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G6PD DeficiencyA genetic condition where red blood cells break down under stress.GABA Aminotransferase DeficiencyA 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 importanGalactokinase DeficiencyA galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.Galactose Epimerase DeficiencyA galactosemia that is caused by homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.GalactosemiaA genetic condition where the body can't process the sugar galactose.Galactosemia 4A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that is caused by homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.GalactosialidosisA lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that is caused by homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.Gallamine AllergyA drug allergy that triggered by gallamine.Gallbladder AdenocarcinomaA gallbladder carcinoma that arises from epithelial cells of glandular origin.Gallbladder AdenomaA gallbladder benign neoplasm that is caused by epithelial tissue of glandular origin in the gallbladder.Gallbladder AngiosarcomaAn angiosarcoma and gallbladder sarcoma that is in the gallbladder.Gallbladder Benign NeoplasmA biliary tract benign neoplasm that is in the gallbladder.Gallbladder CancerA rare cancer of the gallbladder.Gallbladder CarcinomaA gallbladder cancer that is caused by abnormally proliferating cells arises from epithelial cells.Gallbladder Carcinoma in SituAn in situ carcinoma in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.Gallbladder DiseaseA gastrointestinal system disease that is in the gallbladder.Gallbladder LeiomyomaA gastrointestinal system benign neoplasm that is in the gallbladder and arises from smooth muscle cells.Gallbladder LeiomyosarcomaA gallbladder sarcoma that is in the soft tissues of the gallbladder.Gallbladder LipomaA gallbladder benign neoplasm that is in the gallbladder and arises from fat cells.Gallbladder Papillary CarcinomaA papillary carcioma that is in the gallbladder.Gallbladder PapillomatosisA gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue.Gallbladder RhabdomyosarcomaA gallbladder sarcoma that is in the gallbladder that is caused by cells that normally develop into skeletal (voluntary) muscles.Gallbladder SarcomaA sarcoma that is in the gallbladder.Gallbladder Squamous Cell CarcinomaA squamous cell carcinoma that is in the gallbladder.Galloway-Mowat SyndromeA syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.Galloway-Mowat Syndrome 1A Galloway-Mowat syndrome that is caused by homozygous mutation in the WDR73 gene on chromosome 15q25.Galloway-Mowat Syndrome 10A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that is caused by homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34.Galloway-Mowat Syndrome 2A Galloway-Mowat syndrome that is caused by hemizygous mutation in the LAGE3 gene on chromosome Xq28.Galloway-Mowat Syndrome 3A Galloway-Mowat syndrome that is caused by homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11.Galloway-Mowat Syndrome 4A Galloway-Mowat syndrome that is caused by homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.Galloway-Mowat Syndrome 5A Galloway-Mowat syndrome that is caused by homozygous mutation in the TPRKB gene on chromosome 2p13.Galloway-Mowat Syndrome 6A Galloway-Mowat syndrome that is caused by homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22.Galloway-Mowat Syndrome 7A Galloway-Mowat syndrome that is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.Galloway-Mowat Syndrome 8A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renGalloway-Mowat Syndrome 9A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that is caused by homozygous mutation in the GON7 gene on chromosome 14q32.GallstonesHard deposits that form in the gallbladder. Tracking your symptoms and connecting with others who understand can help you manage day to day.Gambling DisorderCompulsive gambling that harms finances and relationships.Gamma-Amino Butyric Acid Metabolism DisorderAn amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.Gamma-Glutamyl Transpeptidase DeficiencyAn amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that is caused by homozygous or compound heterozygous mutation in GGT1 on 22q11.23.Gamma Heavy Chain DiseaseA heavy chain disease that results from an overproduction of gamma antibody (IgG).Gamstorp-Wohlfart SyndromeA 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 lGAND SyndromeAn autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that isGangliocytomaA central nervous system benign neoplasm that is caused by mature neurons, and is classified by the absence of neoplastic glial cells.GangliogliomaA cell type benign neoplasm that is caused by glial-type cells.Ganglion CystA noncancerous lump, usually on the wrist or hand.GanglioneuromaAn autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.GangliosidosisA sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.GAPO SyndromeA syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that is caused by homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.Gas GangreneA commensal bacterial infectious disease that results in infection, located in muscle tissue, is caused by Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually deveGastric AdenocarcinomaA stomach carcinoma that arises from epithelial cells of glandular origin.Gastric Diffuse AdenocarcinomaA gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.Gastric Fundus CancerA stomach cancer that is in the gastric fundus.Gastric LeiomyomaA gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.Gastric Papillary AdenocarcinomaA papillary adenocarcinoma that is in the stomach.Gastric Squamous Cell CarcinomaA squamous cell carcinoma that is in the stomach.Gastric TeratomaA teratoma that is in the stomach or other gastric tissue.GastrinomaA neuroendocrine tumor that causes an overproduction of gastric acid.GastritisInflammation of the stomach lining.Gastroduodenal Crohn'S DiseaseAn inflammatory bowel disease characterized by inflammation in