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Disease	Synonyms	Description	Articles	Phenotypes
Galloway-Mowat syndrome 5		A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. [-]
GM1 gangliosidosis type 1		A GM1 gangliosidosis that is characterized by rapi..[+] A 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-red spots, skeletal dysplasia, and early death. [-]
galactosialidosis		A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. [-]
germ cell benign neoplasm		A benign neoplasm that derives_from germ cells.
glucocorticoid deficiency 1		A familial glucocorticoid deficiency that has_mate..[+] A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. [-]
gallbladder benign neoplasm		A biliary tract benign neoplasm that is located_in..[+] A biliary tract benign neoplasm that is located_in the gallbladder. [-]
Galloway-Mowat syndrome		A syndrome that is characterized by developmental ..[+] A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. [-]	3 articles	21 matches
glutathione synthetase deficiency		An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the lack of glutathione production. [-]
gene duplication disease	gene duplication syndrome	A monogenic disease that is the result of a mutati..[+] A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. [-]
GNE myopathy	Distal Myopathy with Rimmed Vacuoles; Distal myopa.. [+] Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; inclusion body myopathy 2; Nonaka myopathy [-]	A myopathy that is characterized by progressive sk..[+] A 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 has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. [-]
growth hormone insensitivity syndrome with immune dysregulation 1		A syndrome that is characterized by short stature ..[+] A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. [-]
growth hormone insensitivity syndrome with immune dysregulation 2		A syndrome that is characterized by short stature ..[+] A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. [-]
glycogen-rich carcinoma		A breast adenocarcinoma characterized by the prese..[+] A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. [-]
generalized lymphatic anomaly		A lymphatic system disease that is characterized b..[+] A 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. [-]
glutatione synthetase deficiency with 5-oxoprolinuria		A glutathione synthetase deficiency that is charac..[+] A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. [-]
gestational diabetes insipidus	transient diabetes insipidus of pregnancy	A diabetes insipidus that is characterized by prog..[+] A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. [-]
Graves ophthalmopathy	Graves orbitopathy; Thyroid associated ophthalmopa.. [+] Graves orbitopathy; Thyroid associated ophthalmopathy; thyroid eye disease [-]	An autoimmune disease of eyes, ear, nose and throa..[+] An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. [-]
glycosylphosphatidylinositol biosynthesis defect 16	Intellectual developmental disorder, autosomal rec.. [+] Intellectual developmental disorder, autosomal recessive 62 [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. [-]
graft-versus-host disease	GvHD; graft versus host disease	An immune system disease that is characterized by ..[+] An 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 characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. [-]
grade I lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterize..[+] A 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 infrequently seen. [-]
grade II lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterize..[+] A 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 granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. [-]
grade III lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterize..[+] A 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. Necrotic changes are present and are usually extensive. [-]
glycogen storage disease I	glycogenosis type I; Glycogen storage disease 1; g.. [+] Glycogen storage disease 1; glycogenosis type I; glycogen storage disease type I; deficiency of glucose-6-phosphatase; von Gierke disease; von Gierke's disease [-]	A glycogen storage disease that is characterized b..[+] A 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, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. [-]
glycogen storage disease Ib		A glycogen storage disease I that has_material_bas..[+] A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. [-]
