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394 rare conditions. 62 with a recruiting study in our latest snapshot.
Gabriele-de Vries syndromeView →
Gaisböck syndromeView →
Galactokinase deficiencyView →
Galactose epimerase deficiencyView →
Galactose mutarotase deficiencyView →
GalactosialidosisView →
Gallbladder neuroendocrine tumor7 recruitingEndocrineView →
Gallblader arteriovenous malformationView →
Galloway-Mowat syndromeView →
Gamma-aminobutyric acid transaminase deficiencyView →
Gamma-glutamyl transpeptidase deficiencyView →
Gamma-heavy chain diseaseView →
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R51 recruitingNeuromuscularView →
Gangliocytoma5 recruitingView →
Ganglioglioma4 recruitingOncologyView →
Ganglioneuroblastoma8 recruitingOncologyView →
Ganglioneuroma5 recruitingView →
GangliosidosisGroupView →
GAPO syndromeView →
Gardner syndromeView →
Gastric adenocarcinoma and proximal polyposis of the stomachOncologyView →
Gastric linitis plastica1 recruitingView →
Gastrocutaneous syndromeView →
Gastroduodenal malformationGroupView →
Gastroenteric neuroendocrine neoplasmEndocrineGroupView →
Gastroenteropancreatic neuroendocrine neoplasmEndocrineGroupView →
Gastrointestinal Stromal Tumor58 recruitingOncologyView →
Gastrointestinal tract arteriovenous malformation1 recruitingView →
Gastroschisis6 recruitingView →
GATA2 deficiency spectrumView →
Gaucher Disease24 recruitingMetabolicView →
Gaucher disease type 18 recruitingMetabolicView →
Gaucher disease type 222 recruitingMetabolicView →
Gaucher disease type 35 recruitingMetabolicView →
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeOphthalmologicalView →
GCGR-related hyperglucagonemiaView →
Gelastic seizures with hypothalamic hamartomaNeurologicalView →
Gelatinous drop-like corneal dystrophyOphthalmologicalView →
Geleophysic dysplasiaView →
Gemignani syndromeView →
Gemistocytic astrocytomaView →
Generalized arterial calcification of infancy1 recruitingView →
Generalized basaloid follicular hamartoma syndromeView →
Generalized epilepsy-paroxysmal dyskinesia syndrome1 recruitingNeurologicalView →
Generalized eruptive histiocytosisImmuneView →
Generalized eruptive keratoacanthomaView →
Generalized essential telangiectasiaView →
Generalized galactose epimerase deficiencyView →
Generalized glucocorticoid resistance syndromeView →
Generalized isolated dystoniaGroupView →
Generalized juvenile polyposis/juvenile polyposis coliView →
Generalized peeling skin syndromeView →
Generalized pseudohypoaldosteronism type 11 recruitingView →
Generalized pustular psoriasis10 recruitingView →
Generalized resistance to thyroid hormone2 recruitingEndocrineView →
Genetic 46,XX difference of sex developmentGroupView →
Genetic 46,XY difference of sex developmentGroupView →
Genetic 46,XY difference of sex development of endocrine originGroupView →
Genetic acrokeratodermaDermatologicalGroupView →
Genetic alopeciaGroupView →
Genetic autoinflammatory syndrome with skin involvementImmuneGroupView →
Genetic biliary tract diseaseGroupView →
Genetic bone tumorGroupView →
Genetic branchial arch or oral-acral syndromeGroupView →
Genetic cardiac anomalyGroupView →
Genetic cardiac malformationGroupView →
Genetic cardiac rhythm diseaseGroupView →
Genetic cardiac tumorGroupView →
Genetic central nervous system and retinal vascular diseaseOphthalmologicalGroupView →
Genetic central nervous system malformationGroupView →
Genetic central precocious puberty in femaleView →
Genetic central precocious puberty in maleView →
Genetic cerebellar malformationNeurologicalGroupView →
Genetic cerebral malformationGroupView →
Genetic cerebral small vessel diseaseGroupView →
Genetic chronic primary adrenal insufficiencyRenalGroupView →
Genetic complex vascular malformation with associated anomaliesGroupView →
Genetic congenital limb malformationGroupView →
Genetic congenital malformation of the eye with glaucoma as a major featureGroupView →
Genetic corneal dystrophyOphthalmologicalGroupView →
Genetic cranial malformationGroupView →
Genetic cystic renal diseaseRenalGroupView →
Genetic dementiaGroupView →
Genetic dermis disorderGroupView →
