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Disease	Synonyms	Description
Asperger syndrome		An autism spectrum disorder that is characterized by signifi..[+] An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. [-]
Astrakhan spotted fever		A spotted fever that has_material_basis_in Rickettsia conori..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
Athabaskan brainstem dysgenesis syndrome	NAVAJO BRAINSTEM SYNDROME;	A brain disease that is characterized by brainstem dysgenesi..[+] A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. [-]
Atlantic cod allergy	Gadus morhua fish allergy;	A fish allergy triggered by Gadus morhua.
Atlantic salmon allergy	Salmo salar fish allergy;	A fish allergy triggered by Salmo salar.
Axenfeld-Rieger syndrome	Anomaly, Rieger's; Hagedoom syndrome; RGS - Rieger syndrome;.. [+] Anomaly, Rieger's; Hagedoom syndrome; RGS - Rieger syndrome; Rieger's anomaly; Axenfeld syndrome ; [-]	An eye disease characterized by abnormalities of the front p..[+] An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]
Axenfeld-Rieger syndrome type 1	RIEG1; Rieger syndrome type 1;	An Axenfeld-Rieger syndrome that has material basis in heter..[+] An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. [-]
Axenfeld-Rieger syndrome type 2	RIEG2; Rieger syndrome type 2;	An Axenfeld-Rieger syndrome that has material basis in delet..[+] An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. [-]
Axenfeld-Rieger syndrome type 3	anterior chamber cleavage syndrome; Axenfeld-Rieger anomaly .. [+] anterior chamber cleavage syndrome; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; RIEG3; Rieger syndrome type 3; anterior segment mesenchymal dysgenesis; [-]	An Axenfeld-Rieger syndrome that has material basis in heter..[+] An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25. [-]
Ayme-Gripp syndrome	AYGRP; cataracts, congenital, with sensorineural deafness, D.. [+] AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation; [-]	A syndrome characterized by congenital cataracts, sensorineu..[+] A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. [-]
B cell and dendritic cell deficiency		A combined immunodeficiency characterized by impaired functi..[+] A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. [-]
B cell deficiency	Immunoglobulin heavy chain deficiency (disorder); immunoglob.. [+] Immunoglobulin heavy chain deficiency (disorder); immunoglobulin heavy chain deletion; B cell (antibody) deficiencies; [-]	A primary immunnodeficiency disease that is caused by a lack..[+] A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. [-]
B cell linker protein deficiency	BLNK deficiency; B-cell linker protein deficiency;	A hypobammaglobulinemia that is a B cell deficiency that has..[+] A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. [-]
B-cell acute lymphoblastic leukemia	B acute lymphoblastic leukemia; B-cell acute lymphocytic leu.. [+] B acute lymphoblastic leukemia; B-cell acute lymphocytic leukemia; [-]	An acute lymphocytic leukemia characterized by too many B-ce..[+] An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. [-]
B-cell adult acute lymphocytic leukemia	adult B acute lymphoblastic leukemia; adult b-cell acute lym.. [+] adult B acute lymphoblastic leukemia; adult b-cell acute lymphoblastic leukemia; adult B-lymphoblastic leukemia; adult B acute lymphoblastic leukaemia; adult b-cell acute lymphoblastic leukaemia; adult b-cell lymphocytic leukaemia; adult b-cell lymphocytic leukemia; adult B-lymphoblastic leukaemia; B-cell adult acute lymphocytic leukaemia; [-]	An adult acute ymphoblastic leukemia occurring in adults and..[+] An adult acute ymphoblastic leukemia occurring in adults and that has_mateiral_basis_in B lymphocytes. [-]
B-cell lymphoma	B-cell lymphocytic neoplasm;	A non-Hodgkin lymphoma that has_material_basis_in B cells.
