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Disease	Synonyms	Description	Articles
Fanconi anemia	Fanconi panmyelopathy; Fanconi pancytopenia; Fanco.. [+] Fanconi panmyelopathy; Fanconi pancytopenia; Fanconi anaemia; Fanconi's anaemia; Fanconi's anemia; [-]	A congenital hypoplastic anemia characterized by p..[+] A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. [-]	13 articles
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 B	FA2; FACB; Fanconi pancytopenia type 2; FANCB;	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. [-]
Fanconi anemia complementation group C	FACC; FANCC; Fanconi pancytopenia type 3; FA3;	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 D1	FAD1; FANCD1;	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 D2	FA4; FANCD2; Fanconi pancytopenia type 4; FAD2;	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	FACE; FANCE;	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 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 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 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 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 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 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 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 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 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 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 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 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 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. [-]
Fanconi syndrome	adult Fanconi syndrome; De Toni-Fanconi syndrome; .. [+] adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia; [-]	A renal tubular transport disease of the proximal ..[+] A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. [-]	2 articles
Fanconi-like syndrome		A syndrome characterized by pancytopenia, immune d..[+] A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [-]	1 articles
Far Eastern spotted fever	Rickettsia heilongjiangensis spotted fever;	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. [-]
Farber lipogranulomatosis	Acid Ceramidase Deficiency; Farber Disease; N-LAUR.. [+] Acid Ceramidase Deficiency; Farber Disease; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY; acid ceramidase deficiency; Farber disease; N-laurylsphingosine deacylase deficiency; [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. [-]
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. [-]
Feingold syndrome	digital anomalies with short palpebral fissures an.. [+] digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; oculo-digito-esophageal-duodenal syndrome; ODED syndrome; microcephaly-digital anomalies-normal intelligence syndrome; [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
Felty's syndrome	Felty syndrome; Rheumatoid arthritis with splenoad.. [+] Felty syndrome; Rheumatoid arthritis with splenoadenomegaly and leukopenia; [-]	A syndrome that results_in rheumatoid arthritis, s..[+] A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. [-]
Ferguson-Smith tumor	Multiple self-healing epithelioma of Ferguson-Smit.. [+] Multiple self-healing epithelioma of Ferguson-Smith (disorder); Multiple self-healing epithelioma of Ferguson-Smith; [-]	n_a
Filippi syndrome	Scott craniodigital syndrome with mental retardati.. [+] Scott craniodigital syndrome with mental retardation; type 1 syndactyly-microcephaly-intellectual disability syndrome; [-]	A syndrome characterized by short stature, microce..[+] A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. [-]
Finnish type amyloidosis	AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gels.. [+] AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gelsolin amyloidosis; Lattice corneal dystrophy type II; [-]	An amyloidosis that is characterized by abnormal d..[+] An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. [-]
Fleck corneal dystrophy	Francois-Neetens speckled corneal dystrophy; FCD;	A stromal dystrophy that is characterized by numer..[+] A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. [-]
Flinders Island spotted fever	FISF; Thai tick typhus;	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. [-]
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. [-]
Foster-Kennedy syndrome		n_a
Fox-Fordyce disease	Fox Fordyce disease;	A sweat gland disease that is characterized by dil..[+] A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. [-]
Frank-Ter Haar syndrome	autosomal recessive Melnick-Needles syndrome; Borr.. [+] autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay; Ter Haar syndrome; [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. [-]
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. [-]
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 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. [-]
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. [-]
Frasier syndrome		A syndrome that is characterized by gonadal dysgen..[+] A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. [-]
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. [-]
French Canadian Leigh disease	French Canadian type COX deficiency; French Canadi.. [+] French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; 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. [-]
Frey syndrome	Baillarger syndrome; gustatory hyperhidrosis (diso.. [+] Baillarger syndrome; gustatory hyperhidrosis (disorder); gustatory sweating; gustatory hyperhidrosis; [-]	An autonomic nervous system disease that is charac..[+] An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. [-]
Friedreich ataxia	Friedreich ataxia 1; Friedreich's ataxia; Friedrei.. [+] Friedreich ataxia 1; Friedreich's ataxia; Friedreich's tabes; [-]	n_a
Friedreich ataxia 1	FA1; FRDA1;	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. [-]

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