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Fabry DiseaseA genetic disorder where fatty substances build up in cells.Facial Nerve DiseaseA cranial nerve disease that is in the facial nerve (seventh cranial nerve.Facioscapulohumeral Muscular Dystrophy 1A facioscapulohumeral muscular dystrophy that is caused by contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.Facioscapulohumeral Muscular Dystrophy 2A facioscapulohumeral muscular dystrophy that is caused by 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.Facioscapulohumeral Muscular Dystrophy 3A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that is caused by the combination of a homozygous mu Facioscapulohumeral Muscular Dystrophy 4A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that is caused by the combination of a heterozygous mu Factitious DisorderA disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.Factor VII DeficiencyA blood coagulation disease that is characterized by easy bleeding, causes epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and is caused by autosomal recessive inheritance of mutation in the Factor VIII DeficiencyA hemophilia that is caused by Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.Factor V LeidenA genetic mutation that increases the risk of blood clots.Factor X DeficiencyA blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.Factor XI DeficiencyA hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and is caused by homozygous, compound heterozygous, or heterozygous Factor XII DeficiencyA blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and is caused by a mutation in the F12 gene on chromosome 5q33.Factor XIII DeficiencyA blood coagulation disease that is characterized by easy bleeding, causes prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healin Fallopian Tube AdenocarcinomaA fallopian tube carcinoma that arises from epithelial cells of glandular origin.Fallopian Tube AdenofibromaA fallopian tube benign neoplasm that is is caused by glandular and fibrous tissues, with a relatively large proportion of glands.Fallopian Tube Adenomatoid TumorA fallopian tube benign neoplasm that arises from mesothelium.Fallopian Tube AdenosarcomaA fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and is caused by epithelial tissue and is caused by connective tissue.Fallopian Tube Benign NeoplasmA female reproductive organ benign neoplasm that is in the fallopian tube.Fallopian Tube CancerA rare cancer of the fallopian tubes.Fallopian Tube CarcinomaA fallopian tube cancer that is in the fallopian tube.Fallopian Tube CarcinosarcomaA fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and is caused by epithelial tissue and is caused by connective tissue.Fallopian Tube Clear Cell AdenocarcinomaA fallopian tube adenocarcinoma that arises from epithelial cells which have clear cytoplasm.Fallopian Tube CystadenofibromaA fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces.Fallopian Tube DiseaseA female reproductive system disease that is in the fallopian tube.Fallopian Tube Endometrioid AdenocarcinomaA fallopian tube adenocarcinoma that arises from endometrial epithelial cells of glandular origin.Fallopian Tube EndometriosisA female reproductive system disease characterized by the growth of endometrial tissue that is in the fallopian tube.Fallopian Tube Germ Cell CancerA fallopian tube cancer that arises from germ cells.Fallopian Tube Gestational ChoriocarcinomaA gestational choriocarcinoma that is in the fallopian tube.Fallopian Tube LeiomyomaA fallopian tube benign neoplasm that is caused by smooth muscle cells.Fallopian Tube LeiomyosarcomaA fallopian tube cancer that dervies from smooth muscle cells.Fallopian Tube Mucinous AdenocarcinomaA fallopian tube adenocarcinoma that arises from epithelial cells originating in glandular tissue, which produce mucin.Fallopian Tube Mucinous TumorA fallopian tube benign neoplasm that produces mucin.Fallopian Tube Papillary AdenocarcinomaA fallopian tube adenocarcinoma that is characterized by a papillary growth pattern.Fallopian Tube Serous AdenocarcinomaA fallopian tube adenocarcinoma that arises from epithelial cells originating in glandular tissue forming serous lesions.Fallopian Tube Serous PapillomaA fallopian tube benign neoplasm that is caused by the serosa and is characterized by exophytic growth.Fallopian Tube Squamous Cell CarcinomaA fallopian tube carcinoma that arises from squamous epithelial cells.Fallopian Tube TeratomaA fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.Fallopian Tube Transitional Cell CarcinomaA fallopian tube carcinoma that arises from epithelial transitional cells.Familial Adenomatous PolyposisAn intestinal disease that is characterized by predisposition to colon cancer.Familial Adenomatous Polyposis 1A familial adenomatous polyposis that is characterized by predisposition to cancer and that is caused by heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousand Familial Adenomatous Polyposis 2A familial adenomatous polyposis that is caused by homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.Familial Adenomatous Polyposis 3A familial adenomatous polyposis that is caused by homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.Familial Adenomatous Polyposis 4A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that is caused by compound