Genetic dermis elastic tissue disorderGroupView →
Genetic developmental defect of the eyeGroupView →
Genetic difference of sex developmentGroupView →
Genetic difference of sex development of gynecological interestGroupView →
Genetic digestive tract malformationGroupView →
Genetic digestive tract tumorGroupView →
Genetic endocrine growth diseaseGroupView →
Genetic epidermal appendage anomalyGroupView →
Genetic epidermal disorderGroupView →
Genetic epilepsy with febrile seizure plusNeurologicalView →
Genetic erythrokeratodermaDermatologicalGroupView →
Genetic eye tumorGroupView →
Genetic facial cleftGroupView →
Genetic frontotemporal degeneration with dementiaGroupView →
Genetic gastro-esophageal diseaseGroupView →
Genetic glomerular diseaseRenalGroupView →
Genetic gynecological tumorGroupView →
Genetic hair anomalyGroupView →
Genetic head and neck malformationGroupView →
Genetic hemoglobinopathyGroupView →
Genetic hemolytic uremic syndromeGroupView →
Genetic hyperaldosteronismGroupView →
Genetic hyperparathyroidismEndocrineGroupView →
Genetic hyperpigmentation of the skinGroupView →
Genetic hypoparathyroidismEndocrineGroupView →
Genetic hypopigmentation of the skinGroupView →
Genetic immune deficiency with skin involvementGroupView →
Genetic infertilityGroupView →
Genetic inflammatory or rheumatoid-like osteoarthropathyGroupView →
Genetic interstitial lung diseaseGroupView →
Genetic intestinal diseaseGroupView →
Genetic intestinal disease due to fat malabsorptionGroupView →
Genetic intestinal polyposisGroupView →
Genetic intractable diarrhea of infancyGroupView →
Genetic larynx anomalyGroupView →
Genetic lens and zonula anomalyGroupView →
Genetic lethal multiple congenital anomalies/dysmorphic syndromeGroupView →
Genetic lipodystrophyGroupView →
Genetic malformation syndrome with odontal and/or periodontal componentGroupView →
Genetic malformation syndrome with short statureGroupView →
Genetic mixed dermis disorderGroupView →
Genetic motor neuron diseaseNeuromuscularGroupView →
Genetic multiple congenital anomalies/dysmorphic syndromeGroupView →
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disabilityGroupView →
Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityGroupView →
Genetic nail anomalyGroupView →
Genetic neuro-ophthalmological diseaseOphthalmologicalGroupView →
Genetic neurodegenerative diseaseNeurologicalGroupView →
Genetic neurodegenerative disease with dementiaNeurologicalGroupView →
Genetic neuroendocrine tumorEndocrineGroupView →
Genetic neurological channelopathy of the central nervous systemGroupView →
Genetic neurological muscular channelopathyGroupView →
Genetic neuromuscular diseaseGroupView →
Genetic neuromuscular junction diseaseGroupView →
Genetic neurovascular malformationGroupView →
Genetic non-syndromic central nervous system malformationGroupView →
Genetic non-syndromic obesity2 recruitingView →
Genetic non-syndromic renal or urinary tract malformationRenalGroupView →
Genetic nose and cavum anomalyGroupView →
Genetic obesityGroupView →
Genetic otorhinolaryngologic diseaseGroupView →
Genetic otorhinolaryngological malformationGroupView →
Genetic overgrowth/obesity syndromeGroupView →
Genetic pancreatic diseaseGroupView →
Genetic parenchymatous liver diseaseGroupView →
Genetic periodic paralysisGroupView →
Genetic peripheral neuropathyGroupView →
Genetic photodermatosisGroupView →
Genetic pigmentation anomaly of the skinGroupView →
Genetic polycythemiaBloodGroupView →
Genetic polyendocrinopathyGroupView →
Genetic porokeratosisDermatologicalGroupView →
Genetic posterior fossa malformationGroupView →
Genetic precocious pubertyGroupView →
Genetic precocious puberty in femaleGroupView →
Genetic primary orthostatic disorderGroupView →
Genetic primary orthostatic hypotensionGroupView →
Genetic progeroid syndromeGroupView →
Genetic recurrent myoglobinuriaView →
Genetic renal or urinary tract malformationRenalGroupView →
Genetic renal tubular diseaseRenalGroupView →
Genetic renal tumorRenalGroupView →
Genetic respiratory malformationGroupView →
Genetic respiratory or mediastinal malformationGroupView →
Genetic sebaceous gland anomalyGroupView →
Genetic skeletal muscle diseaseGroupView →
