Disease Name Symbol Acronym
Gaba Aminotransferase Deficiency GBM001 ABAT
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
Gait Apraxia GTP001
Galactokinase Deficiency GLC004
Galactokinase Deficiency with Cataracts GLC010
Galactosemia GLC006
Galactosialidosis GLC012 GSL
Gallbladder Adenocarcinoma GLL017
Gallbladder Cancer GLL018 GBC
Gallbladder Disease GLL020
Gallbladder Disease 1 GLL024
Gallbladder Disease 2 GLL025
Gallbladder Disease 3 GLL026
Gallbladder Disease 4 GLL027
Gallbladder Lymphoma GLL013
Gallbladder Sarcoma GLL021
Gallbladder Squamous Cell Carcinoma GLL015
Gamma Chain Deficiency GMM002 SCIDX
Gamma Heavy Chain Disease GMM003
Gamma-Cystathionase Deficiency GMM005
Gangliocytoma GNG005
Ganglioglioma GNG004
Ganglioneuroblastoma GNG008
Ganglioneuroma GNG002
Gangliosidosis GNG009
Gangliosidosis Gm1 GNG001
Gangliosidosis Gm2 GNG010
Gapo Syndrome GPS001
Gardner Syndrome GRD002
Gars-Associated Axonal Neuropathy GRS004
Gas Gangrene GSG001
Gastric Adenocarcinoma GST040
Gastric Adenosquamous Carcinoma GST008
Gastric Antral Vascular Ectasia GST020 GAVE
Gastric Cancer Risk After H. Pylori Infection GST063
Gastric Cancer, Familial Diffuse, with or Without Cleft Lip and/or Palate GST062
Gastric Cancer, Somatic GST060
Gastric Cardia Adenocarcinoma GST029
Gastric Cardia Carcinoma GST041
Gastric Diffuse Adenocarcinoma GST042
Gastric Dilatation GST007
Gastric Duplication Cysts GST055
Gastric Endocrine Tumor GST088
Gastric Leiomyoma GST006
Gastric Leiomyosarcoma GST036
Gastric Linitis Plastica GST087
Gastric Lymphoma GST027
Gastric Mucosal Hypertrophy GST002
Gastric Neuroendocrine Neoplasm GST004
Gastric Outlet Obstruction GST064
Gastric Small Cell Carcinoma GST015
Gastric Ulcer GST023
Gastrinoma GST030
Gastritis GST044
Gastroduodenitis GST039
Gastroenteritis GST045
Gastroesophageal Junction Adenocarcinoma GST012
Gastroesophageal Reflux Disease GST034 GERD
Gastrointestinal Adenoma GST038
Gastrointestinal Lymphoma GST014
Gastrointestinal Neuroendocrine Tumor GST047
Gastrointestinal Stromal Tumor GST019 GANT
Gastrointestinal Stromal Tumor, Familial GST089
Gastrointestinal Stromal Tumor, Somatic GST061
Gastrointestinal System Disease GST050
Gastroparesis GST037
Gastroschisis GST009
Gata1-Related Cytopenia GT1004
Gata1-Related Diamond-Blackfan Anemia GT1008
Gata1-Related X-Linked Cytopenia GT1001
Gaucher Disease Perinatal Lethal GCH006
Gaucher Disease Type 1 GCH003 GD 1
Gaucher Disease Type 2 GCH004 GD 2
Gaucher Disease Type 3 GCH005 GD 3
Gaucher Disease, Atypical GCH014
Gaucher Disease, Atypical, Due to Saposin C Deficiency GCH010
Gaucher Disease, Type Iiic GCH013
Gaucher's Disease GCH001 GD
Gbe1-Related Disorders GB1001
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
Gdnf-Related Hirschsprung Disease GDN001
Geleophysic Dysplasia GLP001
Geleophysic Dysplasia 1 GLP003
Geleophysic Dysplasia 2 GLP004
Gemistocytic Astrocytoma GMS001
Gender Identity Disorder GND002
Generalized Anxiety Disorder GNR004
Generalized Dystonia GNR032
Generalized Epilepsy and Paroxysmal Dyskinesia GNR006 GEPD