stomach and in duodenum, causes nausea, causes vomiting, causes weight loss and causes loss of appetite.GastroenteritisInflammation of the stomach and intestines, often from infection.Gastroesophageal AdenocarcinomaA gastroesophageal cancer that is caused by abnormally proliferating cells, arises from epithelial cells, which originate in glandular tissue.Gastroesophageal CancerA gastrointestinal system cancer that is in the proximal esophagus and the distal stomach.Gastrointestinal AllergyAn allergic disease that is in the gastrointestinal tract.Gastrointestinal AnthraxAn anthrax disease that results in infection located in mucosa of gastrointestinal tract, is caused by Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, haGastrointestinal CarcinomaA gastrointestinal system cancer that is caused by epithelial cells.Gastrointestinal Neuroendocrine TumorA gastrointestinal system cancer that is caused by neuroendocrine cells.Gastrointestinal Stromal TumorA rare tumor of the digestive tract.Gastrointestinal System Benign NeoplasmAn organ system benign neoplasm in gastrointestinal tract organs.Gastrointestinal System CancerAn organ system cancer in gastrointestinal tract that is manifested in organs of the gastrointestinal system.Gastrointestinal TuberculosisAn abdominal tuberculosis that causes infection in gastrointestinal tract. The infection causes abdominal pain, causes weight loss, causes fever, causes anorexia, causes constipation, causes nausea, and causes vomiting.Gastrointestinal TularemiaA tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.GastroparesisThe stomach empties too slowly, causing nausea and fullness. Tracking your symptoms and connecting with others who understand can help you manage day to day.Gaucher DiseaseA genetic disorder where fatty substances build up in organs.Gaucher'S DiseaseA 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 mGaucher'S Disease Perinatal LethalA Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that is caused by homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.Gaucher'S Disease Type IA Gaucher's disease characterized by absence of primary central nervous system involvement that involves or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.Gaucher'S Disease Type IIA Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that is caused by homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1qGaucher'S Disease Type IIIA Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that is caused by homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.Gaucher'S Disease Type IIICA Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that is caused by homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.Gelatinous Drop-Like Corneal DystrophyAn epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that is caused by homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes theGeleophysic DysplasiaA bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.Geleophysic Dysplasia 1A geleophysic dysplasia that is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.Geleophysic Dysplasia 2A geleophysic dysplasia that is caused by heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.Geleophysic Dysplasia 3A geleophysic dysplasia that is caused by heterozygous mutation in the LTBP3 gene on chromosome 11q13.1.Gender DysphoriaDistress from a mismatch between gender identity and assigned sex.Gender IncongruenceA sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as.Gene Duplication DiseaseA monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.Generalized Anxiety DisorderExcessive, uncontrollable worry about everyday things.Generalized AtherosclerosisAn atherosclerosis that is not localized.Generalized DystoniaA dystonia that affects most or all of the body.Generalized EpilepsyAn epilepsy that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.Generalized Epilepsy with Febrile Seizures PlusAn generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.Generalized Epilepsy with Febrile Seizures Plus 1A generalized epilepsy with febrile seizures plus that is caused by heterozygous mutation in SCN1B on chromosome 19q13.11.Generalized Epilepsy with Febrile Seizures Plus 10A generalized epilepsy with febrile seizures plus that is caused by heterozygous mutation in HCN1 on chromosome 5p12.Generalized Epilepsy with Febrile Seizures Plus 2A generalized epilepsy with febrile seizures plus that is caused by heterozygous mutation in SCN1A on chromosome 2q24.3.Generalized Epilepsy with Febrile Seizures Plus 4A generalized epilepsy with febrile seizures plus that is caused by variation in a region on chromosome 2p24.Generalized Epilepsy with Febrile Seizures Plus 6A generalized epilepsy with febrile seizures plus that is caused by variation in a region on chromosome 8p23-p21.Generalized Epilepsy with Febrile Seizures Plus 7A generalized epilepsy with febrile seizures plus that is caused by heterozygous mutation in SCN9A on chromosome 2q24.3.Generalized Epilepsy with Febrile Seizures Plus 8A generalized epilepsy with febrile seizures plus that is caused by variation in a region on chromosome 6q16.3-q22.31.Generalized Epilepsy with Febrile Seizures Plus 9A generalized epilepsy with febrile seizures plus that is caused by heterozygous mutation in STX1B on chromosome 16p11.2.Generalized Intermediate Epidermolysis Bullosa Simplex 1BAn epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy and is caused by heterozygous mutation in the KRT14 gene on chromosome 17q21.Generalized Lymphatic AnomalyA lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations.Generalized Severe Epidermolysis Bullosa Simplex 1AAn epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermaGenital HerpesA sexually transmitted infection causing sores.Geographic TongueAn atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.GeotrichosisAn opportunistic mycosis that is caused by Galactomyces geotrichum, causes systemic infection in immunocompromised people.GERD / Acid RefluxStomach acid flows back into the esophagus, causing heartburn. Tracking