heterozygous mutation in the MSH3 ge Familial Adult Myoclonic EpilepsyAn adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.Familial Adult Myoclonic Epilepsy 1A familial adult myoclonic epilepsy that is caused by a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.Familial Adult Myoclonic Epilepsy 2A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-cl Familial Adult Myoclonic Epilepsy 3A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that is caused by a heterozygous 5-bp repeat expansion in the MARCHF6 gen Familial Adult Myoclonic Epilepsy 4A familial adult myoclonic epilepsy that is caused by heterozygous mutation in the YEATS2 gene on chromosome 3q27.1.Familial Adult Myoclonic Epilepsy 5A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that is caused by homozygous or compound heterozygous mutation in the CNTN2 Familial Adult Myoclonic Epilepsy 6A familial adult myoclonic epilepsy that is caused by a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.Familial Adult Myoclonic Epilepsy 7A familial adult myoclonic epilepsy that is caused by a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.Familial Apolipoprotein A5 DeficiencyA familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that is caused by heterozygous mutation in the AP Familial Apolipoprotein C-II DeficiencyA familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that is caused by homozygous or compound heterozygous mutation in the APOC2 gene Familial Atrial FibrillationAn atrial fibrillation that is caused by autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.Familial Behcet-Like Autoinflammatory SyndromeAn autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that is caused by heterozygous mutation in the TNFAIP3 gene on chromoso Familial Benign Fleck RetinaA retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that is caused by Familial Chronic Myelocytic Leukemia-Like SyndromeA chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).Familial Chylomicronemia Due to Inhibition of Lipoprotein Lipase ActivityA familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and ele Familial Chylomicronemia SyndromeA familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.Familial Cold Autoinflammatory SyndromeAn autoinflammatory disease that is 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 1A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that is caused by heterozygous mutation in the NLRP gene on chromosome 1q44.Familial Cold Autoinflammatory Syndrome 2A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13.Familial Cold Autoinflammatory Syndrome 3A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 is caused by heterozygous de Familial Cold Autoinflammatory Syndrome 4A 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 is caused by autosomal d Familial DysautonomiaA hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profoun Familial Encephalopathy with Neuroserpin Inclusion BodiesA neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and is caused by a mutation in the SERPINI1 gene inherite Familial Episodic Pain SyndromeA peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fastin Familial Episodic Pain Syndrome 1A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that is caused by heterozygous mutation in the TRPA1 gene on ch Familial Episodic Pain Syndrome 2A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that is caused by heterozygous mutation in the SCN10A gene on chromosome 3p22.Familial Episodic Pain Syndrome 3A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several Familial Erythrocytosis 1A primary polycythemia that is caused by mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid p Familial Erythrocytosis 2A primary polycythemia that is caused by homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.Familial Erythrocytosis 3A primary polycythemia that is caused by heterozygous mutation in the EGLN1 gene on chromosome 1q42.Familial Erythrocytosis 4A primary polycythemia that is caused by autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.Familial Erythrocytosis 5A primary polycythemia characterized by autosomal dominant inheritance that is caused by heterozygous mutation in the EPO gene on chromosome 7q21.Familial Erythrocytosis 6A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that is caused by heterozygous mutation in HBB on chromosome 11p15.4.Familial Erythrocytosis 7A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that is caused by heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.Familial Erythrocytosis 8A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.Familial Expansile OsteolysisA 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 Familial Febrile SeizuresA brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.Familial Febrile Seizures 1A familial febrile seizures that is caused by variation in a region on chromosome 8q13-q21.Familial Febrile Seizures 10A familial febrile seizures that is caused by variation in a region on chromosome 3q26.2-q26.33.Familial Febrile Seizures 11A familial febrile seizures that is caused by homozygous mutation in the CPA6 gene on chromosome 8p13.2.Familial Febrile Seizures 2A familial febrile seizures that is caused by variation in a region on chromosome 19p13.3.Familial Febrile Seizures 4A familial febrile seizures that is caused by heterozygous