Disease Name Symbol Acronym
G6pc3 Deficiency G6P001
G6pd-Related Altered Drug Metabolism G6P002
Gaba Aminotransferase Deficiency GBM001 ABAT
Gaba-Transaminase Deficiency GBT001 GABATD
Gabra1-Related Juvenile Myoclonic Epilepsy GBR001
Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus GBR002
Gabrd-Related Juvenile Myoclonic Epilepsy GBR003
Gabrg2-Related Dravet Syndrome GBR004
Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus GBR005
Gadl1-Related Altered Drug Metabolism GDL002
Gait Apraxia GTP001
Galactokinase Deficiency with Cataracts GLC010 GALCT2
Galactorrhoea-Hyperprolactinaemia GLC025
Galactose Epimerase Deficiency GLC011 EDG
Galactosemia GLC006 GALCT
Galactosialidosis GLC012 GSL
Gallbladder Adenocarcinoma GLL017
Gallbladder Adenoma GLL029
Gallbladder Cancer GLL018
Gallbladder Disease GLL020
Gallbladder Disease 1 GLL024 GBD1
Gallbladder Disease 2 GLL025
Gallbladder Disease 3 GLL026
Gallbladder Disease 4 GLL027 GBD4
Gallbladder Leiomyoma GLL011
Gallbladder Leiomyosarcoma GLL016
Gallbladder Lymphoma GLL013
Gallbladder Melanoma GLL012
Gallbladder Papillary Carcinoma GLL004
Gallbladder Sarcoma GLL021
Gallbladder Signet Ring Cell Adenocarcinoma GLL009
Gallbladder Small Cell Carcinoma GLL007
Gallbladder Squamous Cell Carcinoma GLL015
Galloway-Mowat Syndrome GLL032 GAMOS
Gamma Heavy Chain Disease GMM003
Gamma-Amino Butyric Acid Metabolism Disorder GMM004
Gamma-Cystathionase Deficiency GMM005
Gangliocytoma GNG005
Ganglioglioma GNG004
Ganglioneuroblastoma GNG008
Ganglioneuroma GNG002
Gangliosidosis Gm1 GNG001
Gangliosidosis Gm2 GNG010
Gapo Syndrome GPS001 GAPO
Gars-Associated Axonal Neuropathy GRS004
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
Gastric Cancer Risk After H. Pylori Infection GST063 HDGC
Gastric Cancer, Somatic GST060
Gastric Cardia Adenocarcinoma GST029
Gastric Cardia Carcinoma GST041
Gastric Diffuse Adenocarcinoma GST042
Gastric Dilatation GST007
Gastric Gastrinoma GST031
Gastric Leiomyoma GST006
Gastric Leiomyosarcoma GST036
Gastric Liposarcoma GST011
Gastric Lymphoma GST027
Gastric Neuroendocrine Neoplasm GST004
Gastric Neuroendocrine Tumor GST100 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
Gastrin Secretion Abnormality GST003
Gastrinoma GST030
Gastritis GST044
Gastritis, Familial Giant Hypertrophic GST095
Gastroduodenal Crohn's Disease GST090
Gastroduodenitis GST039
Gastroenteritis GST045
Gastroesophageal Junction Adenocarcinoma GST012
Gastroesophageal Reflux GST092 GERD
Gastrointestinal Adenoma GST038
Gastrointestinal Allergy GST078
Gastrointestinal Anthrax GST046
Gastrointestinal Carcinoma GST071
Gastrointestinal Defects and Immunodeficiency Syndrome GST093 GIDID
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
Gastrojejunal Ulcer GST013
Gastroparesis GST037
Gastroschisis GST009
Gata1-Related Cytopenia GT1004
Gata1-Related Diamond-Blackfan Anemia GT1008
Gata1-Related Thrombocytopenia GT1006
Gata1-Related Thrombocytopenia with Beta-Thalassemia GT1007 XLTT
Gata1-Related X-Linked Cytopenia GT1001
Gatad1-Related Dilated Cardiomyopathy GTD003
Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification GCH019
Gaucher Disease, Atypical GCH014 AGD
Gaucher Disease, Perinatal Lethal GCH018 GDPL
Gaucher Disease, Type I GCH015 GD
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, Horizontal, with Progressive Scoliosis GZP002 HGPPS
Gba-Related Parkinson Disease Susceptibility GBR006
Gbe1-Related Disorders GB1001
Gcgr-Related Hyperglucagonemia GCG001
Gck-Related Hyperinsulinism GCK001
Gck-Related Permanent Neonatal Diabetes Mellitus GCK002
Gcm2-Related Familial Isolated Hypoparathyroidism GCM001
