Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 ???pagination.result.next???

Disease	Synonyms	Description	Articles
familial glomangioma		n_a
familial glucocorticoid deficiency		An adrenal cortex disease that is characterized by..[+] An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. [-]
familial hemiplegic migraine		A migraine with aura that is characterized by temp..[+] A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. [-]	4 articles
familial hemiplegic migraine 1	familial hemiplegic migraine1 with progressive cer.. [+] familial hemiplegic migraine1 with progressive cerebellar ataxia; FHM1; 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	Familial hemiplegic migraine-2; FHM2; 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. [-]
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	HLH4; HPLH4; FHL4;	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 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 hypercholesterolemia	familial hyperbetalipoproteinaemia; Fredrickson ty.. [+] familial hyperbetalipoproteinaemia; Fredrickson type IIa lipidaemia; hyperbetalipoproteinemia; familial hypercholesteremia; Fredrickson type IIa hyperlipoproteinemia; type II hyperlipidemia; [-]	A familial hyperlipidemia characterized by very hi..[+] A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. [-]	1 articles
familial hyperinsulinemic hypoglycemia 1	HHF1;	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. [-]
familial hyperinsulinemic hypoglycemia 2	Autosomal recessive hyperinsulinemic hypoglycemia .. [+] Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; HHF2; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. [-]
familial hyperinsulinemic hypoglycemia 3	HHF3; hyperinsulinemic hypoglycemia due to glucoki.. [+] HHF3; hyperinsulinemic hypoglycemia due to glucokinase deficiency; hyperinsulinism due to glucokinase deficiency; [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. [-]
familial hyperinsulinemic hypoglycemia 4	HHF4; hyperinsulinism due to glutamodehydrogenase .. [+] HHF4; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinism due to SCHAD deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. [-]
familial hyperinsulinemic hypoglycemia 5	HHF5; hyperinsulinemic hypoglycemia due to INSR de.. [+] HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinism due to INSR deficiency; [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. [-]
familial hyperinsulinemic hypoglycemia 6	HHF6; HI/HA syndrome; hyperinsulinism-hyperammonem.. [+] HHF6; HI/HA syndrome; hyperinsulinism-hyperammonemia syndrome; [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. [-]
familial hyperinsulinemic hypoglycemia 7	EIHI; exercise-induced hyperinsulinism; hyperinsul.. [+] EIHI; exercise-induced hyperinsulinism; hyperinsulinism due to monocarboxylate transporter 1 deficiency; HHF7; exercise-induced hyperinsulinemic hypoglycemia; hyperinsulinism due to SLC16A1 deficiency; [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. [-]
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 hyperlipidemia	hyperlipemia; hyperlipidaemia; familial hyperlipop.. [+] hyperlipemia; hyperlipidaemia; familial hyperlipoproteinemia; [-]	n_a	1 articles
familial hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy that is characterize..[+] A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. [-]
familial hypertryptophanemia	HYPTRP;	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. [-]
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. [-]
familial hypobetalipoproteinemia 2	combined familial hypolipidemia; FHBL2;	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 hypocalciuric hypercalcemia	familial benign hypocalciuric hypercalcemia; FBH; .. [+] familial benign hypocalciuric hypercalcemia; FBH; FBHH; FHH; familial benign hypercalcemia; [-]	A hypercalcemia characterized by autosomal dominan..[+] A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. [-]	1 articles
familial hypocalciuric hypercalcemia 1	familial hypocalciuric hypercalcemia type I; FHH t.. [+] familial hypocalciuric hypercalcemia type I; FHH type 1; HHC1; hypocalciuric hypercalcemia type I; familial benign hypercalcemia 1; [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. [-]
familial hypocalciuric hypercalcemia 2	FHH type 2; HHC2; familial hypocalciuric hypercalc.. [+] FHH type 2; HHC2; familial hypocalciuric hypercalcemia type 2; hypocalciuric hypercalcemia type II; [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