mutation the ADGRV1 gene on chromosome 5q14.3.Familial Febrile Seizures 5A familial febrile seizures that is caused by variation in a region on chromosome 6q22-q24.Familial Febrile Seizures 6A familial febrile seizures that is caused by variation in a region on chromosome 18p11.2.Familial Febrile Seizures 7A familial febrile seizures that is caused by heterozygous mutation.Familial Febrile Seizures 8A familial febrile seizures that is caused by heterozygous mutation in the GABRG2 gene on chromosome 5q34.Familial Febrile Seizures 9A familial febrile seizures that is caused by variation in a region on chromosome 3p24.2-p23.Familial Focal Epilepsy with Variable FociA 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 cort Familial Focal Epilepsy with Variable Foci 1A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that is caused by heterozygous mutation in the DEPDC5 gene on c Familial Focal Epilepsy with Variable Foci 2A familial focal epilepsy with variable foci that is caused by heterozygous mutation in the NPRL2 gene on chromosome 3p21.Familial Focal Epilepsy with Variable Foci 3A familial focal epilepsy with variable foci that is caused by heterozygous mutation in the NPRL3 gene on chromosome 16p13.Familial Focal Epilepsy with Variable Foci 4A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that is caused by heterozygous mutation in the SCN3A gene on chromosome 2q24.Familial Gestational HyperthyroidismA hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that is caused by heterozygous mutation in the gene encoding the thyroid-stimulating Familial Glucocorticoid DeficiencyAn adrenal cortex disease that is characterized by insufficient production of glucocorticoids.Familial GPIHBP1 DeficiencyA familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that is caused by homozygous or compound heterozygous mutation in the GPIHBP1 gene on c Familial Hemiplegic MigraineA 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 drowsine Familial Hemiplegic Migraine 1A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and is caused by heterozygous mutation in CACNA1A on 19p13.Familial Hemiplegic Migraine 2A familial hemiplegic migraine that is caused by heterozygous mutation in ATP1A2 on 1q23.2.Familial Hemiplegic Migraine 3A familial hemiplegic migraine that is caused by heterozygous mutation in SCN1A on 2q24.3.Familial Hemophagocytic Lymphohistiocytosis 1A hemophagocytic lymphohistiocytosis that is caused by an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.Familial Hemophagocytic Lymphohistiocytosis 2A hemophagocytic lymphohistiocytosis that is caused by an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.Familial Hemophagocytic Lymphohistiocytosis 3A hemophagocytic lymphohistiocytosis that is caused by a mutation of the UNC13D gene on chromosome 17q25.1.Familial Hemophagocytic Lymphohistiocytosis 4A hemophagocytic lymphohistiocytosis that is caused by an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2.Familial Hemophagocytic Lymphohistiocytosis 5A hemophagocytic lymphohistiocytosis that is caused by a mutation of the STXBP2 gene on chromosome 19p13.2.Familial Hepatic AdenomaA hepatocellular adenoma characterized by highly vascularized liver adenomas that is caused by homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31.Familial HyperaldosteronismA primary hyperaldosteronism characterized by florid clinical and biochemical phenotypes.Familial Hyperaldosteronism IIA familial hyperaldosteronism characterized by hypertension due to increased aldosterone, often with hypokalemia that is caused by heterozygous mutation in the CLCN2 gene on chromosome 3q27.Familial Hyperaldosteronism IIIA familial hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production that is caused by heterozygous mutation in the KCNJ5 gene on chromosome 11q24.Familial Hyperaldosteronism IVA familial hyperaldosteronism that is caused by heterozygous mutation in the CACNA1H gene on chromosome 16p13.Familial Hypercholanemia 1A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins Familial Hypercholanemia 2A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that is caused by homozygous or compound heterozygous mutation in the SLC10A1 ge Familial Hypercholanemia 3A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that is caused by homozygous or compound heterozygous mutation in the BAAT gene on chr Familial HypercholesterolemiaA familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.Familial Hyperinsulinemic Hypoglycemia 1A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that is caused by mutation in the ABCC8 gene on chromosome 11p15.Familial Hyperinsulinemic Hypoglycemia 2A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that is caused by mutation in the KCNJ11 gene on chromosom Familial Hyperinsulinemic Hypoglycemia 3A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that is caused by activating mutations Familial Hyperinsulinemic Hypoglycemia 4A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that is caused by mutation in the HADH gene on chromosome 4q25.Familial Hyperinsulinemic Hypoglycemia 5A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that is caused by mutation in the I Familial Hyperinsulinemic Hypoglycemia 6A 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 is ca Familial Hyperinsulinemic Hypoglycemia 