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Disease	Synonyms	Description	Articles
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 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 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 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 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 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. [-]
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. [-]
familial GPIHBP1 deficiency	familial glycosylphosphatidylinositol-anchored hig.. [+] familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency; hyperlipoproteinemia type 1D; hyperlipoproteinemia type ID [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. [-]
familial apolipoprotein A5 deficiency	familial apolipoprotein A-V deficiency; familial A.. [+] familial apolipoprotein A-V deficiency; familial APOA5 deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. [-]
familial lipase maturation factor 1 deficiency	familial LMF1 deficiency; combined lipase deficien.. [+] familial LMF1 deficiency; combined lipase deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; LPL and HTGL deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
familial multiple nevi flammei	familial multiple port-wine stains; CMC; congenita.. [+] familial multiple port-wine stains; CMC; congenital capillary malformations [-]	A capillary disease characterized by dark red to p..[+] A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. [-]
familial expansile osteolysis	FEO; McCabe disease; hereditary expansile polyosto.. [+] FEO; McCabe disease; hereditary expansile polyostotic osteolytic dysplasia [-]	A bone remodeling disease characterized by increas..[+] A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. [-]
familial male-limited precocious puberty	familial gonadotropin-independent male-limited sex.. [+] familial gonadotropin-independent male-limited sexual precocity; FMPP; male-limited precocious puberty; testotoxicosis [-]	An endocrine system disease characterized by onset..[+] An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. [-]
familial isolated trichomegaly	long eyelashes; TCMGLY	An eyelid disease characterized by prolonged anage..[+] An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in the FGF5 gene on chromosome 4q21.21. [-]
familial woolly hair syndrome	familial wooly hair syndrome; hereditary woolly ha.. [+] familial wooly hair syndrome; hereditary woolly hair syndrome; hereditary wooly hair syndrome; woolly hair; wooly hair [-]	A hair disease characterized by fine and tightly c..[+] A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. [-]
Freeman-Sheldon syndrome	craniocarpotarsal dysplasia; whistling face syndro.. [+] craniocarpotarsal dysplasia; whistling face syndrome; whistling face-windmill vane hand syndrome; craniocarpotarsal dystrophy [-]	A distal arthrogryposis characterized by microstom..[+] A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. [-]
familial erythrocytosis 8	bisphosphoglycerate mutase deficiency; bisphosphog.. [+] bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; ECYT8; DPGM deficiency; hemolytic anemia due to diphosphoglycerate mutase deficiency [-]	A primary polycythemia characterized by erythrocyt..[+] A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. [-]
familial erythrocytosis 7	alpha-globin type polycythemia; ECYT7; alpha-globi.. [+] alpha-globin type polycythemia; ECYT7; alpha-globin type erythrocytosis [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. [-]
familial erythrocytosis 6	beta-globin type polycythemia; ECYT6; beta-globin .. [+] beta-globin type polycythemia; ECYT6; beta-globin type erythrocytosis [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. [-]

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