Gcsh-Related Glycine Encephalopathy GCS001
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy GDP002
Gdf2-Related Hereditary Hemorrhagic Telangiectasia GDF001
Gdnf-Related Hirschsprung Disease GDN001
Geleophysic Dysplasia GLP001
Geleophysic Dysplasia 1 GLP003 GPHYSD1
Geleophysic Dysplasia 2 GLP004 GPHYSD2
Gemistocytic Astrocytoma GMS001
Gender Identity Disorder GND002
Generalized Anxiety Disorder GNR004
Generalized Atherosclerosis GNR003
Generalized Dystonia GNR032
Generalized Epilepsy and Paroxysmal Dyskinesia GNR006 GEPD
Generalized Epilepsy with Febrile Seizures Plus GNR002 GEFS+
Generalized Epilepsy with Febrile Seizures Plus, Type 9 GNR034 GEFSP9
Generalized Eruptive Histiocytosis GNR023
Generalized Galactose Epimerase Deficiency GNR029
Generalized Resistance to Thyroid Hormone GNR008 GRTH
Genetic Hyperferritinemia Without Iron Overload GNT037
Genetic Prion Diseases GNT033 TSES
Genetic Recurrent Myoglobinuria GNT042
Genetic Transient Congenital Hypothyroidism GNT039
Geniculate Herpes Zoster GNC003
Geniospasm 1 GNS004
Genital Herpes GNT003
Genitopatellar Syndrome GNT031 GTPTS
Geographic Tongue GGR001
Germ Cell and Embryonal Cancer GRM001
Geroderma Osteodysplastica GRD006 GO
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 HYDM
Gestational Trophoblastic Tumor GST059 GTN
Gfpt1-Related Congenital Myasthenic Syndrome GFP001
Ghosal Hematodiaphyseal Syndrome GHS004 GHDD
Giant Axonal Neuropathy GNT009 GAN
Giant Axonal Neuropathy 2, Autosomal Dominant GNT040 GAN2
Giant Axonal Neuropathy-1 GNT027 GAN1
Giant Cell Glioblastoma GNT002
Giant Cell Myocarditis GNT019 GCM
Giant Cell Reparative Granuloma GNT001
Giant Cell Tumor GNT008
Giant Hemangioma GNT005
Giant Papillary Conjunctivitis GNT006 GPC
Giardiasis GRD001
Gigantism GGN002
Gigyf2-Related Parkinson Disease GGY001
Gilbert Syndrome GLB001 GILBS
Gilles De La Tourette Syndrome GLL008 GTS
Gillespie Syndrome GLL028 GLSP
Gingival Disease GNG011
Gingival Fibromatosis GNG025
Gingival Hypertrophy GNG006
Gingival Overgrowth GNG012
Gingival Recession GNG003
Gingivitis GNG013
Gitelman Syndrome GTL001 GTLMNS
Gja5-Related Familial Atrial Fibrillation GJ5001
Gjb2-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness GJB001
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness GJB002
Gjb3-Related Erythrokeratodermia Variabilis GJB003
Gjb4-Related Erythrokeratodermia Variabilis GJB004
Gjb6-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness GJB005
Gjb6-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness GJB006
Gjc2-Related Disorders GJC001
Glanders GLN002
Glandular Cystitis GLN006
Glandular Tularemia GLN001
Glanzmann Thrombasthenia GLN010 GT
Glass Syndrome GLS018
Glassy Cell Carcinoma of the Cervix GLS012
Glaucoma 1, Open Angle, 1o GLC059 GLC1O
Glaucoma 1, Open Angle, E GLC062 GLC1E
Glaucoma 1, Open Angle, F GLC078 GLC1F
Glaucoma 1, Open Angle, G GLC060 GLC1G
Glaucoma 1, Open Angle, H GLC076
Glaucoma 1, Open Angle, I GLC048
Glaucoma 1, Open Angle, M GLC051
Glaucoma 1, Open Angle, N GLC080
Glaucoma 1, Open Angle, P GLC079 GLC1P
Glaucoma 1a, Primary Open Angle GLC074 GLC1A
Glaucoma 3, Primary Congenital, C GLC052
Glaucoma 3, Primary Congenital, D GLC054 GLC3D
Glaucoma 3, Primary Congenital, E GLC089 GLC3E
Glaucoma 3, Primary Infantile, B GLC083
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset GLC075 GLC3A
Glaucoma, Hereditary GLC032
Glaucoma, Normal Tension GLC084 NPG
Glaucoma, Primary Open Angle, Juvenile-Onset, 2 GLC049
Glaucomatocyclitic Crisis GLC001
Glb1-Related Disorders GLB016
Gldc-Related Glycine Encephalopathy GLD004
Gli2-Related Holoprosencephaly GL2001 HPE9