Generalized Epilepsy with Febrile Seizures Plus GNR002 GEFS+
Generalized Eruptive Histiocytosis GNR023
Generalized Galactose Epimerase Deficiency GNR029
Generalized Pustular Psoriasis GNR017 GPP
Generalized Resistance to Thyroid Hormone GNR008 GRTH
Genetic Hyperferritinemia Without Iron Overload GNT037
Genetic Prion Diseases GNT033 TSES
Genetic Transient Congenital Hypothyroidism GNT039
Geniculate Herpes Zoster GNC003
Geniospasm GNS001 GSM 1
Genital Herpes GNT003
Genitopatellar Syndrome GNT031 GPS
Germ Cell Cancer GRM005
Germ Cell Tumors GRM009
Germinoma GRM004
Geroderma Osteodysplastica GRD006 GO
Gerstmann-Straussler Disease GRS011
Gerstmann-Straussler-Scheinker Syndrome GRS010 GSSD
Gestational Choriocarcinoma GST052
Gestational Diabetes GST033 GDM
Gestational Diabetes Insipidus GST058
Gestational Trophoblastic Neoplasm GST010 GTN
Gestational Trophoblastic Tumor GST059
Gfpt1-Related Congenital Myasthenic Syndrome GFP001
Ghosal Hematodiaphyseal Syndrome GHS004
Giant Axonal Neuropathy GNT009 GAN
Giant Axonal Neuropathy 2, Autosomal Dominant GNT040
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
Giant Platelet Disorder, Isolated GNT025
Giardiasis GRD001
Gigantism GGN002
Gigantism Due to Ghrf Hypersecretion GGN001
Gilbert Syndrome GLB001
Gilles De La Tourette Syndrome GLL008 TD
Gillespie Syndrome GLL028
Gingival Disease GNG011
Gingival Fibromatosis with Hypertrichosis GNG015 CGHT
Gingival Fibromatosis, 1 GNG016 GGF1
Gingival Fibromatosis, 2 GNG017 GGF2
Gingival Fibromatosis, 3 GNG018 GGF3
Gingival Fibromatosis, 4 GNG019 GGF4
Gingival Hypertrophy GNG006
Gingival Overgrowth GNG012
Gingival Recession GNG003
Gingivitis GNG013
Gitelman Syndrome GTL001 GS
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
Glanzmann's Thrombasthenia GLN003 GT
Glass Syndrome GLS018
Glassy Cell Carcinoma of the Cervix GLS012
Glaucoma GLC007
Glaucoma 1, Open Angle, 1o GLC059
Glaucoma 1, Open Angle, E GLC062
Glaucoma 1, Open Angle, F GLC078
Glaucoma 1, Open Angle, G GLC060
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
Glaucoma 1a, Primary Open Angle GLC074
Glaucoma 1b, Primary Open Angle, Adult Onset GLC044
Glaucoma 1c, Primary Open Angle GLC045
Glaucoma 1d, Primary Open Angle GLC046
Glaucoma 1k, Primary Open Angle, Juvenile-Onset GLC050
Glaucoma 3 Primary Infantile B GLC026
Glaucoma 3, Primary Congenital, C GLC052
Glaucoma 3, Primary Congenital, D GLC054
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset GLC075
Glaucoma, Congenital GLC030
Glb1-Related Disorders GLB016
Gldc-Related Glycine Encephalopathy GLD004
Gli2-Related Holoprosencephaly GL2001
Gli3-Related Disorders GL3001
Glioblastoma 3 GLB007
Glioblastoma Multiforme GLB015 GBM
Glioblastoma, Somatic GLB008
Gliofibroma GLF001
Glioma Somatic GLM037 GBM
Glioma Susceptibility 1 GLM040
Glioma Susceptibility 2 GLM025
Glioma Susceptibility 4 GLM019
Glioma Susceptibility 5 GLM020
Glioma Susceptibility 6 GLM021
Glioma Susceptibility 7 GLM038
Glioma Susceptibility 8 GLM022
Gliomatosis Cerebri GLM004
Gliomatosis Peritonei GLM036
Gliosarcoma GLS001
