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Disease	Synonyms	Description	Articles
Andersen-Tawil syndrome	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS.. [+] ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS; Long QT syndrome 7; LQT7; Andersen syndrome ; Potassium-Sensitive Cardiodysrhythmic Type; [-]	A long QT syndrome that has_material_basis_in auto..[+] A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. [-]	6 articles
Angelman syndrome	puppetlike syndrome; happy puppet syndrome;	A syndrome that is characterized by delayed develo..[+] A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. [-]
Angelucci's syndrome	acute atopic conjunctivitis; Angelucci syndrome;	n_a
Antley-Bixler syndrome	Antley and Bixler's syndrome; Antley Bixler syndro.. [+] Antley and Bixler's syndrome; Antley Bixler syndrome; [-]	A craniosynostosis that is characterized by radioh..[+] A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. [-]
Antley-Bixler syndrome with disordered steroidogenesis	trapezoidocephaly-synostosis syndrome;	An Antley-Bixler syndrome that is characterized at..[+] An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. [-]
Antley-Bixler syndrome without disordered steroidogenesis		An Antley-Bixler syndrome that has_material_basis_..[+] An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. [-]
Arboleda-Tham syndrome	autosomal dominant mental retardation 32; ARTHS; a.. [+] autosomal dominant mental retardation 32; ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant non-syndromic intellectual disability 32; MRD32; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. [-]
Arenaviridae infectious disease		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. [-]
Argentine hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. [-]
Argyll Robertson pupil	Argyll Robertson phenomenon or pupil, nonsyphiliti.. [+] Argyll Robertson phenomenon or pupil, nonsyphilitic; Atypical Argyll-Robertson pupil; Argyll Robertson pupil, atypical; [-]	An abnormal pupillary function characterized by a ..[+] An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. [-]
Armfield syndrome	Armfield X-linked mental retardation syndrome; men.. [+] Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; syndromic X-linked mental retardation Armfield type; X-linked intellectual disability, Armfield type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
Arts syndrome	ARTS; fatal X-linked ataxia with deafness and loss.. [+] ARTS; fatal X-linked ataxia with deafness and loss of vision; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy; MRXS18; [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
Askin's tumor	Askin tumor; Askin tumour; Askin's tumour;	An Ewing sarcoma that arises from the soft tissues..[+] An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. [-]
Asperger syndrome		An autism spectrum disorder that is characterized ..[+] 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 Rickett..[+] 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..[+] 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; RGS - Rieger syndrome; Rieger's.. [+] Anomaly, Rieger's; RGS - Rieger syndrome; Rieger's anomaly; Axenfeld syndrome ; Hagedoom syndrome; [-]	An eye disease characterized by abnormalities of t..[+] An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]	3 articles
Axenfeld-Rieger syndrome type 1	RIEG1; Rieger syndrome type 1;	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. [-]	2 articles
Axenfeld-Rieger syndrome type 2	RIEG2; Rieger syndrome type 2;	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. [-]
Axenfeld-Rieger syndrome type 3	anterior chamber cleavage syndrome; Axenfeld-Riege.. [+] 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 basi..[+] 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 d.. [+] AYGRP; cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation; [-]	A syndrome characterized by congenital cataracts, ..[+] 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 acute lymphoblastic leukemia with DUX4 rearrangement		A B lymphoblastic leukemia/lymphoma that is associ..[+] A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. [-]
B acute lymphoblastic leukemia with PAX5 P80R mutation		A B-lymphoblastic leukemia/lymphoma that is associ..[+] A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. [-]
B cell and dendritic cell deficiency		A combined immunodeficiency characterized by impai..[+] A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. [-]
B cell deficiency	Immunoglobulin heavy chain deficiency (disorder); .. [+] Immunoglobulin heavy chain deficiency (disorder); immunoglobulin heavy chain deletion; B cell (antibody) deficiencies; Immunoglobulin heavy chain deficiency; [-]	A primary immunnodeficiency disease that is caused..[+] 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;.. [+] BLNK deficiency; B-cell linker protein deficiency; [-]	A hypobammaglobulinemia that is a B cell deficienc..[+] 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 lymph.. [+] B acute lymphoblastic leukemia; B-cell acute lymphocytic leukemia; [-]	An acute lymphocytic leukemia characterized by too..[+] 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.. [+] 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-lymphoblastic leukaemia; B-cell adult acute lymphocytic leukaemia; adult b-cell lymphocytic leukemia; [-]	An adult acute lymphoblastic leukemia occurring in..[+] An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. [-]
B-cell lymphoma	B-cell lymphocytic neoplasm;	A non-Hodgkin lymphoma that has_material_basis_in ..[+] A non-Hodgkin lymphoma that has_material_basis_in B cells. [-]	1 articles
B-cell prolymphocytic leukemia	B Cell Prolymphocytic Leukemia; Prolymphocytic leu.. [+] B Cell Prolymphocytic Leukemia; Prolymphocytic leukemia, B-cell type; [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. [-]
B-lymphoblastic leukemia/lymphoma	precursor B lymphoblastic lymphoma/leukemia; B lym.. [+] precursor B lymphoblastic lymphoma/leukemia; B lymphoblastic leukemia/lymphoma; B-ALL; [-]	A B-cell acute lymphoblastic leukemia that is char..[+] 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/l.. [+] B-ALL KMT2A rearranged; B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged; [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] 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/lymp.. [+] 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_f..[+] 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/ly.. [+] 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 charac..[+] 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/lymph.. [+] 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 charac..[+] 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;p1.. [+] 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 charac..[+] 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 compos..[+] 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 compos..[+] 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 .. [+] 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. [-]

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