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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 →