Global Cerebral Hypomyelination GLB006
Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome GLB017
Globozoospermia GLB004
Glomangioma GLM006
Glomangiomyoma GLM003
Glomangiosarcoma GLM005
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria GLM024
Glomeruloid Hemangioma GLM001
Glomerulonephritis GLM007
Glomerulopathy with Fibronectin Deposits 1 GLM014 GFND1
Glomerulopathy with Fibronectin Deposits 2 GLM015 GFND
Glomerulosclerosis GLM011
Glomerulosclerosis, Focal Segmental, 4 GLM033
Glomerulosclerosis, Focal Segmental, 6 GLM039
Glomus Tumor GLM008
Glomuvenous Malformation GLM034
Glossitis GLS007
Glossopharyngeal Neuralgia GLS004
Glra1-Related Hyperekplexia GLR001
Glrb-Related Hyperekplexia GLR002
Glucagonoma GLC036
Glucocorticoid Deficiency 1 GLC042
Glucocorticoid Deficiency 2 GLC043
Glucocorticoid Deficiency 3 GLC053
Glucocorticoid Deficiency 4 GLC073
Glucocorticoid Deficiency, Due to Acth Unresponsiveness GLC055
Glucocorticoid Resistance GLC037
Glucocorticoid Therapy, Response to GLC077
Glucocorticoid-Remediable Aldosteronism GLC002 FH1
Glucose Intolerance GLC003
Glucose Transporter Type 1 Deficiency Syndrome GLC024 GTPS
Glucose-Galactose Malabsorption GLC072 GGM
Glucosephosphate Dehydrogenase Deficiency GLC009
Glucosephosphate Isomerase Deficiency GLC039
Glud1-Related Hyperinsulinism GLD005
Glut1 Deficiency Syndrome 1 GLT018
Glut1 Deficiency Syndrome 2 GLT019 PED
Glutamate Formiminotransferase Deficiency GLT005
Glutamine Deficiency, Congenital GLT011
Glutaric Acidemia Iia GLT024
Glutaric Acidemia Iib GLT025
Glutaric Acidemia Iic GLT023 MADD
Glutaric Acidemia Type 3 GLT022
Glutaric Acidemia Type I GLT012 GA1
Glutaric Acidemia Type Ii GLT013 EMA
Glutathione Synthetase Deficiency GLT007
Glutathioninuria GLT008
Glutathionuria GLT014
Glycerol Kinase Deficiency, Adult Form GLY046
Glycerol Kinase Deficiency, Infantile Form GLY048
Glycerol Kinase Deficiency, Juvenile Form GLY049
Glycine Encephalopathy GLY010 NKA
Glycine N-Methyltransferase Deficiency GLY015
Glycogen Storage Disease GLY013
Glycogen Storage Disease Due to Acid Maltase Deficiency, Adult Onset GLY050
Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset GLY052
Glycogen Storage Disease Due to Acid Maltase Deficiency, Juvenile Onset GLY051
Glycogen Storage Disease Due to Phosphoglucomutase Deficiency GLY055
Glycogen Storage Disease I GLY002
Glycogen Storage Disease Ic GLY017
Glycogen Storage Disease Ii GLY008 AMD
Glycogen Storage Disease Iii GLY003 GSD3
Glycogen Storage Disease Iiia GLY019
Glycogen Storage Disease Iiib GLY020
Glycogen Storage Disease Iv GLY007 GSD4
Glycogen Storage Disease Ixc GLY044
Glycogen Storage Disease Type 0 GLY023 GSD 0
Glycogen Storage Disease Type 0, Muscle GLY024
Glycogen Storage Disease Type 12 GLY025 GSD12
Glycogen Storage Disease Type 13 GLY026 GSD13
Glycogen Storage Disease Type 14 GLY027
Glycogen Storage Disease Type 1a GLY028 GSD1
Glycogen Storage Disease Type 1b GLY029
Glycogen Storage Disease V GLY004 GSDV
Glycogen Storage Disease Vi GLY005 GSD6
Glycogen Storage Disease Vii GLY011 GSD7
Glycogen Storage Disease Xii GLY043