familial hypocalciuric hypercalcemia 3	familial hypocalciuric hypercalcemia type 3; FHH t.. [+] familial hypocalciuric hypercalcemia type 3; FHH type 3; HHC3; hypocalciuric hypercalcemia type III; [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. [-]
familial isolated deficiency of vitamin E	ataxia with isolated vitamin E deficiency; familia.. [+] ataxia with isolated vitamin E deficiency; familial 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 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. [-]
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 compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. [-]
familial juvenile hyperuricemic nephropathy		A kidney disease that is characterized by hyperuri..[+] A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. [-]	1 articles
familial lipase maturation factor 1 deficiency	combined lipase deficiency; familial LMF1 deficien.. [+] combined lipase deficiency; familial LMF1 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 lipoprotein lipase deficiency	familial hyperchylomicronemia (disorder); familial.. [+] familial hyperchylomicronemia (disorder); familial hyperlipoproteinemia type I; familial lipoprotein lipase deficiency (disorder) [Ambiguous]; familial lipoprotein lipase deficiency with type I phenotype; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; familial chylomiconemia syndrome; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; familial chylomicronemia syndrome; mixed hyperglyceridemia; [-]	A familial hyperlipemia characterized by a deficie..[+] A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. [-]
familial male-limited precocious puberty	FMPP; male-limited precocious puberty; testotoxico.. [+] FMPP; male-limited precocious puberty; testotoxicosis; familial gonadotropin-independent male-limited sexual precocity; [-]	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 medullary thyroid carcinoma	THYROID CARCINOMA, FAMILIAL MEDULLARY;	A thyroid gland medullary carcinoma that has_mater..[+] A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. [-]
familial melanoma		n_a
familial meningioma		n_a
familial multiple lipomatosis		A lipomatosis characterized by the development of ..[+] A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. [-]
familial multiple nevi flammei	CMC; congenital capillary malformations; familial .. [+] CMC; congenital capillary malformations; familial multiple port-wine stains; [-]	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 nephrotic syndrome	Congenital Nephrotic syndrome; Congenital nephroti.. [+] Congenital Nephrotic syndrome; Congenital nephrotic syndrome; [-]	A nephrotic syndrome that has_material_basis_in ge..[+] A nephrotic syndrome that has_material_basis_in genetic mutations. [-]	1 articles
familial partial lipodystrophy	Koberling-Dunnigan Syndrome; Dunnigan Syndrome;	A partial lipodystrophy characterized by abnormal ..[+] A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. [-]
familial partial lipodystrophy type 1	familial partial lipodystrophy Kobberling type; FP.. [+] familial partial lipodystrophy Kobberling type; FPLD1; [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. [-]
familial partial lipodystrophy type 2	familial lipodystrophy of limbs and lower trunk; f.. [+] familial lipodystrophy of limbs and lower trunk; familial partial lipodystrophy Dunnigan type; FPLD2; reverse partial lipodystrophy; [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
familial partial lipodystrophy type 3	familial partial lipodystrophy associated with PPA.. [+] familial partial lipodystrophy associated with PPARG mutations; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD; [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. [-]
familial partial lipodystrophy type 4	familial partial lipodystrophy associated with PLI.. [+] familial partial lipodystrophy associated with PLIN1 mutations; FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD; [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. [-]
familial partial lipodystrophy type 5	CIDEC-related FPLD; familial partial lipodystrophy.. [+] CIDEC-related FPLD; familial partial lipodystrophy associated with CIDEC mutations; FPLD5; [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. [-]
familial partial lipodystrophy type 6	familial partial lipodystrophy associated with LIP.. [+] familial partial lipodystrophy associated with LIPE mutations; FPLD6; LIPE-related familial partial lipodystrophy; LIPE-related FPLD; [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. [-]

???pagination.result.page??? ???pagination.result.prev??? 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 ???pagination.result.next???