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Disease	Synonyms	Description
Fanconi anemia	Fanconi pancytopenia; Fanconi panmyelopathy; Fanco.. [+] Fanconi pancytopenia; Fanconi panmyelopathy; 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. [-]
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. [-]
Fanconi anemia complementation group B	FA2; FACB; FANCB; Fanconi pancytopenia type 2;	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	FA3; FACC; FANCC; Fanconi pancytopenia type 3;	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; FAD2; FANCD2; Fanconi pancytopenia type 4;	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. [-]
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. [-]
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 syndrome	adult Fanconi Anemia; adult Fanconi syndrome; Cong.. [+] adult Fanconi Anemia; adult Fanconi syndrome; Congenital Fanconi syndrome (disorder); De Toni-Fanconi syndrome; deToni Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; [-]	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. [-]
Fanconi-like syndrome		A syndrome characterized by pancytopenia, immune d..[+] A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [-]
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; [-]	n_a
Feingold syndrome	digital anomalies with short palpebral fissures an.. [+] digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-digital anomalies-normal intelligence syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; oculo-digito-esophageal-duodenal syndrome; ODED syndrome; [-]	An autosomal dominant disease characterized by var..[+] An autosomal dominant disease 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); [-]	n_a
Finnish type amyloidosis	AMYLOIDOSIS, MERETOJA TYPE;	n_a
Fleck corneal dystrophy	FCD; Francois-Neetens speckled corneal dystrophy;	n_a
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. [-]
Foster-Kennedy syndrome		n_a
Fox-Fordyce disease	Fox Fordyce disease;	n_a
Fraser syndrome	cryptophthalmos with other malformations;	An autosomal recessive disease characterized by cr..[+] An autosomal recessive disease 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. [-]
Frasier syndrome		n_a
Frey syndrome	Baillarger syndrome; gustatory hyperhidrosis (diso.. [+] Baillarger syndrome; gustatory hyperhidrosis (disorder); gustatory sweating; [-]	n_a
Friedreich ataxia	Friedreich ataxia 1; Friedreich's ataxia; Friedrei.. [+] Friedreich ataxia 1; Friedreich's ataxia; Friedreich's tabes; [-]	n_a
Froelich syndrome	adiposogenital syndrome; Babinski-Froelich syndrom.. [+] adiposogenital syndrome; Babinski-Froelich syndrome; Froehlich syndrome; Froehlich's syndrome; Froelich's syndrome; [-]	A hypothalamic disease that is characterized by en..[+] A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. [-]
Fuchs' endothelial dystrophy	FCED; Fuchs' corneal dystrophy; Fuchs' endothelial.. [+] FCED; Fuchs' corneal dystrophy; Fuchs' endothelial corneal dystrophy; [-]	A corneal dystrophy characterized by accumulation ..[+] A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. [-]
Fuchs' heterochromic uveitis	Fuch's Heterochromic iridocyclitis; Fuchs uveitis .. [+] Fuch's Heterochromic iridocyclitis; Fuchs uveitis syndrome; Fuchs' heterochromic cyclitis; [-]	A syndrome that is a chronic unilateral (or rarely..[+] A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. [-]
Fuhrmann syndrome		A bone development disease characterized by autoso..[+] A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25. [-]
Fukuyama congenital muscular dystrophy		n_a
GABA aminotransferase deficiency	Gamma-amino butyric acid transaminase deficiency; .. [+] Gamma-amino butyric acid transaminase deficiency; gamma-aminobutyric acid transaminase deficiency; [-]	A gamma-amino butyric acid metabolism disorder tha..[+] A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. [-]
GRID2-related spinocerebellar ataxia		n_a
Galloway-Mowat syndrome	Galloway syndrome; microcephaly, hiatal hernia and.. [+] Galloway syndrome; microcephaly, hiatal hernia and nephrotic syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; [-]	An autosomal recessive disease characterized_by is..[+] An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. [-]
Gamstorp-Wohlfart syndrome	autosomal recessive neuromyotonia and axonal neuro.. [+] autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting; [-]	A syndrome characterized by progressive weakness a..[+] A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [-]
Gasserian ganglion meningioma	meningioma of Gasserian Ganglion;	n_a
Gaucher's disease	acid beta-glucosidase deficiency; Gaucher disease;.. [+] acid beta-glucosidase deficiency; Gaucher disease; glocucerebrosidase deficiency; glucosylceramide beta-glucosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); [-]	A sphingolipidosis characterized by deficiency of ..[+] A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. [-]
Gaucher's disease perinatal lethal	Fetal Gaucher Disease; Gaucher Disease, Collodion .. [+] Fetal Gaucher Disease; Gaucher Disease, Collodion Type; [-]	A Gaucher's Disease characterized by perinatal let..[+] A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. [-]
Gaucher's disease type I	Acid Beta-Glucosidase Deficiency; Gaucher Disease,.. [+] Acid Beta-Glucosidase Deficiency; Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD I; Glucocerebrosidase Deficiency; [-]	A Gaucher's disease characterized by absence of pr..[+] A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22. [-]
Gaucher's disease type II	Gaucher Disease, Acute Neuronopathic Type; GD II; .. [+] Gaucher Disease, Acute Neuronopathic Type; GD II; Infantile Cerebral Gaucher Disease; [-]	A Gaucher's disease characterized by rapid neurolo..[+] A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. [-]

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