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Disease	Synonyms	Description	Articles
SHORT syndrome	Rieger anomaly-partial lipodystrophy syndrome; Aar.. [+] Rieger anomaly-partial lipodystrophy syndrome; Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger anomaly-diabetes syndrome; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
congenital vertical talus	rocker-bottom foot deformity; congenital convex fo.. [+] rocker-bottom foot deformity; congenital convex foot; congenital convex pes valgus; CVT; congenital rocker-bottom foot [-]	A connective tissue disease characterized by dislo..[+] A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. [-]
autosomal recessive spinocerebellar ataxia 8	recessive ataxia of Beauce; ARCA1; autosomal reces.. [+] recessive ataxia of Beauce; ARCA1; autosomal recessive ataxia, Beauce type; Autosomal recessive cerebellar ataxia type 1; SCAR8; SYNE1-related autosomal recessive cerebellar ataxia [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. [-]
diffuse cystic renal dysplasia	renal dysplasia diffuse cystic; CYSRD; susceptibil.. [+] renal dysplasia diffuse cystic; CYSRD; 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
syndactyly type 3	ringand little finger syndactyly; SDTY3; syndactyl.. [+] ringand little finger syndactyly; SDTY3; syndactyly of fingers 4 and 5; syndactyly, type III [-]	A syndactyly characterized by complete and bilater..[+] A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. [-]
congenital nongoitrous hypothyroidism 7	resistance to thyrotropin-releasing hormone syndro.. [+] resistance to thyrotropin-releasing hormone syndrome; central hypothyroidism due to TRH receptor deficiency; CHNG7; TRH resistance syndrome [-]	A congenital hypothyroidism characterized by norma..[+] A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. [-]
Diamond-Blackfan anemia 7	RPL11-related Diamond-Blackfan anemia; DBA7	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	RPL5-related Diamond-Blackfan anemia; DBA6	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	RPS27-related Diamond-Blackfan anemia; DBA17	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	RPS7-related Diamond-Blackfan anemia; DBA8	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	RPL15-related Diamond-Blackfan anemia; DBA12	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	RPL35A-related Diamond-Blackfan anemia; DBA5	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	RPS10-related Diamond-Blackfan anemia; DBA9	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 19	RPL35-related Diamond-Blackfan anemia; DBA19	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	RPS24-related Diamond-Blackfan anemia; DBA3	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	RPS26-related Diamond-Blackfan anemia; DBA10	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	RPS29-related Diamond-Blackfan anemia; DBA13	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	RPS17-related Diamond-Blackfan anemia; DBA4	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	RPS15A-related Diamond-Blackfan anemia; DBA20	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	RPL26-related Diamond-Blackfan anemia; DBA11	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	RPL27-related Diamond-Blackfan anemia; DBA16	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 1	RPS19-related Diamond-Blackfan anemia; DBA1	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. [-]
Diamond-Blackfan anemia 18	RPL18-related Diamond-Blackfan anemia; DBA18	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. [-]
X-Linked immunodeficiency 74	respiratory insufficiency due to SARS-CoV-2 viral .. [+] respiratory insufficiency due to SARS-CoV-2 viral infection; IMD74; TLR7 deficiency; X-linked immunodeficiency 74,COVID-19-related [-]	A T cell deficiency characterized by severe respir..[+] A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome	Rokitansky syndrome; MRKH syndrome	A syndrome characterized by aplasia of the uterus ..[+] A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome type 1	Rokitansky sequence; congenital absence of uterus .. [+] Rokitansky sequence; congenital absence of uterus and vagina; MRKH syndrome type 1 [-]	A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+] A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. [-]

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