glycogen storage disease Ic		A glycogen storage disease I that has_material_bas..[+] A glycogen storage disease I that has_material_basis_in 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 defect in glycogen storage disease Ib. [-]
giant axonal neuropathy 1		An axonal neuopathy that is characterized by progr..[+] An 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 has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. [-]
giant axonal neuropathy 2		An axonal neuopathy characterized by autosomal dom..[+] An axonal neuopathy characterized by autosomal dominant inheritance of distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation that has_material_basis_in heterozygous mutation in the DCAF8 gene on chromosome 1q23 [-]
Gaucher's disease type I	GD I; Glucocerebrosidase Deficiency; GD1; Gba Defi.. [+] GD1; Glucocerebrosidase Deficiency; GD I; Gba Deficiency; Gaucher Disease, Noncerebral Juvenile; Acid Beta-Glucosidase Deficiency [-]	A Gaucher's disease characterized by absence of pr..[+] A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease type II	GD II; GD2; Gaucher Disease, Acute Neuronopathic T.. [+] GD2; GD II; Gaucher Disease, Acute Neuronopathic Type; Infantile Cerebral Gaucher Disease [-]	A Gaucher's disease characterized by rapid neurolo..[+] A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease type III	Gaucher Disease, Chronic Neuronopathic Type; Gauch.. [+] Gaucher Disease, Chronic Neuronopathic Type; Gaucher Disease, Juvenile And Adult, Cerebral; Gaucher Disease, Subacute Neuronopathic Type; GD III [-]	A Gaucher's disease characterized by later onset a..[+] A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease perinatal lethal	Gaucher Disease, Collodion Type; Fetal Gaucher Dis.. [+] Gaucher Disease, Collodion Type; Fetal Gaucher Disease [-]	A Gaucher's Disease characterized by perinatal let..[+] A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
glycine N-methyltransferase deficiency	GNMT deficiency; hypermethioninemia due to glycine.. [+] GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; hypermethioninemia due to GNMT deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. [-]
glycogen storage disease IXd	GSD type IXd; GSD9D; GSD due to muscle phosphoryla.. [+] GSD9D; GSD type IXd; GSD due to muscle phosphorylase kinase deficiency; glycogenosis type 9E; glycogen storage disease type IXe; glycogen storage disease type 9E; GSD type IXe; GSD type 9E; GSD type 9D; GSD IXd; glycogenosis type IXe; glycogenosis type IXd; glycogenosis type 9D; glycogenosis due to muscle phosphorylase kinase deficiency; glycogen storage disease type IXd; glycogen storage disease type 9D; glycogen storage disease due to muscle phosphorylase kinase deficiency; muscle phosphorylase kinase deficiency; X-linked muscke glycogenosis [-]	A glycogen storage disease IX that is characterize..[+] A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. [-]
glycogen storage disease IXb	glycogen storage disease type IXb; GSD type 9B; GS.. [+] GSD type 9B; glycogen storage disease type IXb; GSD type IXb; GSD IXb; glycogenosis due to liver and muscle phosphorylase kinase deficiency; glycogen storage disease type 9B; GSD9B; GSD due to liver and muscle phosphorylase kinase deficiency; glycogenosis type IXb; glycogenosis type 9B [-]	A glycogen storage disease IX characterized by aut..[+] A 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 has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. [-]
glycogen storage disease IXa	GSD type IXa; glycogenosis type 9A; GSD9A; GSD typ.. [+] GSD9A; glycogenosis type 9A; GSD type IXa; GSD type 9A; glycogenosis type IXa; glycogen storage disease type IXa; glycogen storage disease type 9A [-]	A glycogen storage disease IX characterized by X-l..[+] A glycogen storage disease IX characterized by X-linked inheritance of hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material_basis_in mutation in the PHKA2 gene on chromosome Xp22. [-]
glycogen storage disease IXc	GSD9C; glycogenosis type 9C; GSD type 9C; GSD type.. [+] GSD type 9C; glycogenosis type 9C; GSD9C; GSD type IXc; glycogenosis type IXc; glycogen storage disease type IXc; glycogen storage disease type 9C [-]	A glycogen storage disease IX characterized by aut..[+] A 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 has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. [-]
gray platelet syndrome	GPS; BDPLT4; platelet-type bleeding disorder 4; pl.. [+] GPS; BDPLT4; platelet-type bleeding disorder 4; platelet alpha-granule deficiency [-]	A blood platelet disease characterized by selectiv..[+] A 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 that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. [-]
