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Disease	Synonyms	Description
B-lymphoblastic leukemia/lymphoma with iAMP21	B-ALL with iAMP21; Intrachromosomal amplification .. [+] B-ALL with iAMP21; Intrachromosomal amplification of chromosome 21 (iAMP21); [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. [-]
BASAN syndrome		An ectodermal dysplasia that is characterized by n..[+] An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. [-]
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. [-]
Baastrup's syndrome	Baastrup syndrome; Kissing spine;	n_a
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 hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. [-]
Balkan nephropathy	Balkan endemic nephropathy; Danubian endemic famil.. [+] Balkan endemic nephropathy; Danubian endemic familial nephropathy; DEFN ; [-]	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;	A demyelinating disease characterized by the fact ..[+] A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. [-]
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; Cowden syndrome 1; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; [-]	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 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		An autosomal recessive disease that results from m..[+] An autosomal recessive disease 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. [-]
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. [-]
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 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 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. [-]
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 oesophagus; Barrett's ulcer of esophagus; Barretts syndrome; CLE; ulcerative esophagitis; [-]	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. [-]
Bart-Pumphrey syndrome	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFN.. [+] KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; [-]	n_a
Barth syndrome	3-methylglutaconicaciduria type 2; 3-methylglutaco.. [+] 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA Type 2; MGA type II; [-]	A lipid metabolism disorder that has_material_basi..[+] A lipid metabolism disorder 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	Bartholin duct cyst; Bartholin's Cyst; Cyst of Bar.. [+] Bartholin duct cyst; Bartholin's Cyst; Cyst of Bartholin's gland; Cyst of Bartholin's gland duct; [-]	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 bartholin's gland; adenocarcinom.. [+] adenocarcinoma of bartholin's gland; adenocarcinoma of the Bartholin's gland; Bartholin gland adenocarcinoma; [-]	n_a
Bartholin's gland adenoid cystic carcinoma	Bartholin gland adenoid cystic carcinoma;	A Bartholin's gland carcinoma that is characterize..[+] A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. [-]
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. [-]
Bartholin's gland adenomyoma	Bartholin gland adenomyoma;	n_a
Bartholin's gland adenosquamous carcinoma	Bartholin gland adenosquamous carcinoma;	A Bartholin's gland carcinoma that derives_from sq..[+] A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. [-]
Bartholin's gland benign neoplasm	Bartholin gland neoplasm; tumor of Bartholin's gla.. [+] Bartholin gland neoplasm; tumor of Bartholin's gland; [-]	n_a
Bartholin's gland cancer		A vulva cancer that is located in Bartholin's glan..[+] A vulva cancer that is located in Bartholin's gland. [-]
Bartholin's gland carcinoma	Bartholin gland carcinoma; Bartholin's gland cance.. [+] Bartholin gland carcinoma; Bartholin's gland cancer; carcinoma of Bartholin's gland; [-]	A vulva carcinoma that has_material_basis_in abnor..[+] A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. [-]

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