Disease Name Symbol Acronym
G6pc3 Deficiency G6P001
Gaba Aminotransferase Deficiency GBM001 ABAT
Gaba-Transaminase Deficiency GBT001 GABATD
Gabriele-De Vries Syndrome GBR007 GADEVS
Gait Apraxia GTP001
Galactorrhea GLC096
Galactosemia I GLC113 GALAC1
Galactosemia Ii GLC111 GALAC2
Galactosemia Iii GLC112 GALAC3
Galactosemia Iv GLC115 GALAC4
Galactosialidosis GLC012 GSL
Gallbladder Adenocarcinoma GLL017
Gallbladder Adenoma GLL029
Gallbladder Angiosarcoma GLL002
Gallbladder Benign Neoplasm GLL051
Gallbladder Cancer GLL018
Gallbladder Carcinoma in Situ GLL050
Gallbladder Disease GLL020
Gallbladder Disease 1 GLL024 GBD1
Gallbladder Disease 2 GLL025 GBD2
Gallbladder Disease 3 GLL026 GBD3
Gallbladder Disease 4 GLL027 GBD4
Gallbladder Leiomyoma GLL011
Gallbladder Leiomyosarcoma GLL016
Gallbladder Lymphoma GLL013
Gallbladder Melanoma GLL012
Gallbladder Papillary Carcinoma GLL004
Gallbladder Papillomatosis GLL006
Gallbladder Sarcoma GLL021
Gallbladder Signet Ring Cell Adenocarcinoma GLL009
Gallbladder Small Cell Carcinoma GLL007
Gallbladder Squamous Cell Carcinoma GLL015
Galloway-Mowat Syndrome GLL032
Galloway-Mowat Syndrome 1 GLL038 GAMOS1
Galloway-Mowat Syndrome 10 GLL053 GAMOS10
Galloway-Mowat Syndrome 2 GLL043
Galloway-Mowat Syndrome 2, X-Linked GLL039 GAMOS2
Galloway-Mowat Syndrome 3 GLL040 GAMOS3
Galloway-Mowat Syndrome 4 GLL041 GAMOS4
Galloway-Mowat Syndrome 5 GLL042 GAMOS5
Galloway-Mowat Syndrome 6 GLL045 GAMOS6
Galloway-Mowat Syndrome 7 GLL046 GAMOS7
Galloway-Mowat Syndrome 8 GLL047 GAMOS8
Galloway-Mowat Syndrome 9 GLL052 GAMOS9
Gamma Heavy Chain Disease GMM003
Gamma-Amino Butyric Acid Metabolism Disorder GMM004
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to GMM011 HAGGSD
Gand Syndrome GND017 GAND
Gangliocytoma GNG005
Ganglioglioma GNG004
Ganglioneuroblastoma GNG008
Ganglioneuroma GNG002
Gangliosidosis GNG009
Gapo Syndrome GPS001 GAPOS
Gas Gangrene GSG001
Gastric Adenocarcinoma GST040
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach GST086 GAPPS
Gastric Adenosquamous Carcinoma GST008
Gastric Antral Vascular Ectasia GST020 GAVE
Gastric Body Carcinoma GST025
Gastric Cancer GST053 GASC
Gastric Cardia Adenocarcinoma GST029
Gastric Cardia Carcinoma GST041
Gastric Diffuse Adenocarcinoma GST042
Gastric Dilatation GST007
Gastric Fundus Cancer GST026
Gastric Gastrinoma GST031
Gastric Hemangioma GST005
Gastric Leiomyoma GST006
Gastric Leiomyosarcoma GST036
Gastric Liposarcoma GST011
Gastric Lymphoma GST027
Gastric Neuroendocrine Neoplasm GST004 GNET
Gastric Papillary Adenocarcinoma GST032
Gastric Signet Ring Cell Adenocarcinoma GST016
Gastric Small Cell Carcinoma GST015
Gastric Squamous Cell Carcinoma GST028
Gastric Teratoma GST043
Gastric Tubular Adenocarcinoma GST017
Gastric Ulcer GST023
Gastrinoma GST030
Gastritis GST044
Gastritis, Familial Giant Hypertrophic GST095
