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Disease	Synonyms	Description
BH4-deficient hyperphenylalaninemia D	tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+] tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. [-]
breast implant illness		A syndrome that is characterized by fatigue, probl..[+] A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. [-]
Bh4-deficient hyperphenylalaninemia A	6-pyruvoyl-tetrahydropterin synthase deficiency; H.. [+] 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1. [-]
brain small vessel disease 1	BSVD; BSVD1; brain small vessel disease with or wi.. [+] BSVD1; BSVD; brain small vessel disease with or without ocular anomalies; brain small vessel disease with hemorrhage; brain small vessel disease with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; COL4A1-related brain small vessel disease with hemorrhage; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly; COL4A1-related familial vascular leukoencephalopathy [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
branched-chain keto acid dehydrogenase kinase deficiency	BCKDK deficiency; BCKDKD; autism-epilepsy syndrome.. [+] BCKDKD; BCKDK deficiency; autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [-]	An autosomal recessive disease characterized by au..[+] An autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the BCKDK gene on chromosome 16p11. [-]
brachyolmia-amelogenesis imperfecta syndrome	DASS; dental anomalies and short stature; platyspo.. [+] DASS; dental anomalies and short stature; platyspondyly with amelogenesis imperfecta; selective tooth agenesis 5; STHAG6 [-]	An autosomal recessive disease characterized by sk..[+] An autosomal recessive disease characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [-]
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 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 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. [-]
Bardet-Biedl syndrome 5	BBS5	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS5 gene on chromosome 2q31. [-]
Bardet-Biedl syndrome 6	BBS6	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 MKKS gene on chromosome 20p12. [-]
Bardet-Biedl syndrome 7	BBS7	A Bardet-Biedl syndrome that has_material_basis_in..[+] A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. [-]
Bardet-Biedl syndrome 8	BBS8	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31. [-]
Bardet-Biedl syndrome 9	BBS9	A Bardet-Biedl syndrome that has material basis in..[+] A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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	BARTS4B; Bartter syndrome, type 4b, digenic; neona.. [+] Bartter syndrome, type 4b, digenic; BARTS4B; 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. [-]
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	Christian brachydactyly; preaxial brachydactyly wi.. [+] Christian brachydactyly; preaxial brachydactyly with hallux varus and thumb abduction [-]	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. [-]

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