Genetic skin tumor or hamartomaGroupView →
Genetic skin vascular disorderGroupView →
Genetic soft tissue tumorGroupView →
Genetic subcutaneous tissue disorderGroupView →
Genetic superficial corneal dystrophyOphthalmologicalGroupView →
Genetic susceptibility to infections due to particular pathogensGroupView →
Genetic syndrome with a central nervous system malformation as a major featureGroupView →
Genetic syndrome with a cerebellar malformation as a major featureNeurologicalGroupView →
Genetic syndrome with a Dandy-Walker malformation as a major featureGroupView →
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major featureGroupView →
Genetic syndrome with limb malformations as a major featureGroupView →
Genetic syndrome with limb reduction defectsGroupView →
Genetic syndromic esophageal malformationGroupView →
Genetic syndromic Pierre Robin syndromeGroupView →
Genetic systemic disease with glomerulopathy as a major featureRenalGroupView →
Genetic thrombotic microangiopathyGroupView →
Genetic tracheal anomalyGroupView →
Genetic transient congenital hypothyroidismEndocrineView →
Genetic tumor of hematopoietic and lymphoid tissuesGroupView →
Genetic urogenital tract malformationGroupView →
Genetic urogenital tumorGroupView →
Genetic vascular anomalyGroupView →
Genetic visceral malformation of the liver, biliary tract, pancreas or spleenGroupView →
Genitopalatocardiac syndromeView →
Genitopatellar syndromeView →
Genochondromatosis type 1View →
Genochondromatosis type 2View →
Germ cell tumorGroupView →
Germ cell tumor of testisGroupView →
German syndrome3 recruitingView →
Germinoma of the central nervous system17 recruitingView →
Geroderma osteodysplasticaView →
Gerstmann syndrome1 recruitingView →
Gerstmann-Straussler-Scheinker syndrome1 recruitingView →
Gestational choriocarcinoma1 recruitingOncologyView →
Gestational trophoblastic diseaseGroupView →
Ghosal hematodiaphyseal dysplasiaView →
Giant adenofibroma of the breastView →
Giant axonal neuropathy1 recruitingView →
Giant cell arteritis40 recruitingView →
Giant cell glioblastoma1 recruitingOncologyView →
Giant cell tumor of bone9 recruitingView →
Giant omphaloceleView →
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndromeCardiovascularView →
Gingival fibromatosis-facial dysmorphism syndromeView →
Gingival fibromatosis-hypertrichosis syndromeView →
Gingival fibromatosis-progressive deafness syndromeView →
Gitelman Syndrome2 recruitingRenalView →
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutationMitochondrialView →
GJC2-related late-onset primary lymphedemaView →
Glanders1 recruitingView →
Glanzmann Thrombasthenia4 recruitingBloodView →
Glassy cell carcinoma of the cervix uteriOncologyView →
Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaView →
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndromeView →
Glaucoma-sleep apnea syndrome1 recruitingView →
Glaucomatocyclitic crisis diseaseView →
Glioblastoma324 recruitingOncologyView →
Glioependymal/ependymal cystView →
Gliomatosis cerebri1 recruitingOncologyView →
Gliosarcoma16 recruitingOncologyView →
Global cerebellar malformationNeurologicalGroupView →
Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndromeNeurologicalView →
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeView →
Global developmental delay-dental enamel defects-ataxia syndromeNeurologicalView →
Global developmental delay-facial dysmorphism-atrial septal defect syndromeView →
Global developmental delay-facial dysmorphism-brachydactyly syndromeView →
Global developmental delay-facial dysmorphism-hands and feet anomalies syndromeView →
Global developmental delay-high pain tolerance-intellectual disability syndromeView →
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndromeView →
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndromeView →
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndromeView →
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeNeurologicalView →
Global developmental delay-osteopenia-ectodermal defect syndromeView →
Global developmental delay-recurrent infections-facial dysmorphism syndromeView →
Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndromeView →
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeNeurologicalView →
Glomerular diseaseRenalGroupView →
Glomerulonephritis-sparse hair-telangiectasis syndromeRenalView →
Glomus Tumor1 recruitingOncologyView →
Glomuvenous malformationView →
Glossopalatine ankylosisView →
Glossopharyngeal neuralgia1 recruitingView →
GlucagonomaEndocrineView →
Gluconeogenesis disorderGroupView →
Glucose transport disorderGroupView →
Glucose-galactose malabsorptionView →
Glutamate-cysteine ligase deficiencyView →
Glutaric acidemia type 3MetabolicView →
Glutaric Aciduria Type 12 recruitingMetabolicView →
Glutathione synthetase deficiencyView →
Glutathione synthetase deficiency with 5-oxoprolinuriaView →
Glutathione synthetase deficiency without 5-oxoprolinuriaView →
Glycerol kinase deficiency, adult formView →
Glycerol kinase deficiency, juvenile formView →
Glycogen Storage Disease38 recruitingMetabolicView →
Glycogen storage disease due to acid maltase deficiency, infantile onsetMetabolicView →
Glycogen storage disease due to acid maltase deficiency, late-onsetMetabolicView →
Glycogen storage disease due to aldolase A deficiencyMetabolicView →
Glycogen storage disease due to glucose-6-phosphatase deficiencyMetabolicView →
Glycogen storage disease due to glucose-6-phosphatase deficiency type IaMetabolicView →
Glycogen storage disease due to glucose-6-phosphatase deficiency type IbMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiencyMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular formMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic formMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular formMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular formMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular formMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic formMetabolicView →
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic formMetabolicView →
Glycogen storage disease due to glycogen debranching enzyme deficiencyMetabolicView →
Glycogen storage disease due to hepatic glycogen synthase deficiencyMetabolicView →
Glycogen storage disease due to lactate dehydrogenase deficiency1 recruitingMetabolicView →
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiencyMetabolicView →
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyMetabolicView →
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiencyMetabolicView →
Glycogen storage disease due to liver glycogen phosphorylase deficiencyMetabolicView →
Glycogen storage disease due to liver phosphorylase kinase deficiencyMetabolicView →
Glycogen storage disease due to muscle and heart glycogen synthase deficiencyMetabolicView →
Glycogen storage disease due to muscle beta-enolase deficiencyMetabolicView →
Glycogen storage disease due to muscle phosphofructokinase deficiencyMetabolicView →
Glycogen storage disease due to muscle phosphorylase kinase deficiencyMetabolicView →
Glycogen storage disease due to phosphoglucomutase deficiencyMetabolicView →
Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyMetabolicView →
Glycogen storage disease due to phosphoglycerate mutase deficiencyMetabolicView →
Glycogen storage disease type 1cMetabolicView →
Glycogen storage disease type 1dMetabolicView →
Glycogen storage disease with hypertrophic cardiomyopathyNeuromuscularGroupView →
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyNeuromuscularView →
GlycoproteinosisGroupView →
GM1 Gangliosidosis9 recruitingMetabolicView →
GM1 gangliosidosis type 14 recruitingView →
GM1 gangliosidosis type 22 recruitingView →
GM1 gangliosidosis type 32 recruitingView →
GM2 gangliosidosis, AB variantView →
GM2 Gangliosidosis, Adult-Onset1 recruitingNeurologicalView →
GM3 synthase deficiencyView →
GMPPB-related limb-girdle muscular dystrophy R192 recruitingNeuromuscularView →
GMS syndromeView →
GNAO1-related developmental delay-seizures-movement disorder spectrumNeurologicalView →
Gnathodiaphyseal dysplasiaView →
GNB5-related intellectual disability-cardiac arrhythmia syndromeCardiovascularView →
GNE Myopathy1 recruitingNeuromuscularView →
Goblet cell carcinoma1 recruitingOncologyView →