Gastroduodenal Crohn's Disease GST090
Gastroduodenitis GST039
Gastroenteritis GST045
Gastroesophageal Adenocarcinoma GST105
Gastroesophageal Junction Adenocarcinoma GST012
Gastroesophageal Reflux GST092 GER
Gastrointestinal Adenoma GST038
Gastrointestinal Anthrax GST046
Gastrointestinal Carcinoma GST071
Gastrointestinal Defects and Immunodeficiency Syndrome 1 GST112 GIDID1
Gastrointestinal Defects and Immunodeficiency Syndrome 2 GST113 GIDID2
Gastrointestinal Lymphoma GST014
Gastrointestinal Neuroendocrine Benign Tumor GST091
Gastrointestinal Neuroendocrine Tumor GST047
Gastrointestinal Stromal Tumor GST019 GIST
Gastrointestinal System Benign Neoplasm GST048
Gastrointestinal System Cancer GST049
Gastrointestinal System Disease GST050
Gastrointestinal Tuberculosis GST051
Gastrointestinal Tularemia GST018
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets GST106 GURDP
Gastrojejunal Ulcer GST013
Gastroparesis GST037
Gastroschisis GST009
Gatad2b-Associated Neurodevelopmental Disorder GTD002
Gaucher Disease, Atypical, Due to Saposin C Deficiency GCH010 GDSAPC
Gaucher Disease, Perinatal Lethal GCH018 GDPL
Gaucher Disease, Type I GCH015 GD1
Gaucher Disease, Type Ii GCH016 GD2
Gaucher Disease, Type Iii GCH017 GD3
Gaucher Disease, Type Iiic GCH013 GD3C
Gaucher's Disease GCH001 GD
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 GZP005 HGPPS1
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development GZP006 HGPPS2
Geleophysic Dysplasia GLP001
Geleophysic Dysplasia 1 GLP003 GPHYSD1
Geleophysic Dysplasia 2 GLP004 GPHYSD2
Geleophysic Dysplasia 3 GLP007 GPHYSD3
Gemistocytic Astrocytoma GMS001
Gender Incongruence GND019
Gene Duplication Disease GND018
Gene Expression, Variation in, Quantitative Trait Locus on Chromosome 14 GNX002 GEVQ1
Gene Expression, Variation in, Quantitative Trait Locus on Chromosome 20 GNX003 GEVQ2
Generalized Anxiety Disorder GNR004
Generalized Atherosclerosis GNR003
Generalized Epilepsy with Febrile Seizures Plus GNR002 GEFS+
Generalized Epilepsy with Febrile Seizures Plus, Type 1 GNR038 GEFSP1
Generalized Epilepsy with Febrile Seizures Plus, Type 10 GNR046 GEFSP10
Generalized Epilepsy with Febrile Seizures Plus, Type 2 GNR039 GEFSP2
Generalized Epilepsy with Febrile Seizures Plus, Type 4 GNR040 GEFSP4
Generalized Epilepsy with Febrile Seizures Plus, Type 6 GNR013 GEFSP6
Generalized Epilepsy with Febrile Seizures Plus, Type 7 GNR043 GEFSP7
Generalized Epilepsy with Febrile Seizures Plus, Type 8 GNR042 GEFSP8
Generalized Epilepsy with Febrile Seizures Plus, Type 9 GNR034 GEFSP9
Generalized Juvenile Polyposis/juvenile Polyposis Coli GNR035
Generalized Lymphatic Anomaly GNR050
Genetic Atypical Hemolytic-Uremic Syndrome GNT044
Genetic Hyperferritinemia Without Iron Overload GNT037
Genetic Motor Neuron Disease GNT176
Genetic Nephrotic Syndrome GNT182
Genetic Non-Acquired Premature Ovarian Failure GNT162