7A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that is caused by mutation in the SLC16A1 gene on chromosome 1p13.2.Familial Hyperinsulinemic Hypoglycemia 8A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that is caused by homozygous mutation in the SLC25A36 gene on chromosome 3q23.Familial HyperlipidemiaA lipid metabolism disease that is characterized by elevated levels of lipids in the blood.Familial Hypertrophic CardiomyopathyA hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and is caused by autosomal dominant inheritance of one or more gene mutations.Familial HypertryptophanemiaAn amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that is caused by homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1.Familial Hypobetalipoproteinemia 1A hypobetalipoproteinemia that is caused by mutation in the APOB gene on chromosome 2p24.Familial Hypobetalipoproteinemia 2A hypobetalipoproteinemia that is caused by homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.Familial Hypocalciuric HypercalcemiaA hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.Familial Hypocalciuric Hypercalcemia 1A familial hypocalciuric hypercalcemia that is caused by heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.Familial Hypocalciuric Hypercalcemia 2A familial hypocalciuric hypercalcemia that is caused by heterozygous mutation in the GNA11 gene on chromosome 19p13.Familial Hypocalciuric Hypercalcemia 3A familial hypocalciuric hypercalcemia that is caused by heterozygous mutation in the AP2S1 gene on chromosome 19q13.Familial Isolated Deficiency of Vitamin EA vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that is caused by homozygous or compound heterozygous mutation in t Familial Isolated HypoparathyroidismA hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.Familial Isolated Hypoparathyroidism 1A familial isolated hypoparathyroidism that is caused by heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15.Familial Isolated Hypoparathyroidism 2A familial isolated hypoparathyroidism that is caused by homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in Familial Isolated TrichomegalyAn eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that is caused by homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21.Familial Juvenile Hyperuricemic Nephropathy 3An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that is caused by linkage to a 5.5 Mb region on chromosome 2p22.Familial Lipase Maturation Factor 1 DeficiencyA familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that is caused by homozygous mutation in the LMF1 gene on chromosome 16p13.3.Familial Lipoprotein Lipase DeficiencyA 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 PubertyAn 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 is caused by heterozygous mu Familial Mediterranean FeverAn inherited inflammatory disorder causing fevers and pain.Familial Medullary Thyroid CarcinomaA thyroid gland medullary carcinoma that is caused by 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 Multiple LipomatosisA lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that is caused by autosomal dominant inheritance.Familial Multiple Nevi FlammeiA 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 SyndromeA nephrotic syndrome that is caused by genetic mutations.Familial Partial LipodystrophyA partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.Familial Partial Lipodystrophy Type 1A 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 2A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that is caused by mutation in the LMNA gene on chromosome 1q21.Familial Partial Lipodystrophy Type 3A familial partial lipodystrophy characterized by autosomal dominant inheritance that is caused by mutation in the PPARG gene on chromosome 3p25.Familial Partial Lipodystrophy Type 4A 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 hyper Familial Partial Lipodystrophy Type 5A familial partial lipodystrophy characterized by autosomal recessive inheritance that is caused by mutation in the CIDEC gene on chromosome 3p25.Familial Partial Lipodystrophy Type 6A familial partial lipodystrophy characterized by autosomal recessive inheritance that is caused by mutation in the LIPE gene on chromosome 19q13.Familial Periodic ParalysisA metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually wor Familial Progressive Hyperpigmentation with or Without HypopigmentationA skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that is caused by heterozygous mutatio Familial Renal GlucosuriaA renal glycosuria that is caused by homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2.Familial Restrictive Cardiomyopathy 1A restrictive cardiomyopathy that is caused by heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.Familial Restrictive Cardiomyopathy 2A restrictive cardiomyopathy that is caused by variation in a region on chromosome 10q23.3.Familial Restrictive Cardiomyopathy 3A restrictive cardiomyopathy that is caused by heterozygous mutation in the TNNT2 gene on chromosome 1q32.1.Familial Restrictive Cardiomyopathy 6A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that is caused by com Familial Temporal Lobe Epilepsy 1A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that is caused by heterozygous mutation Familial Temporal Lobe Epilepsy 2A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that