Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 ???pagination.result.next???

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. [-]
Burn-McKeown syndrome	Choanal atresia - deafness - cardiac defects - dys.. [+] Choanal atresia - deafness - cardiac defects - dysmorphism syndrome [-]	A syndrome that is characterized by bilateral choa..[+] A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \nhearing loss, heart abnormalities, and short stature. [-]
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. [-]
beta-thalassemia major	Cooley's anemia	A beta thalassemia that is characterized by severe..[+] A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. [-]
beta-thalassemia intermedia		A beta thalassemia that is characterized by mild t..[+] A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. [-]
benign exocrine pancreas neoplasm		An endocrine organ benign neoplasm arising from th..[+] An endocrine organ benign neoplasm arising from the exocrine pancreas. [-]
Brown-Vialetto-Van Laere syndrome 1		A Brown-Vialetto-Van Laere syndrome that is charac..[+] A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. [-]
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
bladder sarcomatoid transitional cell carcinoma		A sarcomatoid transitional cell carcinoma that is ..[+] A sarcomatoid transitional cell carcinoma that is located_in the bladder. [-]
bladder small cell carcinoma		A bladder carcinoma that is characterized as an un..[+] A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. [-]
bilateral frontal polymicrogyria		A polymicrogyria that is characterized as a symmet..[+] A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. [-]
bilateral frontoparietal polymicrogyria		A polymicrogyria that is characterized by excessiv..[+] A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. [-]
bilateral parasagittal parieto-occipital polymicrogyria	bilateral temporooccipital polymicrogyria	A polymicrogyria that is characterized by bilatera..[+] A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. [-]
bilateral perisylvian polymicrogyria		A polymicrogyria that is characterized by striking..[+] A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. [-]
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 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. [-]
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. [-]
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. [-]
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. [-]
benign familial infantile seizures 1	Benign Familial Infantile Seizures, 1	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. [-]
benign familial infantile seizures 2	Benign Familial Infantile Seizures, 2	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. [-]
benign familial infantile seizures 3	benign familial neonatal-infantile seizures; Benig.. [+] benign familial neonatal-infantile seizures; Benign Familial Infantile Seizures, 3 [-]	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. [-]
benign familial infantile seizures 4	Benign Familial Infantile Seizures, 4	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. [-]
benign familial infantile seizures 5	Benign Familial Infantile Seizures, 5	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. [-]
benign familial infantile seizures 6	Benign Familial Infantile Seizures, 6; Autosomal d.. [+] Benign Familial Infantile Seizures, 6; Autosomal dominant nocturnal frontal lobe epilepsy; nocturnal frontal lobe epilepsy-4 [-]	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. [-]
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. [-]
Becker disease		A myotonia congenita that is characterized by musc..[+] A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. [-]
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. [-]
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 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. [-]
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. [-]
brain small vessel disease 1	BSVD; BSVD1; brain small vessel disease with or wi.. [+] BSVD1; BSVD; brain small vessel disease with or without ocular anomalies; brain small vessel disease with hemorrhage; brain small vessel disease with Axenfeld-Riegar anomaly; COL4A1-related brain small vessel disease with hemorrhage; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
branched-chain keto acid dehydrogenase kinase deficiency	BCKDK deficiency; BCKDKD; autism-epilepsy syndrome.. [+] BCKDKD; BCKDK deficiency; autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. [-]
brachyolmia-amelogenesis imperfecta syndrome	dental anomalies and short stature; STHAG6; DASS; .. [+] dental anomalies and short stature; STHAG6; DASS; selective tooth agenesis 5; platyspondyly with amelogenesis imperfecta [-]	A syndrome characterized by skeletal dysplasia (br..[+] A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. [-]
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 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 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. [-]
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. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 ???pagination.result.next???