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Disease	Synonyms	Description	Articles
Baraitser-Winter syndrome 1		A Baraitser-Winter syndrome that has_material_basi..[+] A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. [-]
Baraitser-Winter syndrome 2		A Baraitser-Winter syndrome that has_material_basi..[+] A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. [-]
Barber-Say syndrome		A syndrome characterized by d by the association o..[+] A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
Bardet-Biedl syndrome		A syndrome that results from mutations in multiple..[+] A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. [-]	6 articles
Bardet-Biedl syndrome 1	BBS1;	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. [-]
Bardet-Biedl syndrome 10	BBS10;	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 BBS10 gene on chromosome 12q21. [-]
Bardet-Biedl syndrome 11	BBS11;	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. [-]
Bardet-Biedl syndrome 12	BBS12;	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 BBS12 gene on chromosome 4q27. [-]	1 articles
Bardet-Biedl syndrome 13	BBS13;	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. [-]
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. [-]
Bardet-Biedl syndrome 2	BBS2;	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 BBS2 gene on chromosome 16q13. [-]
Bardet-Biedl syndrome 20		A Bardet-Biedl syndrome that is characterized by r..[+] A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. [-]
Bardet-Biedl syndrome 22		A Bardet-Biedl syndrome that is retinitis pigmento..[+] A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. [-]
Bardet-Biedl syndrome 3	BBS3;	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. [-]
Bardet-Biedl syndrome 4	BBS4;	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. [-]

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