glutaric acidemia I	glutaryl-coenzyme A dehydrogenase deficiency; glut.. [+] glutaryl-coenzyme A dehydrogenase deficiency; glutaryl-coA dehydrogenase deficiency; glutaric aciduria type I; glutaric aciduria 1; glutaric academia type 1; GA1 [-]	An organic acidemia characterized by impaired lysi..[+] An 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 striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. [-]
gamma-glutamyl transpeptidase deficiency	GGT1 deficiency; GTG deficiency; glutathionuria; G.. [+] glutathionuria; GTG deficiency; GGT1 deficiency; GGT deficiency; gamma-glutamyl transferase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. [-]
geroderma osteodysplasticum	GO; geroderma osteodysplastica; gerodermia osteody.. [+] geroderma osteodysplastica; GO; gerodermia osteodysplastica; Walt Disney dwarfism [-]	A syndrome characterized by lax and wrinkled skin,..[+] A 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 developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. [-]
generalized epilepsy with febrile seizures plus 4	generalized epilepsy with febrile seizures plus ty.. [+] generalized epilepsy with febrile seizures plus type 4; generalised epilepsy with febrile seizures plus type 4; generalised epilepsy with febrile seizures plus 4; GEFSP4; GEFS+4 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. [-]
generalized epilepsy with febrile seizures plus 2	generalised epilepsy with febrile seizures plus 2; .. [+] generalised epilepsy with febrile seizures plus 2; generalized epilepsy with febrile seizures plus type 2; generalised epilepsy with febrile seizures plus type 2; GEFSP2; GEFS+2 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. [-]
generalized epilepsy with febrile seizures plus 7	GEFSP7; generalized epilepsy with febrile seizures.. [+] GEFSP7; generalized epilepsy with febrile seizures plus type 7; generalised epilepsy with febrile seizures plus type 7; generalised epilepsy with febrile seizures plus 7; GEFS+7 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. [-]
generalized epilepsy with febrile seizures plus 10	GEFS+10; generalized epilepsy with febrile seizure.. [+] GEFS+10; generalized epilepsy with febrile seizures plus type 10; generalised epilepsy with febrile seizures plus type 10; generalised epilepsy with febrile seizures plus 10; GEFSP10 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. [-]
generalized epilepsy with febrile seizures plus 8	generalized epilepsy with febrile seizures plus ty.. [+] generalized epilepsy with febrile seizures plus type 8; generalised epilepsy with febrile seizures plus type 8; generalised epilepsy with febrile seizures plus 8; GEFSP8; GEFS+8 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. [-]
generalized epilepsy with febrile seizures plus 6	generalized epilepsy with febrile seizures plus ty.. [+] generalized epilepsy with febrile seizures plus type 6; generalised epilepsy with febrile seizures plus type 6; generalised epilepsy with febrile seizures plus 6; GEFSP6; GEFS+6 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. [-]
generalized epilepsy with febrile seizures plus 9	generalized epilepsy with febrile seizures plus ty.. [+] generalized epilepsy with febrile seizures plus type 9; generalised epilepsy with febrile seizures plus type 9; generalised epilepsy with febrile seizures plus 9; GEFSP9; GEFS+9 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. [-]
generalized epilepsy with febrile seizures plus 1	GEFSP1; generalized epilepsy with febrile seizures.. [+] GEFSP1; generalized epilepsy with febrile seizures plus type 1; generalised epilepsy with febrile seizures plus type 1; generalised epilepsy with febrile seizures plus 1; GEFS+1 [-]	A generalized epilepsy with febrile seizures plus ..[+] A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. [-]
GRACILE syndrome	growth retardation, amino aciduria, cholestasis, i.. [+] growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; Fellman disease; Finnish lethal neonatal metabolic syndrome; FLNMS; Finnish lactic acidosis with hepatic hemosiderosis [-]	A mitochondrial disorder characterized by fetal gr..[+] A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
galactose epimerase deficiency	GALE deficiency; GALE-D; galactosemia type 3; gala.. [+] galactosemia type 3; GALE-D; GALE deficiency; galactosemia III; epimerase deficiency galactosemia; UDP-galactose-4-epimerase deficiency; uridine diphosphate galactose-4-epimerase deficiency [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11. [-]

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