Gli3-Related Disorders GL3001
Glioblastoma GLB002 GBM
Glioblastoma 3 GLB007 GLM3
Glioblastoma Multiforme GLB015 GBM
Gliofibroma GLF001
Glioma GLM045
Glioma Susceptibility 1 GLM040 GLM
Glioma Susceptibility 2 GLM025 GLM2
Glioma Susceptibility 4 GLM019
Glioma Susceptibility 5 GLM020
Glioma Susceptibility 6 GLM021
Glioma Susceptibility 7 GLM038
Glioma Susceptibility 8 GLM022
Glioma Susceptibility 9 GLM043 GLM9
Gliomatosis Cerebri GLM004
Gliomatosis Peritonei GLM036
Gliosarcoma GLS001
Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome GLB017
Globe Disease GLB003
Glomangioma GLM006
Glomangiomatosis GLM002
Glomangiomyoma GLM003
Glomangiosarcoma GLM005
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria GLM024 GCKDHI
Glomeruloid Hemangioma GLM001
Glomerulonephritis GLM007
Glomerulopathy with Fibronectin Deposits 1 GLM014 GFND1
Glomerulopathy with Fibronectin Deposits 2 GLM015 GFND2
Glomerulosclerosis, Focal Segmental, 1 GLM029 FSGS1
Glomerulosclerosis, Focal Segmental, 2 GLM026 FSGS2
Glomerulosclerosis, Focal Segmental, 3 GLM027 FSGS3
Glomerulosclerosis, Focal Segmental, 4 GLM033 FSGS4
Glomerulosclerosis, Focal Segmental, 5 GLM028 FSGS5
Glomerulosclerosis, Focal Segmental, 6 GLM039 FSGS6
Glomerulosclerosis, Focal Segmental, 7 GLM041 FSGS7
Glomus Tumor GLM008
Glomuvenous Malformations GLM012 GVMS
Glossitis GLS007
Glossopharyngeal Nerve Disease GLS008
Glossopharyngeal Neuralgia GLS004
Glottis Squamous Cell Carcinoma GLT004
Glra1-Related Hyperekplexia GLR001
Glrb-Related Hyperekplexia GLR002
Glucagonoma GLC036
Glucocorticoid Deficiency 2 GLC043 GCCD2
Glucocorticoid Deficiency 3 GLC053
Glucocorticoid Deficiency 4 GLC073 GCCD4
Glucocorticoid Deficiency, Due to Acth Unresponsiveness GLC055 GCCD1
Glucocorticoid Resistance GLC037 GCCR
Glucocorticoid Therapy, Response to GLC077
Glucocorticoid-Induced Osteoporosis GLC086
Glucose Intolerance GLC003
Glucose Metabolism Disease GLC008
Glucose Phosphate Isomerase Deficiency GLC081
Glucose Transporter Type 1 Deficiency Syndrome GLC024 GTPS
Glucose/galactose Malabsorption GLC022 GGM
Glucosephosphate Dehydrogenase Deficiency GLC009
Glucosephosphate Isomerase Deficiency GLC039
Glud1-Related Hyperinsulinism GLD005
Glut1 Deficiency Syndrome 1 GLT018 GLUT1DS1
Glut1 Deficiency Syndrome 2 GLT019 GLUT1DS2
Glutamate Formiminotransferase Deficiency GLT005 FIGLU-URIA
Glutamine Deficiency, Congenital GLT011 CSGD
Glutaric Acidemia Iic GLT023 GA2A
Glutaric Acidemia Type Iii GLT029
Glutaric Aciduria Iii GLT028 GA3
Glutaricaciduria, Type I GLT021 GA1
Glutathione Synthetase Deficiency GLT007 GSS DEFICIENCY
Glutathionuria GLT014 GLUTH
Gluten Allergy GLT030
Glycerol Kinase Deficiency GLY014 GKD
Glycerol Kinase Deficiency, Adult Form GLY046
Glycerol Kinase Deficiency, Infantile Form GLY048
Glycerol Kinase Deficiency, Juvenile Form GLY049
Glycine Encephalopathy GLY010 NKH
Glycine Encephalopathy with Normal Serum Glycine GLY094 GCENSG
Glycine N-Methyltransferase Deficiency GLY015 GNMT DEFICIENCY
Glycogen Storage Disease GLY013
Glycogen Storage Disease 0, Liver GLY058 GSD0
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 GLY081
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 Iiia GLY019 GSD3
Glycogen Storage Disease Iv GLY007 GSD4
Glycogen Storage Disease Ix GLY001
Glycogen Storage Disease Ixc GLY044 GSD9C
Glycogen Storage Disease of Heart, Lethal Congenital GLY033 GSDH
Glycogen Storage Disease Type 0 GLY023 GSD 0
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 Storage Disease, Type Ixa1 GLY040 GSD9A
Glycogen-Rich Clear Cell Breast Carcinoma GLY012
Glycoprotein Ia Deficiency GLY021
Glycoproteinosis GLY031