Genetic Recurrent Myoglobinuria GNT042
Genetic Steroid-Resistant Nephrotic Syndrome GNT179 SRN1
Genetic Transient Congenital Hypothyroidism GNT039
Geniculate Ganglionitis GNC005
Geniospasm 1 GNS004 GSM1
Genital Herpes GNT003
Genitopatellar Syndrome GNT031 GTPTS
Genitourinary and/or Brain Malformation Syndrome GNT184 GUBS
Genitourinary Tract Anomalies GNT050
Genuine Diffuse Phlebectasia GNN001
Geographic Tongue GGR001
Geotrichosis GTR001
Germ Cell and Embryonal Cancer GRM001
Germ Cell Cancer GRM005
Germ Cell Tumor GRM002
Germinoma GRM004
Geroderma Osteodysplasticum GRD005 GO
Gerstmann Syndrome GRS001 GS
Gerstmann-Straussler Disease GRS011 GSD
Gestational Choriocarcinoma GST052
Gestational Diabetes GST033 GDM
Gestational Diabetes Insipidus GST058
Gestational Ovarian Choriocarcinoma GST035
Gestational Trophoblastic Neoplasm GST010 GTN
Ghosal Hematodiaphyseal Dysplasia GHS005 GHDD
Giant Axonal Neuropathy 1, Autosomal Recessive GNT049 GAN1
Giant Axonal Neuropathy 2 GNT045
Giant Axonal Neuropathy 2, Autosomal Dominant GNT040 GAN2
Giant Cell Glioblastoma GNT002
Giant Cell Reparative Granuloma GNT001
Giant Hemangioma GNT005
Giant Papillary Conjunctivitis GNT006 GPC
Giardiasis GRD001
Gilbert Syndrome GLB001 GILBS
Gilles De La Tourette Syndrome GLL008 GTS
Gillespie Syndrome GLL028 GLSP
Gillessen-Kaesbach-Nishimura Syndrome GLL035 GIKANIS
Gingival Disease GNG011
Gingival Fibromatosis GNG025
Gingival Hypertrophy GNG006
Gingival Overgrowth GNG012
Gingival Recession GNG003
Gingivitis GNG013
Gist-Plus Syndrome GST108 GISTPS
Gitelman Syndrome GTL001 GTLMNS
Glanders GLN002 FARCE
Glandular Cystitis GLN006
Glandular Tularemia GLN001
Glans Penis Cancer GLN007
Glanzmann Thrombasthenia 1 GLN011 GT1
Glanzmann Thrombasthenia 2 GLN012 GT2
Glass Syndrome GLS018 GLASS
Glaucoma 1, Open Angle, a GLC041 GLC1A
Glaucoma 1, Open Angle, B GLC101 GLC1B
Glaucoma 1, Open Angle, D GLC100 GLC1D
Glaucoma 1, Open Angle, F GLC078 GLC1F
Glaucoma 1, Open Angle, G GLC060 GLC1G
Glaucoma 1, Open Angle, H GLC076 GLC1H
Glaucoma 1, Open Angle, I GLC048 GLC1I
Glaucoma 1, Open Angle, J GLC102 GLC1J
Glaucoma 1, Open Angle, K GLC103 GLC1K
Glaucoma 1, Open Angle, M GLC051 GLC1M
Glaucoma 1, Open Angle, N GLC080 GLC1N
Glaucoma 1, Open Angle, O GLC104 GLC1O
Glaucoma 1, Open Angle, P GLC079 GLC1P
Glaucoma 1, Primary Open Angle, C GLC099 GLC1C
Glaucoma 3, Primary Congenital, a GLC097 GLC3A
Glaucoma 3, Primary Congenital, C GLC052 GLC3C
Glaucoma 3, Primary Congenital, D GLC054 GLC3D
Glaucoma 3, Primary Congenital, E GLC089 GLC3E
Glaucoma 3, Primary Infantile, B GLC083 GLC3B
Glaucoma, Normal Tension GLC084 NPG
Glaucoma, Primary Closed-Angle GLC114 GLCC
Glaucoma, Primary Open Angle GLC092 POAG
Glaucomatocyclitic Crisis GLC001
Glb1-Related Disorders GLB016
Glioblastoma GLB002 GBM
Glioblastoma Classical Subtype GLB011
Glioblastoma Mesenchymal Subtype GLB013
