2A (Freeman-Sheldon); D..
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distal arthrogryposis type 2A (Freeman-Sheldon); DA2A
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A Freeman-Sheldon syndrome that has_material_basis.. [+]A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
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distal arthrogryposis type 3
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distal arthrogryposis multiplex congenita type IIA..
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distal arthrogryposis multiplex congenita type IIA; DA3; camptodactyly-cleft palate-clubfoot syndrome; Gordon syndrome
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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.
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distal arthrogryposis type 5
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distal arthrogryposis type IIB; distal arthrogrypo..
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distal arthrogryposis type IIB; distal arthrogryposis with ophthalmoplegia; DAIIB; DA5; oculomelic amyoplasia; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
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A distal arthrogryposis characterized by distal ar.. [+]A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
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distal arthrogryposis type 6
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DA6; familial hand abnormality and sensori-neural ..
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DA6; familial hand abnormality and sensori-neural deafness; arthrogryposis-like hand anomaly-sensorineural deafness syndrome; arthrogryposis and sensorineural deafness
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A distal arthrogryposis characterized by distal ar.. [+]A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.
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distal arthrogryposis type 4
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DA4; distal arthrogryposis type IID; DAIID; arthro..
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DAIID; distal arthrogryposis type IID; DA4; arthrogryposis-severe scoliosis syndrome
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A distal arthrogryposis characterized by distal ar.. [+]A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis.
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D-glyceric aciduria
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deficiency of glycerate kinase; D-glycericacidemia..
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deficiency of glycerate kinase; D-glycericacidemia; D-glyceric acidemia; D-glycerate kinase deficiency; non ketotic hyperglycinemia syndrome
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An inherited metabolic disorder characterized by i.. [+]An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
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DOORS syndrome
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DOOR syndrome; DOORS; deafness-onychoosteodystroph..
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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
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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.
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dihydropyrimidinase deficiency
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DPH deficiency; DPYSD; DPYS deficiency; dihydropyr..
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DPYS deficiency; DPYSD; DPH deficiency; dihydropyrimidinuria
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A pyrimidine metabolic disorder characterized by a.. [+]A pyrimidine metabolic disorder characterized by a defect in the degradation 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.
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diffuse cystic renal dysplasia
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CYSRD; renal dysplasia diffuse cystic; susceptibil..
[+]CYSRD; renal dysplasia diffuse cystic; susceptibility to cystic renal dysplasia
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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.
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1 articles
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Diamond-Blackfan anemia 7
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DBA7; RPL11-related Diamond-Blackfan anemia
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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.
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Diamond-Blackfan anemia 6
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DBA6; RPL5-related Diamond-Blackfan anemia
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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.
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Diamond-Blackfan anemia 17
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DBA17; RPS27-related Diamond-Blackfan anemia
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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.
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Diamond-Blackfan anemia 8
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DBA8; RPS7-related Diamond-Blackfan anemia
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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.
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Diamond-Blackfan anemia 12
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DBA12; RPL15-related Diamond-Blackfan anemia
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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.
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