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Disease	Synonyms	Description	Articles
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. [-]
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like	B-ALL BCR-ABL1–like; B lymphoblastic leukemia/lymp.. [+] B-ALL BCR-ABL1–like; B lymphoblastic leukemia/lymphoma, BCR-ABL1-like; [-]	A B-lymphoblastic leukemia/lymphoma that has a gen..[+] A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. [-]
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. [-]
BCOR ITD sarcoma		A sarcoma with BCOR genetic alterations that is ch..[+] A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. [-]
BCOR-CCNB3 sarcoma		A sarcoma with BCOR genetic alterations that is ch..[+] A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. [-]
BH4-deficient hyperphenylalaninemia A	HPABH4A; hyperphenylalaninemia due to 6-pyruvoylte.. [+] HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS 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 that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
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; [-]	n_a
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. [-]

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