B-lymphoblastic leukemia/lymphoma	B-ALL; precursor B lymphoblastic lymphoma/leukemia;	A B-cell acute lymphoblastic leukemia that is characterized ..[+] A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. [-]
B-lymphoblastic leukemia/lymphoma KMT2A rearranged	B-ALL KMT2A rearranged; B-lymphoblastic leukemia/lymphoma wi.. [+] B-ALL KMT2A rearranged; B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged; [-]	A B-lymphoblastic leukemia/lymphoma that is characterized by..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. [-]
B-lymphoblastic leukemia/lymphoma with BCR-ABL1	B-ALL with BCR-ABL1; B-lymphoblastic leukemia/lymphoma with .. [+] B-ALL with BCR-ABL1; B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1; [-]	A B-lymphoblastic leukemia/lymphoma that derives_from B-lymp..[+] A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. [-]
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1	B-ALL with ETV6-RUNX1; B-lymphoblastic leukemia/lymphoma wit.. [+] B-ALL with ETV6-RUNX1; B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1; [-]	A B-lymphoblastic leukemia/lymphoma that is characterized by..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. [-]
B-lymphoblastic leukemia/lymphoma with IL3-IGH	B-ALL with IL3-IGH; B-lymphoblastic leukemia/lymphoma with t.. [+] B-ALL with IL3-IGH; B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH; [-]	A B-lymphoblastic leukemia/lymphoma that is characterized by..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). [-]
B-lymphoblastic leukemia/lymphoma with TCF3-PBX1	B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-.. [+] B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1); B-ALL with TCF3-PBX1; B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1; [-]	A B-lymphoblastic leukemia/lymphoma that is characterized by..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. [-]
B-lymphoblastic leukemia/lymphoma with hyperdiploidy	B-ALL with hyperdiploidy;	A B-lymphoblastic leukemia/lymphoma that is composed of B-l..[+] A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. [-]
B-lymphoblastic leukemia/lymphoma with hypodiploidy	B-ALL with hypodiploidy;	A B-lymphoblastic leukemia/lymphoma that is composed of B-ly..[+] A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. [-]
B-lymphoblastic leukemia/lymphoma with iAMP21	B-ALL with iAMP21; Intrachromosomal amplification of chromos.. [+] B-ALL with iAMP21; Intrachromosomal amplification of chromosome 21 (iAMP21); [-]	A B-lymphoblastic leukemia/lymphoma that is characterized by..[+] 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;	A B-lymphoblastic leukemia/lymphoma that has a gene expressi..[+] 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 neonatal bl..[+] An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. [-]
Baastrup's syndrome	Baastrup syndrome; Kissing spine;	n_a
Balkan hemorrhagic fever		A hemorrhagic fever with renal syndrome that results_in infe..[+] 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 familial nephro.. [+] Balkan endemic nephropathy; Danubian endemic familial nephropathy; DEFN ; [-]	An interstitial nephritis endemic to the regions along the D..[+] 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 and E comb.. [+] Ballard type brachydactyly; brachydactyly types B and E combined; Pitt-Williams brachydactyly; [-]	A brachydactyly characterized by autosomal dominant inherita..[+] 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 craniosynostosis, shor..[+] 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; Tumefactive multi.. [+] Balo's concentric sclerosis; Balo disease; Tumefactive multiple sclerosis; [-]	A multiple sclerosis that is characterized by concentric lay..[+] 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 CLEFT PALATE.. [+] HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE; [-]	n_a
Bannayan-Riley-Ruvalcaba syndrome	BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RUVALCABA-MY.. [+] BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RUVALCABA-MYHRE-SMITH SYNDROME; Bannayan-Zonana syndrome; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; [-]	A syndrome that is characterized by macrocephaly, multiple n..[+] A 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 features incl..[+] 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. [-]
Barber-Say syndrome		A syndrome characterized by d by the association of excessiv..[+] 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 BBS genes..[+] 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. [-]
Bardet-Biedl syndrome 1	BBS1;	A Bardet-Biedl syndrome that has material basis in homozygou..[+] 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 homozygou..[+] 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 mutation ..[+] 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 homozygou..[+] 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 compound ..[+] 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 homozygou..[+] 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 homozygou..[+] 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 homozygou..[+] 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 homozygou..[+] 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 homozygou..[+] 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 homozygou..[+] 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 homozygou..[+] A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. [-]

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