Glioblastoma Neural Subtype GLB014
Glioblastoma Proneural Subtype GLB012
Gliofibroma GLF001
Glioma GLM045
Glioma Susceptibility 1 GLM040 GLM1
Glioma Susceptibility 2 GLM025 GLM2
Glioma Susceptibility 3 GLM047 GLM3
Glioma Susceptibility 4 GLM019 GLM4
Glioma Susceptibility 5 GLM020 GLM5
Glioma Susceptibility 6 GLM021 GLM6
Glioma Susceptibility 7 GLM038 GLM7
Glioma Susceptibility 8 GLM022 GLM8
Glioma Susceptibility 9 GLM043 GLM9
Gliomatosis Cerebri GLM004
Gliosarcoma GLS001
Global Developmental Delay with or Without Impaired Intellectual Development GLB025 GDDI
Global Developmental Delay with Speech and Behavioral Abnormalities GLB029 GDSBA
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies GLB021 GDACCF
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLB024 GLOW
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine GLB026 GDPAG
Glomangioma GLM006
Glomangiomatosis GLM002
Glomangiomyoma GLM003
Glomangiosarcoma GLM005
Glomerular Disease GLM044
Glomeruloid Hemangioma GLM001
Glomerulonephritis GLM007
Glomerulopathy with Fibronectin Deposits 1 GLM014 GFND1
Glomerulopathy with Fibronectin Deposits 2 GLM015 GFND2
Glomus Tumor GLM008
Glomuvenous Malformations GLM012 GVM
Glossitis GLS007
Glossopharyngeal Nerve Disease GLS008
Glossopharyngeal Nerve Neoplasm GLS002
Glossopharyngeal Nerve Paralysis GLS003
Glossopharyngeal Neuralgia GLS004
Glottis Squamous Cell Carcinoma GLT004
Glucagonoma GLC036
Glucocorticoid Deficiency 1 GLC042 GCCD1
Glucocorticoid Deficiency 2 GLC043 GCCD2
Glucocorticoid Deficiency 3 GLC053 GCCD3
Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency GLC105 GCCD4
Glucocorticoid Deficiency 5 GLC107 GCCD5
Glucocorticoid Resistance, Generalized GLC106 GCCR
Glucocorticoid Therapy, Response to GLC077 GCTR
Glucocorticoid-Induced Osteoporosis GLC086
Glucose Intolerance GLC003
Glucose Metabolism Disease GLC008
Glucose Transporter Type 1 Deficiency Syndrome GLC024 GTPS
Glucose/galactose Malabsorption GLC022 GGM
Glucose-6-Phosphate Translocase Deficiency GLC038
Glucosephosphate Dehydrogenase Deficiency GLC009
Glut1 Deficiency Syndrome 1 GLT018 GLUT1DS1
Glut1 Deficiency Syndrome 2 GLT019 GLUT1DS2
Glutamate Formiminotransferase Deficiency GLT005 FIGLU-URIA
Glutamate-Cysteine Ligase Deficiency GLT040
Glutamine Deficiency, Congenital GLT011 CSGD
Glutaric Acidemia I GLT035 GA1
Glutaric Aciduria Iii GLT028 GA3
Glutathione Peroxidase Deficiency GLT039 GPXD
Glutathione Synthetase Deficiency GLT007 GSSD
Glutathione Synthetase Deficiency of Erythrocytes GLT042
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to GLT036 GSSDE
Glutathionuria GLT014 GLUTH
Gluten Allergy GLT030
Glycerol Kinase Deficiency GLY014 GKD
Glycerol Quantitative Trait Locus GLY102 GLYCQTL
Glycine Encephalopathy GLY010 GCE
Glycine Encephalopathy with Normal Serum Glycine GLY094 GCENSG
