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Disease	Synonyms	Description	Articles
Fazio-Londe disease	riboflavin transporter deficiency neuronopathy	A progressive bulbar palsy that is characterized b..[+] A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. [-]
fibrochondrogenesis 1		A fibrochondrogenesis that is characterized by a f..[+] A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. [-]
fibrochondrogenesis 2		A fibrochondrogenesis that has_material_basis_in h..[+] A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. [-]
Fanconi renotubular syndrome 1		A Fanconi syndrome that has_material_basis_in hete..[+] A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. [-]
Fanconi renotubular syndrome 2		A Fanconi syndrome that has_material_basis_in homo..[+] A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. [-]
Fanconi renotubular syndrome 4		A Fanconi syndrome that has_material_basis_in hete..[+] A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. [-]
familial Behcet-like autoinflammatory syndrome	A20 haploinsufficiency	A primary immunodeficiency disease that is charact..[+] A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. [-]
fetal akinesia deformation sequence syndrome X-linked		A fetal akinesia deformation sequence syndrom that..[+] A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. [-]
frontonasal dysplasia		A syndrome that is a cleft in thes nose, a broad n..[+] A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. [-]
frontonasal dysplasia 1	Frontorhiny	A frontonasal dysplasia that is characterized by h..[+] A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. [-]
frontonasal dysplasia 2		A frontonasal dysplasia that has_material_basis_in..[+] A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. [-]
frontonasal dysplasia 3		A frontonasal dysplasia that has_material_basis_in..[+] A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. [-]
familial gestational hyperthyroidism		A hyperthyroidism that is characterized by promisc..[+] A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. [-]
familial hyperinsulinemic hypoglycemia 8		A hyperinsulinemic hypoglycemia characterized by p..[+] A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. [-]
familial focal epilepsy with variable foci	DEPDC5-related epilepsy	A focal epilepsy that is characterized by focal se..[+] A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. [-]
familial focal epilepsy with variable foci 1		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. [-]
familial focal epilepsy with variable foci 2		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. [-]
familial focal epilepsy with variable foci 3		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. [-]
familial focal epilepsy with variable foci 4		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. [-]
Fraser syndrome	cryptophthalmos with other malformations	A syndrome characterized by cryptophthalmos, synda..[+] A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. [-]
familial isolated deficiency of vitamin E	familial isolated vitamin E deficiency; ataxia wit.. [+] familial isolated vitamin E deficiency; ataxia with isolated vitamin E deficiency [-]	A vitamin metabolic disorder characterized by prog..[+] A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. [-]
familial cold autoinflammatory syndrome	FCAS	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. [-]
familial cold autoinflammatory syndrome 1		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. [-]
familial cold autoinflammatory syndrome 2	NLRP12-associated hereditary periodic fever syndro.. [+] NLRP12-associated hereditary periodic fever syndrome [-]	A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. [-]
familial cold autoinflammatory syndrome 3		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. [-]
familial cold autoinflammatory syndrome 4		A familial cold autoinflammatory syndrome that is ..[+] A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. [-]
Fanconi-like syndrome		A syndrome characterized by pancytopenia, immune d..[+] A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [-]	1 articles
Fuhrmann syndrome		A bone development disease that is characterized b..[+] A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	FTDALS3; frontotemporal dementia and/or amyotrophi.. [+] FTDALS3; frontotemporal dementia and/or amyotrophic lateral sclerosis 3 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis 4	FTDALS4; frontotemporal dementia and/or amyotrophi.. [+] FTDALS4; frontotemporal dementia and/or amyotrophic lateral sclerosis 4 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. [-]
familial hemophagocytic lymphohistiocytosis 1	FHL1; HLH1; HPLH1	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. [-]
familial hemophagocytic lymphohistiocytosis 2	FHL2; HLH2; HPLH2	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. [-]
familial hemophagocytic lymphohistiocytosis 3	FHL3; HPLH3; HLH3	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. [-]
familial hemophagocytic lymphohistiocytosis 4	FHL4; HLH4; HPLH4	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. [-]
familial hemophagocytic lymphohistiocytosis 5	FHL5; HPLH5; HLH5	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. [-]
familial hypobetalipoproteinemia 2	FHBL2; combined familial hypolipidemia	A hypobetalipoproteinemia that has_material_basis_..[+] A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. [-]
familial hypobetalipoproteinemia 1	FHBL1	A hypobetalipoproteinemia that has_material_basis_..[+] A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. [-]
Fanconi anemia complementation group V	FANCV	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. [-]
Fanconi anemia complementation group T	FANCT	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. [-]
Fanconi anemia complementation group L	FANCL	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. [-]
Fanconi anemia complementation group D2	FAD2; Fanconi pancytopenia type 4; FANCD2; FA4	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. [-]
Fanconi anemia complementation group E	FANCE; FACE	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. [-]
Fanconi anemia complementation group U	FANCU	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. [-]
Fanconi anemia complementation group G	FANCG	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. [-]
Fanconi anemia complementation group C	FA3; Fanconi pancytopenia type 3; FANCC; FACC	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. [-]
Fanconi anemia complementation group F	FANCF	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. [-]
Fanconi anemia complementation group D1	FANCD1; FAD1	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. [-]
Fanconi anemia complementation group R	FANCR	A Fanconi anemia that has_material_basis_in hetero..[+] A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. [-]	1 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. [-]

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