Glycosylphosphatidylinositol Deficiency GLY032 GPID
Gm1-Gangliosidosis, Type I GM1004 GM1G1
Gm1-Gangliosidosis, Type Ii GM1005 GM1G2
Gm1-Gangliosidosis, Type Iii GM1006 GM1G3
Gm2-Gangliosidosis, Ab Variant GM2005 GM2GAB
Gnas Hyperfunction GNS003 GNASHYP
Gnathodiaphyseal Dysplasia GNT026 GDD
Gnathomiasis GNT004
Gne-Related Myopathy GNR020 DMRV
Gnptab-Related Mucolipidoses GNP001
Gnrh1-Related Isolated Gonadotropin-Releasing Hormone Deficiency GNR018
Gnrhr-Related Isolated Gonadotropin-Releasing Hormone Deficiency GNR011
Goat Milk Allergy GTM001
Goblet Cell Carcinoid GBL002 GCC
Goiter GTR002
Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors GTR011 MNG1
Goldberg-Shprintzen Megacolon Syndrome GLD002 GOSHS
Goldmann-Favre Syndrome GLD003
Gonadal Disease GND003
Gonadal Dysgenesis GND004
Gonadoblastoma GND001
Good Syndrome GDS001
Goodpasture Syndrome GDP001
Gorham's Disease GRH001
Gosr2-Related Progressive Myoclonus Ataxia GSR001 EPM6
Gout GT001 GOUT
Gout Susceptibility 4 GTS002
Gout, Hprt1-Related GTH001
Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 GPC001
Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1 GPC002
Gphn-Related Hyperekplexia GPH001
Gracile Bone Dysplasia GRC002 GCLEB
Gracile Syndrome GRC001 GRACILE
Grade Iii Astrocytoma GRD007
Graft-Versus-Host Disease, Protection Against GRF001 GVH
Graham-Little-Piccardi-Lassueur Syndrome GRH005
Granular Cell Leiomyosarcoma GRN012
Granular Cell Tumor GRN010
Granulocytopenia GRN017
Granuloma Annulare GRN007
Granuloma Inguinale GRN005
Granulomatous Amebic Encephalitis GRN004
Granulomatous Angiitis GRN006
Granulomatous Dermatitis GRN003
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii GRN038 CGD3
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 1 GRV008
Graves Disease 2 GRV009
Graves' Disease GRV001
Gray Platelet Syndrome GRY002 GPS
Gray Zone Lymphoma GRY001
Greenberg Skeletal Dysplasia GRN039 GRBGD
Greig Cephalopolysyndactyly Syndrome GRG001 GCPS
Grik4-Related Altered Drug Metabolism GRK001
Grin2a-Related Speech Disorders and Epilepsy GRN041
Grip1-Related Fraser Syndrome GRP006
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 Dementia GRN014 FTLD
Grover's Disease GRV012 TAD
Growth Hormone Deficiency GRW007
Growth Hormone Deficiency, Isolated Partial GRW023 GHDP
Growth Hormone Deficiency, Isolated, Type Ia GRW015 IGHD1A
Growth Hormone Deficiency, Isolated, Type Ib GRW016 IGHD1B
Growth Hormone Deficiency, Isolated, Type Ii GRW024 IGHD2
Growth Hormone Insensitivity with Immunodeficiency GRW003 GHII
Growth Hormone Insensitivity, Partial GRW026 GHIP
Growth Restriction, Severe, with Distinctive Facies GRW027 GRDF
Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency GRW004 IGF1 DEFICIENCY
Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome GRW022
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death GRW012
Growth Retardation, Developmental Delay, Facial Dysmorphism GRW028 GDFD
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy GRW035 GRIDHH
Gtdc2-Related Muscle Diseases GTD001
Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia GTP002 DYT5
Gtp Cyclohydrolase 1-Related Disorders GTP005
Gtp Cyclohydrolase I Deficiency GTP003
Guca1b-Related Retinitis Pigmentosa GC1001
Gucy2d-Related Leber Congenital Amaurosis GCY001
Guillain-Barre Syndrome GLL022 GBS
Gum Cancer GMC001
Gummatous Syphilis GMM001
Gustavson Syndrome GST054
Guttate Psoriasis GTT002
Guttmacher Syndrome GTT001 GUTTS
Gynandroblastoma GYN003
Gynecomastia GYN001
Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia GYR003 HOGA
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