Glycine N-Methyltransferase Deficiency GLY015 GNMT DEFICIENCY
Glycogen Storage Disease GLY013 GSD
Glycogen Storage Disease 0, Liver GLY058 GSD0A
Glycogen Storage Disease 0, Muscle GLY061 GSD0B
Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset GLY052
Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset GLY074
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib GLY111 GSDIB
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency GLY078
Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency GLY065 XLG
Glycogen Storage Disease Ia GLY060 GSD1A
Glycogen Storage Disease Ib GLY016 GSD1B
Glycogen Storage Disease Ic GLY017 GSD1C
Glycogen Storage Disease Ii GLY008 GSD2
Glycogen Storage Disease Iii GLY003 GSD3
Glycogen Storage Disease Iv GLY007 GSD4
Glycogen Storage Disease Ix GLY001
Glycogen Storage Disease Ixa GLY093
Glycogen Storage Disease Ixa1 GLY099 GSD9A1
Glycogen Storage Disease Ixb GLY097 GSD9B
Glycogen Storage Disease Ixc GLY044 GSD9C
Glycogen Storage Disease Ixd GLY115 GSD9D
Glycogen Storage Disease of Heart, Lethal Congenital GLY033 GSDH
Glycogen Storage Disease Type 0 GLY023 GSD 0
Glycogen Storage Disease V GLY004 GSD5
Glycogen Storage Disease Vi GLY005 GSD6
Glycogen Storage Disease Vii GLY011 GSD7
Glycogen Storage Disease Viii GLY006 PYKL
Glycogen Storage Disease X GLY057 GSD10
Glycogen Storage Disease Xii GLY043 GSD12
Glycogen Storage Disease Xiii GLY059 GSD13
Glycogen Storage Disease Xv GLY009 GSD15
Glycogen-Rich Carcinoma GLY114
Glycogen-Rich Clear Cell Breast Carcinoma GLY012
Glycoprotein Storage Disease GLY096
Glycoproteinosis GLY031
Glycosylphosphatidylinositol Biosynthesis Defect 1 GLY112 GPIBD1
Glycosylphosphatidylinositol Biosynthesis Defect 11 GLY106 GPIBD11
Glycosylphosphatidylinositol Biosynthesis Defect 15 GLY103 GPIBD15
Glycosylphosphatidylinositol Biosynthesis Defect 16 GLY104 GPIBD16
Glycosylphosphatidylinositol Biosynthesis Defect 17 GLY107 GPIBD17
Glycosylphosphatidylinositol Biosynthesis Defect 25 GLY116 GPIBD25
Gm1 Gangliosidosis GM1007
Gm1-Gangliosidosis, Type I GM1004 GM1G1
Gm1-Gangliosidosis, Type Ii GM1005 GM1G2
Gm1-Gangliosidosis, Type Iii GM1006 GM1G3
Gm2 Gangliosidosis GM2006
Gm2-Gangliosidosis, Ab Variant GM2005 GM2GAB
Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum GN1002
Gnathodiaphyseal Dysplasia GNT026 GDD
Gnathomiasis GNT004
Gnptab-Related Disorders GNP002
Goat Milk Allergy GTM001
Goblet Cell Carcinoid GBL002 GCC
Goiter GTR002
Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors GTR011 MNG1
Goiter, Multinodular 2 GTR013 MNG2
Goiter, Multinodular 3 GTR014 MNG3
Goldberg-Shprintzen Syndrome GLD006 GOSHS
Gonadal Agenesis GND011
Gonadal Dysgenesis GND004
Gonadoblastoma GND001 GBY
Gonococcal Keratitis GNC007
Good Syndrome GDS001
Goodpasture Syndrome GDP001
Gordon Holmes Syndrome GRD009 GDHS
Gorham's Disease GRH001
Gout GT001 GOUT
Gracile Bone Dysplasia GRC002 GCLEB