is caused by variation in the chromosome region 12q22-q23.3.Familial Temporal Lobe Epilepsy 3A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that is caused by variation in the chromosome region 4q13.2-q21.3.Familial Temporal Lobe Epilepsy 4A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that is caused by variation in the chromosome region 9q21-q22.Familial Temporal Lobe Epilepsy 5A temporal lobe epilepsy that is caused by heterozygous mutation in the CPA6 gene on chromosome 8q13.Familial Temporal Lobe Epilepsy 6A temporal lobe epilepsy that is caused by variation in the chromosome region 3q25-q26.Familial Temporal Lobe Epilepsy 7A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that is caused by heterozygous mutation in the RELN gene on chromosome 7q22.Familial Temporal Lobe Epilepsy 8A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that is caused by heterozygous mutation in the GAL gene on chromosome 11q1 Familial Thyroid DyshormonogenesisA congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis.Familial Woolly Hair SyndromeA 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.Fanconi AnemiaAn inherited disorder affecting bone marrow and increasing cancer risk.Fanconi Anemia Complementation Group aA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.Fanconi Anemia Complementation Group BA Fanconi anemia that is caused by mutation in the FANCB gene on chromosome Xp22.Fanconi Anemia Complementation Group CA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.Fanconi Anemia Complementation Group D1A Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.Fanconi Anemia Complementation Group D2A Fanconi anemia that is caused by compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.Fanconi Anemia Complementation Group EA Fanconi anemia that is caused by homozygous mutation in the FANCE gene on chromosome 6p22-p21.Fanconi Anemia Complementation Group FA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.Fanconi Anemia Complementation Group GA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.Fanconi Anemia Complementation Group IA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.Fanconi Anemia Complementation Group JA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.Fanconi Anemia Complementation Group LA Fanconi anemia that is caused by homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.Fanconi Anemia Complementation Group NA Fanconi anemia that is caused by compound heterozygous mutation in the PALB2 gene on chromosome 16p12.Fanconi Anemia Complementation Group OA Fanconi anemia that is caused by homozygous mutation in the RAD51C gene on chromosome 17q21-q24.Fanconi Anemia Complementation Group PA Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that is caused by homozygous or compound heterozygous mutation in the SLX4 gen Fanconi Anemia Complementation Group QA Fanconi anemia that is caused by compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.Fanconi Anemia Complementation Group RA Fanconi anemia that is caused by heterozygous mutation in the RAD51 gene on chromosome 15q15.Fanconi Anemia Complementation Group SA Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that is caused by compound heterozygous or homozygous mutation in the BRCA1 gene on Fanconi Anemia Complementation Group TA Fanconi anemia that is caused by compound heterozygous mutation in the UBE2T gene on chromosome 1q32.Fanconi Anemia Complementation Group UA Fanconi anemia that is caused by homozygous mutation in the XRCC2 gene on chromosome 7q36.Fanconi Anemia Complementation Group VA Fanconi anemia that is caused by homozygous mutation in the MAD2L2 gene on chromosome 1p36.Fanconi Anemia Complementation Group WA Fanconi anemia that is caused by compound heterozygous mutation in the RFWD3 gene on chromosome 16q23.Fanconi-Bickel SyndromeA glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that is caused by homozygous or compound heterozygous Fanconi-Like SyndromeA syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.Fanconi Renotubular Syndrome 1A Fanconi syndrome that is caused by heterozygous mutation in the GATM gene on chromosome 15q21.Fanconi Renotubular Syndrome 2A Fanconi syndrome that is caused by homozygous mutation in the SLC34A1 gene on chromosome 5q35.Fanconi Renotubular Syndrome 3A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that is caused by h Fanconi Renotubular Syndrome 4A Fanconi syndrome that is caused by heterozygous mutation in the HNF4A gene on chromosome 20q13.Fanconi Renotubular Syndrome 5A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that is caused by homozygous mutation in the NDUFAF6 gene on chro Fanconi SyndromeA renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.Farber LipogranulomatosisA 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.Far Eastern Spotted FeverA spotted fever that is caused by Rickettsia heilongjiangensis, which is transmitted by ticks (Haemaphysalis concinna). The infection causes fever, causes eschar, causes maculopapular rash, and causes regional adenopathy Farmer'S LungAn extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectorat FasciitisA connective tissue disease characterized by inflammation located in the fascia.FascioliasisA parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hep FascioloidiasisA parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna.FasciolopsiasisA parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.Fatal Familial InsomniaA prion disease that is characterized by insomnia, hallucinations, dementia and death, in the brain.Fat Necrosis of BreastA breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.Fatty Liver DiseaseFat builds up in the liver, often linked to weight and metabolism. Tracking your symptoms and connecting with others who understand can help you manage day to day.FavismA glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.Fazio-Londe DiseaseA progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that is caused by homozygous mutation in the C20ORF54 gene on chromosome 20p13.Febrile SeizuresSeizures in young children triggered by fever.Feingold SyndromeA syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.Felty'S SyndromeAn autoimmune disease that causes rheumatoid arthritis, splenomegaly and neutropenia.Female Breast Axillary Tail CancerA female breast cancer that is in the breast tissue extending into the axilla.Female Breast CancerA breast cancer that develops from breast tissue in females.Female Breast CarcinomaA breast carcinoma that is manifested in the female breast.Female Breast Central Part CancerA female breast cancer that is in the center of the breast.Female Breast Lower-Inner Quadrant CancerA female breast cancer that is in the lower-inner quadrant of the breast.Female Breast Lower-Outer Quadrant CancerA female breast cancer that is in the lower-outer qudrant of the breast.Female Breast Nipple and Areola CancerA female breast cancer that is in the nipple and areola.Female Breast Upper-Inner Quadrant CancerA female breast cancer that is in the upper-inner quadrant of the breast.Female Breast Upper-Outer Quadrant CancerA female breast cancer that is in the upper-outer quadrant of the breast.Female Infertility of Uterine OriginA uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year.Female Reproductive Endometrioid CancerA female reproductive organ cancer that is characterized by a resemblance to endometrium.Female Reproductive Organ Benign NeoplasmA reproductive organ benign neoplasm that is characterized by a lack of malignancy in the female reproductive system.Female Reproductive Organ CancerA reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.Female-Restricted Syndromic X-Linked Intellectual Disability 99A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that is caused by heterozygous Female-Restricted Wieacker-Wolff SyndromeA syndromic X-linked intellectual disability that is caused by heterozygous mutation in the ZC4H2 gene on chromosome Xq11.Female Urethral CancerAn urethral cancer that arises from the female urethra.Femoral CancerA bone cancer that is in the femur.Femoral NeuropathyA mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve.Ferguson-Bonni Neurodevelopmental SyndromeA syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay that is caused by homozygous mutation in the ANAPC7 gene on chromos Fetal Akinesia Deformation Sequence SyndromeA syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often is caused by Fetal Akinesia Deformation Sequence Syndrome 1A fetal akinesia deformation sequence that is caused by homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.Fetal Akinesia Deformation Sequence Syndrome 2A fetal akinesia deformation sequence that is caused by homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.Fetal Akinesia Deformation Sequence Syndrome 3A fetal akinesia deformation sequence that is caused by homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.Fetal Akinesia Deformation Sequence Syndrome 4A fetal akinesia deformation sequence that is caused by homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.Fetal Akinesia Deformation Sequence Syndrome X-LinkedA fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures.Fetal Alcohol Spectrum DisorderA specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.Fetal Alcohol SyndromeA fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorpholog Fetal Encasement SyndromeA syndrome that is caused by homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk Fetal Nicotine Spectrum DisorderA specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.Fetal Valproate SyndromeA syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.FG SyndromeA syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.Fibrillary AstrocytomaA malignant astrocytoma that is characterized as a low grade astrocytoma and is caused by neoplastic astrocytes.FibrochondrogenesisAn osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in Fibrochondrogenesis 1A 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 Fibrochondrogenesis 2A fibrochondrogenesis that is caused by homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3.Fibrodysplasia Ossificans ProgressivaA rare condition where muscle turns to bone.Fibrogenesis Imperfecta OssiumA syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.Fibrolamellar CarcinomaA hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.FibromaA connective tissue benign neoplasm composed of fibrous or connective tissues that arises from mesenchymal tissue.FibromyalgiaWidespread pain, fatigue, and sleep problems. Tracking your symptoms and connecting with others who understand can help you manage day to day.FibrosarcomaA