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Disease	Synonyms	Description	Articles
Fanconi anemia complementation group I	FANCI	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. [-]
Fanconi anemia complementation group P	FANCP	A Fanconi anemia characterized by increased chromo..[+] A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. [-]
Fanconi anemia complementation group Q	FANCQ	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. [-]
Fanconi anemia complementation group N	FANCN	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. [-]
Fanconi anemia complementation group A	FANCA	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. [-]	1 articles
Fanconi anemia complementation group O	FANCO	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. [-]
Fanconi anemia complementation group J	FANCJ	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. [-]	1 articles
Fanconi anemia complementation group B	FANCB; Fanconi pancytopenia type 2; FACB; FA2	A Fanconi anemia that has_material_basis_in mutati..[+] A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. [-]
focal segmental glomerulosclerosis 1	FSGS1	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. [-]
focal segmental glomerulosclerosis 2	FSGS2	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. [-]
focal segmental glomerulosclerosis 5	FSGS5	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. [-]
focal segmental glomerulosclerosis 6	FSGS6	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. [-]
focal segmental glomerulosclerosis 7	FSGS7	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. [-]
focal segmental glomerulosclerosis 8	FSGS8	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. [-]
focal segmental glomerulosclerosis 9	FSGS9	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. [-]
French Canadian Leigh disease	French Canadian type Leigh syndrome; French Canadi.. [+] French Canadian type Leigh syndrome; French Canadian type cytochrome c oxidase deficiency; French Canadian type COX deficiency; Saguenay Lac saint Jean type Leigh syndrome; Saguenay Lac saint Jean type COX deficiency; mitochondrial complex IV deficiency nuclear type 5 [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. [-]
familial hemiplegic migraine 1	FHM1; familial hemiplegic migraine1 with progressi.. [+] FHM1; familial hemiplegic migraine1 with progressive cerebellar ataxia; MHP1 [-]	A familial hemiplegic migraine that is commonly as..[+] A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. [-]
familial hemiplegic migraine 2	FHM2; Familial hemiplegic migraine-2; MHP2	A familial hemiplegic migraine that has_material_b..[+] A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. [-]
familial hemiplegic migraine 3	FHM3; MHP3	A familial hemiplegic migraine that has_material_b..[+] A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. [-]
facioscapulohumeral muscular dystrophy 1	FSHD1; facioscapulohumeral muscular dystrophy type.. [+] FSHD1; facioscapulohumeral muscular dystrophy type 1A; facioscapulohumeral muscular dystrophy type 1 [-]	A facioscapulohumeral muscular dystrophy that has_..[+] A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. [-]
facioscapulohumeral muscular dystrophy 2	FSHD2; facioscapulohumeral muscular dystrophy type.. [+] FSHD2; facioscapulohumeral muscular dystrophy type 2; facioscapulohumeral muscular dystrophy 1B [-]	A facioscapulohumeral muscular dystrophy that has_..[+] A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. [-]
Friedreich ataxia 1	FRDA1; FA1	A Friedreich ataxia that has_material_basis_in hom..[+] A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. [-]
Friedreich ataxia 2	FRDA2	A Friedreich ataxia that has_material_basis_in mut..[+] A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis 7	FTD3; FRONTOTEMPORAL DEMENTIA; FTDALS7; amyotrophi.. [+] FTDALS7; FRONTOTEMPORAL DEMENTIA; FTD3; amyotrophic lateral sclerosis type 17; CHMP2B-related frontotemporal dementia; ALS17 (FORMERLY); AMYOTROPHIC LATERAL SCLEROSIS; AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY); CHMP2B-RELATED; chromosome 3-linked frontotemporal dementia [-]	A frontotemporal dementia and/or amyotrophic later..[+] A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. [-]
fumarase deficiency	fumaric aciduria; FMRD	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. [-]
familial febrile seizures	FEB; familial febrile convulsions	A brain disease characterized by seizures during c..[+] A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. [-]
familial febrile seizures 8	FEB8; familial febrile convulsions 8	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. [-]
familial febrile seizures 9	FEB9; familial febrile convulsions 9	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. [-]
familial febrile seizures 10	FEB10; familial febrile convulsions 10	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. [-]
familial febrile seizures 4	FEB4; familial febrile convulsions 4	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. [-]
familial febrile seizures 5	FEB5; familial febrile convulsions 5	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. [-]
familial febrile seizures 1	FEB1; familial febrile convulsions 1	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. [-]
familial febrile seizures 11	FEB11; familial febrile convulsions 11	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. [-]
familial febrile seizures 6	FEB6; familial febrile convulsions 6	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. [-]
familial febrile seizures 2	FEB2; familial febrile convulsions 2	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. [-]
familial febrile seizures 7	FEB7; familial febrile convulsions 7	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in heterozygous mutation. [-]
Floating-Harbor syndrome	FLHS	A syndrome characterized by growth retardation, pr..[+] A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. [-]
familial hepatic adenoma	familial liver cell adenomas	A hepatocellular adenoma characterized by highly v..[+] A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. [-]
familial progressive hyperpigmentation with or without hypopigmentation	FPHH; melanosis universalis hereditaria; MUH	A skin disease characterized by progressive, diffu..[+] A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. [-]
fetal akinesia deformation sequence syndrome	foetal akinesia sequence; foetal akinesia deformat.. [+] foetal akinesia sequence; foetal akinesia deformation sequence syndrome; fetal akinesia sequence; FADS; arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; Pena-Shokeir syndrome type 1 [-]	A syndrome characterized by decreased fetal moveme..[+] A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. [-]
fetal akinesia deformation sequence syndrome 3	FADS3	A fetal akinesia deformation sequence that has_mat..[+] A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. [-]
fetal akinesia deformation sequence syndrome 1	FADS1	A fetal akinesia deformation sequence that has_mat..[+] A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. [-]
fetal akinesia deformation sequence syndrome 2	FADS2	A fetal akinesia deformation sequence that has_mat..[+] A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. [-]
fetal akinesia deformation sequence syndrome 4	FADS4	A fetal akinesia deformation sequence that has_mat..[+] A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. [-]
familial isolated hypoparathyroidism	FIH	A hypoparathyroidism that has_material_basis_in mu..[+] A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. [-]
Fraser syndrome 1	FRASRS1	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. [-]
Fraser syndrome 3	FRASRS3	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. [-]
Fraser syndrome 2	FRASRS2	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. [-]
familial chylomicronemia syndrome		A familial hyperlipidemia characterized by hypertr..[+] A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. [-]
familial apolipoprotein C-II deficiency	familial apoC-II deficiency; familial APOC2 defici.. [+] familial apoC-II deficiency; familial APOC2 deficiency; C-II anapolipoproteinemia; hyperlipoproteinemia, type 1b; hyperlipoproteinemia, type Ib [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. [-]

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