Goldberg-Shprintzen megacolon syndromeView →
Goldenhar syndrome3 recruitingView →
Goldmann-Favre syndrome1 recruitingView →
Gollop-Wolfgang complexView →
Gómez-López-Hernández syndromeView →
Gonadal dysgenesis of gynecological interestGroupView →
Gonadal germ cell tumorGroupView →
GonadoblastomaOncologyView →
Gonococcal conjunctivitisView →
Goodman syndromeView →
Gordon syndrome3 recruitingView →
Gorham-Stout disease3 recruitingView →
Gorlin syndrome5 recruitingView →
Gorlin-Chaudhry-Moss syndromeView →
GRACILE syndromeView →
Graft versus host disease205 recruitingView →
Graham Little-Piccardi-Lassueur syndromeView →
Grange syndromeView →
Grant syndromeView →
Granular corneal dystrophy type IOphthalmologicalView →
Granular corneal dystrophy type IIOphthalmologicalView →
Granuloma facialeView →
Granulomatosis with polyangiitis24 recruitingView →
Granulomatous arthritis of childhoodView →
Granulomatous autoinflammatory syndromeImmuneGroupView →
Granulomatous autoinflammatory syndrome of childhoodImmuneGroupView →
Granulomatous mastitis2 recruitingView →
Granulomatous slack skinView →
Gray platelet syndromeView →
Grayson-Wilbrandt corneal dystrophyOphthalmologicalView →
Greenberg dysplasiaView →
Greig cephalopolysyndactyly syndromeView →
Greig cephalopolysyndactyly-contiguous gene syndromeView →
GRFomaView →
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorderView →
Griscelli syndromeView →
Griscelli syndrome type 1View →
Griscelli syndrome type 2View →
Griscelli syndrome type 3View →
Grisel syndromeView →
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndromeView →
Growth deficiency-brachydactyly-dysmorphism syndrome1 recruitingView →
Growth delay due to insulin-like growth factor I resistance4 recruitingView →
Growth delay due to insulin-like growth factor type 1 deficiencyView →
Growth delay-hydrocephaly-lung hypoplasia syndromeView →
Growth delay-intellectual disability-hepatopathy syndrome1 recruitingView →
Growth hormone insensitivity syndromeGroupView →
Growth retardation-mild developmental delay-chronic hepatitis syndromeView →
Grubben-de Cock-Borghgraef syndromeView →
GTP cyclohydrolase I deficiencyView →
Guanidinoacetate methyltransferase deficiencyView →
Guttmacher syndromeView →
Gynandroblastoma2 recruitingOncologyView →
Gyrate atrophy of choroid and retina1 recruitingView →
OBSOLETE: Gastric neuroendocrine tumor type 1EndocrineRetired termView →
OBSOLETE: Gastric neuroendocrine tumor type 2EndocrineRetired termView →
OBSOLETE: Gastric neuroendocrine tumor type 3EndocrineRetired termView →
OBSOLETE: Gastric neuroendocrine tumor type 4EndocrineRetired termView →
OBSOLETE: Generalized epilepsy and praxis-induced seizuresNeurologicalRetired termView →
OBSOLETE: Genetic cerebrovascular dementiaRetired termView →
OBSOLETE: Genetic common variable immunodeficiency phenotype and related disordersImmuneRetired termView →
OBSOLETE: Genetic keratinization disorder associated with ocular featuresRetired termView →
OBSOLETE: Genetic macular dystrophyOphthalmologicalRetired termView →
OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeRetired termView →
OBSOLETE: Genetic muscular channelopathyRetired termView →
OBSOLETE: Genetic neurological channelopathyRetired termView →
OBSOLETE: Genetic optic atrophyRetired termView →
OBSOLETE: Genetic primary hypomagnesemiaRetired termView →
OBSOLETE: Genetic primary lymphedemaRetired termView →
OBSOLETE: Genetic vitreous-retinal diseaseOphthalmologicalRetired termView →
OBSOLETE: Genodermatosis with ocular featuresRetired termView →
OBSOLETE: Giant infantile hemangiomaRetired termView →
OBSOLETE: Glaucoma associated with neural crest cell migration anomalyRetired termView →
OBSOLETE: Glycerol kinase deficiency, infantile formRetired termView →
OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onsetMetabolicRetired termView →
OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onsetMetabolicRetired termView →
OBSOLETE: GMPPB-related congenital muscular dystrophyNeuromuscularRetired termView →
OBSOLETE: GoniodysgenesisRetired termView →
OBSOLETE: Granulomatous myositisRetired termView →
OBSOLETE: Grix-Blankenship-Peterson syndromeRetired termView →