connective tissue cancer that is caused by fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.Fibrosarcoma of BoneA bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker.Fibrosclerosis of BreastA non-proliferative fibrocystic change of the breast that contains scar tissue.Fibrous DysplasiaA bone remodeling disease that causes the destruction of normal bone and replacing it with fibrous bone tissue.Fibular Hypoplasia and Complex BrachydactylyAn acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.FICUS SyndromeAn autosomal recessive intellectual developmental disorder characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastroin Filarial ElephantiasisA filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi FilariasisA parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.Filippi SyndromeA syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that is caused by homozygous or compound heterozygous mutation in th Finger AgnosiaAn agnosia that is a loss of the ability to distinguish the fingers on the hand.Finnish Type AmyloidosisAn amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and is caused by mutations in the gelsolin gene (GSN), and causes corneal lattice dystrophy, cause First-Degree Atrioventricular BlockAn atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node.Fish AllergyA food allergy triggered by fish.Flat Ductal Epithelial AtypiaA breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia.Fleck Corneal DystrophyA stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that is caused by heterozygous mutation in the PIKFYVE gene on chromosome 2q34.Fliedner-Zweier SyndromeA syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that is caused by heterozygou Flinders Island Spotted FeverA spotted fever that is caused by Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection causes mild spotted fever, causes eschar and causes adenopathy.FloatersSmall specks that drift across the field of vision.Floating-Harbor SyndromeA 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 Flying PhobiaA specific phobia that is characterized by a fear of flying.Focal Dermal HypoplasiaA syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and is caused by heterozygous mutation in the PORCN gene on chromosome Xp11.23.Focal DystoniaA dystonia that is localized to a specific part of the body.Focal EpilepsyAn epilepsy that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the ep Focal Epithelial HyperplasiaA viral infectious disease that causes infection in mouth, is caused by human papillomavirus (types 13 or 32), causes papules or nodules in the oral cavity.Focal Hand DystoniaA focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.Focal LabyrinthitisA labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis m Focal Nonepidermolytic Palmoplantar KeratodermaA nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.Focal Nonepidermolytic Palmoplantar Keratoderma 1A focal nonepidermolytic palmoplantar keratoderma that is caused by heterozygous mutation in the KRT16 gene on chromosome 17q21.2.Focal Nonepidermolytic Palmoplantar Keratoderma 2A focal nonepidermolytic palmoplantar keratoderma that is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.Focal or Diffuse Nonepidermolytic Palmoplantar KeratodermaA nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that is caused by heterozygous mutation in the KRT6C gene on chromosome 12q13.13.Focal Palmoplantar and Gingival KeratosisA palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva.Focal Segmental Glomerulosclerosis 1A focal segmental glomerulosclerosis that is caused by an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.Focal Segmental Glomerulosclerosis 2A focal segmental glomerulosclerosis that is caused by a mutation of the TRPC6 gene on chromosome 11q22.1.Focal Segmental Glomerulosclerosis 3A focal segmental glomerulosclerosis that is caused by loss of function mutation in the CD2AP gene on chromosome 6p12.3.Focal Segmental Glomerulosclerosis 5A focal segmental glomerulosclerosis that is caused by an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.Focal Segmental Glomerulosclerosis 6A focal segmental glomerulosclerosis that is caused by an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2.Focal Segmental Glomerulosclerosis 7A focal segmental glomerulosclerosis that is caused by an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.Focal Segmental Glomerulosclerosis 8A focal segmental glomerulosclerosis that is caused by an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2.Focal Segmental Glomerulosclerosis 9A focal segmental glomerulosclerosis that is caused by an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3.Folic Acid Deficiency AnemiaA nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, is caused by insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.Follicular Basal Cell CarcinomaA basal cell carcinoma that is characterized by follicular differentiation.Follicular Dendritic Cell SarcomaA dendritic cell sarcoma cancer that effects the follicular dendritic cells.Follicular LymphomaA B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and is caused by follicle center B-cells (centrocytes and centroblasts).Follicular Thyroid CarcinomaA differentiated thyroid gland carcinoma that is caused by follicular cells.FolliculitisInflammation of