your symptoms and connecting with others who understand can help you manage day to day.Germ Cell and Embryonal CancerA germ cell cancer that is arises from a mixture of germs cells and embryonal cells.Germ Cell Benign NeoplasmA benign neoplasm that arises from germ cells.Germ Cell CancerA cell type cancer that is caused by abnormally proliferating cells arises from germ cells.GerminomaA germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.Geroderma OsteodysplasticumA syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmentGerstmann-Straussler-Scheinker SyndromeA prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.Gerstmann SyndromeA nervous system disease that results from damage in left parietal lobe, causes agraphia, causes acalculia, causes finger agnosia.Gestational ChoriocarcinomaA choriocarcinoma that develops in the presence of a preceding gestational event.Gestational DiabetesHigh blood sugar that develops during pregnancy. Tracking your symptoms and connecting with others who understand can help you manage day to day.Gestational Diabetes InsipidusA diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening throughGestational Ovarian ChoriocarcinomaA choriocarcinoma of the ovary that develops in the presence of a preceding gestational event.Gestational Uterine Corpus ChoriocarcinomaA gestational choriocarcinoma that is in the uterine corpus.Ghosal Hematodiaphyseal SyndromeA syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that is caused by homozygous or compound heterozygous mutation in TBXAS1 on chrGiant Axonal Neuropathy 1An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and is caused by autosomGiant Axonal Neuropathy 2An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and is caused by autosomal dominant inheritaGiant Cell ArteritisInflammation of the arteries in the head and neck.Giant Cell GlioblastomaA glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells.GiardiasisA parasitic infection of the small intestine.Gilbert SyndromeA bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.Gilles De La Tourette SyndromeA tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.Gillespie SyndromeA syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that is caused by heterozygous, homozygous, or compound heterozygous mutation in the ITPGingival DiseaseA periodontal disease that is in the gums.Gingival FibromatosisA gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.Gingival Fibromatosis 1A gingival fibromatosis that is caused by heterozygous mutation in the SOS1 gene on chromosome 2p22.Gingival Fibromatosis 2A gingival fibromatosis that is caused by variation in a region on chromosome 5q13-q22.Gingival Fibromatosis 3A gingival fibromatosis characterized by gingival overgrowth in early childhood at the time of tooth eruption that is caused by variation in a region on chromosome 2p23.3-p22.3.Gingival Fibromatosis 4A gingival fibromatosis that is caused by variation in a region on chromosome 11p15.Gingival Fibromatosis 5A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that is caused by heterozygous mutation in the REST gene on chromosome 4q12.Gingival Fibromatosis 6A gingival fibromatosis that is caused by heterozygous mutation in the ZNF862 gene on chromosome 7q36.Gitelman SyndromeA renal tubular transport disease that is is caused by mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairingGlandersA primary bacterial infectious disease that results in septicemic infection, is caused by Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfacesGlandular Pattern Ovarian Yolk Sac TumorAn ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology.Glandular TularemiaA tularemia that causes swelling of regional lymph glands.Glanzmann'S ThrombastheniaA blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that is caused by mutation in the ITGA2B or ITGB3 genes on chromosoGlassy Cell Variant Cervical Adenosquamous CarcinomaA cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm.GlaucomaDamage to the optic nerve that can cause vision loss. Tracking your symptoms and connecting with others who understand can help you manage day to day.Glaucomatous Atrophy of Optic DiscAn optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intGlioblastomaAn aggressive type of brain cancer.Glioblastoma Classical SubtypeA glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.Glioblastoma Mesenchymal SubtypeA glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.Glioblastoma Neural SubtypeA glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.Glioblastoma Proneural SubtypeA glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.Gliomatosis CerebriA brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and is caused by abnormally proliferating cells, arises from glial cells.GliosarcomaA gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.Globe DiseaseAn eye disease that involves the globe of the eye.GlomangiomaA benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patientsGlomangiomatosisA benign perivascular tumor that is characterized as a vascular variant of a glomus tumor.GlomerulonephritisInflammation of the kidney's filtering units. Tracking your symptoms and connecting with others who understand can help you manage day to day.GlomerulosclerosisA glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.Glomus TumorA hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.Glossopharyngeal Nerve DiseaseA cranial nerve disease that is in the ninth cranial nerve or its nuclei in the medulla.Glottis Squamous Cell CarcinomaA squamous cell carcinoma that is in the glottis.Glucocorticoid Deficiency 1A familial glucocorticoid deficiency that is caused by homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 1Glucocorticoid Deficiency 2A familial glucocorticoid deficiency that is caused by homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22.Glucocorticoid Deficiency 4 with or Without Mineralocorticoid DeficiencyA familial glucocorticoid deficiency that is caused by homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12.Glucocorticoid