Glycogen Storage Disease Xv GLY009
Glycogen Storage Disease, Type Ixa1 GLY040 XLG
Glycogen Storage Disease, Type Ixa2 GLY041
Glycoprotein 1a Deficiency GLY037
Glycosylphosphatidylinositol Deficiency GLY032
Gm1 Gangliosidosis Type 1 GM1001
Gm1 Gangliosidosis Type 2 GM1002
Gm1 Gangliosidosis Type 3 GM1003
Gm2 Activator Deficiency GM2003
Gm2-Gangliosidosis, Ab Variant GM2005
Gm2-Gangliosidosis, Several Forms GM2004
Gnas Hyperfunction GNS003
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
Goblet Cell Carcinoid GBL002 GCC
Goeminne Tkcr Syndrome GMN001
Goiter GTR002
Goiter, Familial, Due to Ttf-1 Defect GTR006
Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors GTR011 FMNG
Goiter, Multinodular, 2 GTR004
Goiter, Multinodular, 3 GTR005
Goldberg-Shprintzen Megacolon Syndrome GLD002 SGS
Goldenhar Syndrome GLD001 OAVS
Goldmann-Favre Syndrome GLD003
Gonadal Dysgenesis GND004
Gonadoblastoma GND001
Gonorrhea GNR005
Good Syndrome GDS001
Goodpasture Syndrome GDP001
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
Gracile Syndrome GRC001 FLNMS
Graft Versus Host Disease GRF002
Graft-Versus-Host Disease, Protection Against GRF001 GVH
Graham Little-Piccardi-Lassueur Syndrome GRH003
Granular Cell Tumor GRN010
Granulocytopenia GRN017
Granuloma Annulare GRN007
Granuloma Inguinale GRN005
Granulomatosis with Polyangiitis GRN037 WG
Granulomatous Amebic Encephalitis GRN004
Granulomatous Angiitis GRN006
Granulomatous Dermatitis GRN003
Granulomatous Hepatitis GRN009
Granulomatous Mastitis GRN033
Granulomatous Orchitis GRN002
Granulosa Cell Tumor of the Ovary GRN022 GTCT
Graves Disease 1 GRV008
Graves Disease 2 GRV009
Graves Disease 3 GRV007
Graves Disease 4 GRV011
Graves Disease X-Linked GRV010
Graves' Disease GRV001
Gray Platelet Syndrome GRY002 GPS
Gray Zone Lymphoma GRY001
Greig Cephalopolysyndactyly Syndrome GRG001 GCPS
Grip1-Related Fraser Syndrome GRP006
Griscelli Syndrome GRS003
Griscelli Syndrome Type 1 GRS007 GS1
Griscelli Syndrome Type 2 GRS008 GS2
Griscelli Syndrome Type 3 GRS009 GS3
Grn-Related Frontotemporal Dementia GRN014 FTLD
Groenouw Type I Corneal Dystrophy GRN024 GCD1
Growing Teratoma Syndrome GRW021
Growth Hormone Deficiency GRW007
Growth Hormone Deficiency with Pituitary Anomalies GRW014
Growth Hormone Insensitivity with Immunodeficiency GRW003
Growth Hormone Secreting Pituitary Adenoma GRW001
Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency GRW004
Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome GRW022
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death GRW012
Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia GTP002 DYT5
Gtp Cyclohydrolase 1-Related Disorders GTP005
Gtp Cyclohydrolase I Deficiency GTP003
Guanidinoacetate Methyltransferase Deficiency GND009
Guca1b-Related Retinitis Pigmentosa GC1001
Gucy2d-Related Leber Congenital Amaurosis GCY001
Guillain-Barre Syndrome GLL022 GBS
Guttate Psoriasis GTT002
Gynandroblastoma GYN003
Gynecomastia GYN001
Gyrate Atrophy GYR001 HOGA
Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia GYR003 HOGA