the hair follicles.Fontaine Progeroid SyndromeA progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is m Food AllergiesAn immune reaction to certain foods that can be severe. Tracking your symptoms and connecting with others who understand can help you manage day to day.Food AllergyA hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.Foodborne BotulismA botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, is caused by Clostridium botulinum A, is caused by Form AgnosiaAn agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.Formaldehyde Allergic Contact DermatitisAn allergic contact dermatitis that triggered by formaldehyde.Foveal Hypoplasia 1A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that is caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.Foveal Hypoplasia 2A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decuss Fox-Fordyce DiseaseA 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 causes flesh colored papu FractureA break in a bone.Fragile X-Associated Tremor/Ataxia SyndromeA X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, is caused by expanded trinucleotide repeat of the FMR1 gene that causes a toxic gain of function of FMR1 RNA Fragile X SyndromeA genetic condition causing intellectual disability.Frank-Ter Haar SyndromeAn otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks Fraser SyndromeA syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that is caused by homozygous or compound heterozygous mutatio Fraser Syndrome 1A Fraser syndrome that is caused by homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21.Fraser Syndrome 2A Fraser syndrome that is caused by homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3.Fraser Syndrome 3A Fraser syndrome that is caused by homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3.Frasier SyndromeA 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 SyndromeA distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.French Canadian Leigh DiseaseA 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 Frey SyndromeAn 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 1A Friedreich ataxia that is caused by homozygous or compound heterozygous mutation in FXN on 9q21.1.Friedreich Ataxia 2A Friedreich ataxia that is caused by mutation in the 9p23-p11 chromosome region.Friedreich's AtaxiaA genetic disorder causing progressive nervous system damage.Froelich SyndromeA hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.Frontal Lobe EpilepsyFocal epilepsy affecting the frontal lobe.Frontal SinusitisA sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.Frontal Sinus Squamous Cell CarcinomaA squamous cell carcinoma that is in the frontal sinus.Frontometaphyseal DysplasiaAn otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.Frontometaphyseal Dysplasia 1A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that is caused by homozygous or hemizygous mutation in FLNA on chromosome Xq28.Frontometaphyseal Dysplasia 2A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that is caused by heterozygous mutation in MAP3K7 on chromosome 6 Frontonasal DysplasiaA syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak.Frontonasal Dysplasia 1A 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, col Frontonasal Dysplasia 2A frontonasal dysplasia that is caused by homozygous mutation in the ALX4 gene on chromosome 11p11.Frontonasal Dysplasia 3A frontonasal dysplasia that is caused by homozygous mutation in the ALX1 gene on chromosome 12q21.Frontotemporal DementiaA group of disorders affecting the frontal and temporal lobes.Frontotemporal Dementia 1A frontotemporal dementia that is caused by heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21.Frontotemporal Dementia 2A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclus Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2An amyotrophic lateral sclerosis that is caused by mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.Frozen ShoulderStiffness and pain in the shoulder joint.Fructose-1,6-Bisphosphatase DeficiencyA carbohydrate metabolic disorder that is caused by a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.Fructose IntoleranceDifficulty absorbing fructose from fruit and sweeteners.Fruit AllergyA food allergy triggered by a plant fruit product.Fuchs' Endothelial DystrophyA 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 UveitisA 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 SyndromeA bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that is caused by autosomal recessive inheritance of homozygous mutation in Fukuyama Congenital Muscular DystrophyA congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and is ca Fumarase DeficiencyAn 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 is caused by homoz Fundus AlbipunctatusA fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.Fungal GastritisA gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.Fungal Infectious DiseaseA disease by infectious agent that causes infection, is caused by Fungi, which pass the resistance barriers of the human or animal body.Fungal MeningitisA meningitis that is caused by a fungal infection.FunisitisA connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.FusariosisAn opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-ti

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