Deficiency 5A familial glucocorticoid deficiency that is caused by homozygous mutation in the TXNRD2 gene on chromosome 22q11.Glucocorticoid-Induced OsteoporosisAn osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteGlucocorticoid-Remediable AldosteronismA primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that is causGlucose-Galactose MalabsorptionA glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that is causeGlucose Metabolism DiseaseA carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.Glucosephosphate Dehydrogenase DeficiencyA carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).Glucose Transporter Type 1 Deficiency SyndromeA glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that is caused by mutation in the SLC2A1 gene on chromGlucose Transporter Type 1 Deficiency Syndrome 1A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.Glucose Transporter Type 1 Deficiency Syndrome 2A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.Glutamate Formiminotransferase DeficiencyA vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that is caused by homozygous or compound heterozygous mGlutaric Acidemia IAn organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatalGlutaric Acidemia Type 3A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that is caused by homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14Glutathione Synthetase DeficiencyAn amino acid metabolic disorder characterized by the lack of glutathione production.Glutathione Synthetase Deficiency with 5-OxoprolinuriaA glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that is caused by homozygous or compoundGluten AllergyA food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelatGlycerol Kinase DeficiencyAn inherited metabolic disorder characterized by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparGlycine EncephalopathyAn amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.Glycine Encephalopathy 1A glycine encephalopathy that is caused by homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.Glycine Encephalopathy 2A glycine encephalopathy that is caused by homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.Glycine N-Methyltransferase DeficiencyA hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that is caused by homozGlycogen Metabolism DisorderA carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.Glycogen-Rich CarcinomaA breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.Glycogen-Rich Clear Cell Breast CarcinomaA glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen.Glycogen Storage DiseaseA glycogen metabolism disorder that is caused by enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.Glycogen Storage Disease IA glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipGlycogen Storage Disease IaA glycogen storage disease I that is caused by homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.Glycogen Storage Disease IbA glycogen storage disease I that is caused by homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.Glycogen Storage Disease IcA glycogen storage disease I that is caused by homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the dGlycogen Storage Disease IIA glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.Glycogen Storage Disease IIIA glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that is caused by homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycoGlycogen Storage Disease IVA glycogen storage disease that is caused by homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.Glycogen Storage Disease IXA glycogen storage disease characterized by deficiency of phosphorylase kinase (PhK) activity.Glycogen Storage Disease IXa1A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fastiGlycogen Storage Disease IXbA glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that is caused byGlycogen Storage Disease IXcA glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that is caGlycogen Storage Disease IXdA glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that is caused by mutation in the PHKA1 gene on chromosome Xq13.Glycogen Storage DiseasesA group of disorders affecting glycogen metabolism.Glycogen Storage Disease VA glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that is caused by homozygous or compound heterozygous mutation in the PYGM gene, which eGlycogen Storage Disease VIA glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.Glycogen Storage Disease VIIA glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that is caused by homozygous or compound heterozygous mutation in the PFKM genGlycogen Storage Disease XA glycogen storage disease that is caused by homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13.Glycogen Storage Disease XIA glycogen storage disease that is caused by homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15.Glycogen Storage Disease XIIA glycogen storage disease that is caused by homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11.Glycogen Storage Disease XIIIA glycogen storage disease that is caused by homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13.Glycogen Storage Disease XVA glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and is caused by mutation in the GYG1 gene that encodes glycogenin-1.GlycoproteinosisA mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).Glycosylphosphatidylinositol Biosynthesis Defect 16An autosomal recessive intellectual developmental disorder that is caused by homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.GM1 GangliosidosisA gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that is caused by mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1GM1 Gangliosidosis Type 1A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-redGM1 Gangliosidosis Type 2A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.GM1 Gangliosidosis Type 3A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.GM2 GangliosidosisA gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.GM2 Gangliosidosis, AB VariantA GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.Gnathodiaphyseal DysplasiaAn osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that is caused by heterozygous mutatioGnathomiasisA parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containGNE MyopathyA myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that is causeGoat Milk AllergyA milk allergy triggered by Capra hircus milk.GoiterAn enlarged thyroid gland.Goldberg-Shprintzen SyndromeA syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.Goldenhar SyndromeA syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.Gollop-Wolfgang ComplexA physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities.Gonadal DiseaseAn endocrine system disease that is in the gonads.Gonadal DysgenesisA disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.GonadoblastomaA cell type benign neoplasm that is composed of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises thGonococcal BursitisA bursitis that is characterized by an inflammation of a bursa caused by the Neisseria gonorrhoeae bacteria, resulting from gonorrhea that has spread to other parts of the body.GonorrheaA bacterial sexually transmitted infection.Goodpasture SyndromeA rare autoimmune disease affecting the lungs and kidneys.Good SyndromeA combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.Gordon Holmes SyndromeAn inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that is caused by homozygoGorham'S DiseaseA syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissuGoutSudden, painful joint inflammation caused by uric acid crystals. Tracking your symptoms and connecting with others who understand can help you manage day to day.GRACILE SyndromeA mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that is caused by homozygous or compound heterozygous mutation in the BCS1L genGrade III Lymphomatoid GranulomatosisA lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. NecroGrade II Lymphomatoid GranulomatosisA lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granGrade I Lymphomatoid GranulomatosisA lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are iGraft-Versus-Host DiseaseAn immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterizeGranular Cell CarcinomaA carcinoma that arises from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.Granular Cell LeiomyosarcomaA leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm.Granular Cell Tumor of the Sellar RegionA posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes.Granular Corneal DystrophyAn epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.Granular Corneal Dystrophy 1A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vGranular Corneal Dystrophy 2An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, andGranuloma InguinaleA primary bacterial infectious disease that causes infection in skin or in mucosa of genital tract, is caused by Klebsiella granulomatis, transmitted by sexual contact or transmitted by contact with the open sores. The iGranulomatosis with PolyangiitisInflammation of blood vessels in the nose, lungs, and kidneys.Granulomatous Amebic EncephalitisA parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, whichGranulomatous EndometritisAn endometritis that is characterized by the presence of granulomas in the uterus.Granulosa Cell TumorA sex cord-gonadal stromal tumor that is caused by granulosa cells and arises from the sex cord stroma.Graves' DiseaseAn autoimmune condition that causes an overactive thyroid.Graves OphthalmopathyAn autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.Gray Platelet SyndromeA blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time thGray Zone LymphomaA lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.Greenberg DysplasiaAn inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganizatGreig Cephalopolysyndactyly SyndromeAn acrocephalosyndactylia that is caused by mutation in the GLI3 gene which causes abnormal development in limb, in head, in face.GRID2-Related Spinocerebellar AtaxiaAn autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.Griscelli SyndromeAn integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin.Griscelli Syndrome Type 1A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that is caused by mutations in the MYO5A gene on chromosome 15q21.2.Griscelli Syndrome Type 2A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that is caused by mutation in the RAB27A gene on chromosome 15Griscelli Syndrome Type 3A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that is caused by mutation in the MLPH or MYO5A genes.Growth Hormone DeficiencyThe pituitary gland doesn't produce enough growth hormone.Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1A syndrome that is characterized by short stature due to insensitivity to growth hormone and that is caused by homozygous mutation in the STAT5B gene on chromosome 17q21.Growth Hormone Secreting Pituitary Adenoma 2A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that is caused by mutation in the GPR101 gene on chromosome Xq26.3.Guanidinoacetate Methyltransferase DeficiencyA cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, is caused by homozygous or compound heterozygous mutation in the GAMTGuillain-Barre SyndromeAn autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.Guillain-Barré SyndromeThe immune system attacks the nerves, causing weakness and tingling.Guillouet-Gordon SyndromeA syndrome characterized by intellectual disability, speech delay, and/or motor delay of variable severity associated with variable combinations of craniofacial defects, anomalies of the extremities, and heart defects thGummatous SyphilisA tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect aGuttmacher SyndromeA syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that is caused by heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.GynatresiaA female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina.GynecomastiaA disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
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