Gracile Syndrome GRC001 GRACILE
Graft-Versus-Host Disease GRF003 GVHDS
Graham-Little-Piccardi-Lassueur Syndrome GRH005
Grange Syndrome GRN034 GRNG
Granular Cell Carcinoma GRN008
Granular Cell Leiomyosarcoma GRN012
Granular Cell Tumor GRN010
Granular Corneal Dystrophy GRN055
Granulocytopenia GRN017
Granuloma Annulare GRN007
Granuloma Inguinale GRN005
Granulomatosis with Polyangiitis GRN037 GPA
Granulomatous Amebic Encephalitis GRN004
Granulomatous Angiitis GRN006
Granulomatous Dermatitis GRN003
Granulomatous Disease, Chronic, Autosomal Recessive, 1 GRN062 CGD1
Granulomatous Disease, Chronic, Autosomal Recessive, 2 GRN063 CGD2
Granulomatous Disease, Chronic, Autosomal Recessive, 3 GRN064 CGD3
Granulomatous Disease, Chronic, Autosomal Recessive, 4 GRN061 CGD4
Granulomatous Disease, Chronic, Autosomal Recessive, 5 GRN065 CGD5
Granulomatous Disease, Chronic, X-Linked GRN051 CGDX
Granulomatous Endometritis GRN001
Granulomatous Gastritis GRN011
Granulomatous Hepatitis GRN009
Granulomatous Mastitis GRN033
Granulomatous Myositis GRN036
Granulomatous Orchitis GRN002
Granulomatous Slack Skin Disease GRN032
Granulosa Cell Tumor of the Ovary GRN022 GTCT
Graves' Disease GRV001
Graves Disease 1 GRV008 GRD1
Graves Disease 2 GRV009 GRD2
Graves Disease X-Linked 1 GRV013 GRDX1
Graves Ophthalmopathy GRV014
Gray Platelet Syndrome GRY002 GPS
Gray Zone Lymphoma GRY001
Greenberg Dysplasia GRN013 GRBGD
Greig Cephalopolysyndactyly Syndrome GRG001 GCPS
Grin2b-Related Developmental Delay, Intellectual Disability and Autism Spectrum Disorder GRN066
Griscelli Syndrome GRS003 GS
Griscelli Syndrome, Type 1 GRS013 GS1
Griscelli Syndrome, Type 2 GRS014 GS2
Griscelli Syndrome, Type 3 GRS012 GS3
Grn-Related Frontotemporal Lobar Degeneration GRN060 FTLD
Growth Hormone Deficiency GRW007
Growth Hormone Deficiency, Isolated Partial GRW023 GHDP
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 GRW043
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive GRW041 GHISID1
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 GRW044
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant GRW042 GHISID2
Growth Hormone Insensitivity, Partial GRW026 GHIP
Growth Hormone Secreting Pituitary Adenoma GRW001
Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies GRW045 GKAF
Growth Retardation, Developmental Delay, and Facial Dysmorphism GRW039 GDFD
Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy GRW040 GRIDHH
Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome GRW022
Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia GTP002
Guillain-Barre Syndrome GLL022 GBS
Guillain-Barre Syndrome, Familial GLL037 GBS
Gum Cancer GMC001
Gummatous Syphilis GMM001
Gynandroblastoma GYN003
Gynatresia GYN002
Gynecomastia GYN001
Gyrate Atrophy of Choroid and Retina GYR004 GACR
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