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Disease	Synonyms	Description	Articles
BH4-deficient hyperphenylalaninemia B	GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahyd.. [+] GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B; [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. [-]
BH4-deficient hyperphenylalaninemia C	tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+] tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency; [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. [-]
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. [-]
BN2 diffuse large B-cell lymphoma	BN2 DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. [-]
Baastrup's syndrome	Baastrup syndrome; Kissing spine;	n_a
Bainbridge-Ropers syndrome	ASXL3-related disorder;	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. [-]	1 articles
Balkan hemorrhagic fever		A hemorrhagic fever with renal syndrome that resul..[+] A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. [-]
Balkan nephropathy	Danubian endemic familial nephropathy; DEFN ; Balk.. [+] Danubian endemic familial nephropathy; DEFN ; Balkan endemic nephropathy; [-]	An interstitial nephritis endemic to the regions a..[+] An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. [-]
Ballard syndrome	Ballard type brachydactyly; brachydactyly types B .. [+] Ballard type brachydactyly; brachydactyly types B and E combined; 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. [-]
Baller-Gerold syndrome		A synostosis characterized by coronal craniosynost..[+] A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. [-]
Balo concentric sclerosis	Balo's concentric sclerosis; Balo disease; Tumefac.. [+] Balo's concentric sclerosis; Balo disease; Tumefactive multiple sclerosis; [-]	A multiple sclerosis that is characterized by conc..[+] A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. [-]
Bamforth-Lazarus syndrome	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL.. [+] HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE; [-]	A hypothyroidism that is characterized by thyroid ..[+] A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. [-]
Bannayan-Riley-Ruvalcaba syndrome	BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RU.. [+] BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RUVALCABA-MYHRE-SMITH SYNDROME; Bannayan-Zonana syndrome; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; Cowden syndrome 1; [-]	A Cowden syndrome that is characterized by macroce..[+] A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. [-]
Baraitser-Winter syndrome		A syndrome characterized by distinctive facial fea..[+] A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. [-]
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 21		A Bardet-Biedl syndrome that is characterized by o..[+] A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. [-]
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. [-]
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. [-]	1 articles
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. [-]
Barmah Forest virus disease		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. [-]
Barre-Lieou syndrome	Cervicocranial syndrome; Cervicocranial syndrome (.. [+] Cervicocranial syndrome; Cervicocranial syndrome (disorder); Posterior cervical sympathetic syndrome; [-]	A syndrome that involves occipital head aches, nys..[+] A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. [-]
Barrett's adenocarcinoma	adenocarcinoma Arising in Barrett's Mucosa; Barret.. [+] adenocarcinoma Arising in Barrett's Mucosa; Barrett adenocarcinoma; [-]	n_a
Barrett's esophagus	(ulcerative esophagitis) or (Barrett's esophagus);.. [+] (ulcerative esophagitis) or (Barrett's esophagus); Barrett esophagus; Barrett's esophagus with esophagitis; Barrett's ulcer of esophagus; Barretts syndrome; CLE; ulcerative esophagitis; Barrett's oesophagus; [-]	An esophageal disease characterized by a change of..[+] An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. [-]	1 articles
Bart-Pumphrey syndrome	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFN.. [+] KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; [-]	A syndrome that is characterized by leukonychia, w..[+] A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. [-]	1 articles
Barth syndrome	3-methylglutaconicaciduria type 2; 3-methylglutaco.. [+] 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA type II; MGA Type 2; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [-]
Bartholin's duct cyst	Cyst of Bartholin's gland; Cyst of Bartholin's gla.. [+] Cyst of Bartholin's gland; Cyst of Bartholin's gland duct; Bartholin duct cyst; Bartholin's Cyst; [-]	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. [-]
Bartholin's gland adenocarcinoma	adenocarcinoma of the Bartholin's gland; Bartholin.. [+] adenocarcinoma of the Bartholin's gland; Bartholin gland adenocarcinoma; adenocarcinoma of bartholin's gland; [-]	A Bartholin's gland carcinoma that derives_from ep..[+] A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. [-]
Bartholin's gland adenoid cystic carcinoma	Bartholin gland adenoid cystic carcinoma;	n_a
Bartholin's gland adenoma	Bartholin gland adenoma;	A Bartholin's gland benign neoplasm that is charac..[+] A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. [-]

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