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Gabriele-de Vries syndrome
- Clinical genetics review
  English (2019) - GeneReviews
Galactokinase deficiency
- Article for general public
  Français (2019) - Tous à l'école
  
  Svenska (2021) - Socialstyrelsen
Galactose epimerase deficiency
- Article for general public
  Français (2019) - Tous à l'école
  
  Svenska (2021) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
Galactosemia
- Article for general public
  Français (2019) - Tous à l'école
  
  Svenska (2021) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
Galloway-Mowat syndrome
- Clinical practice guidelines
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Gamma-glutamyl transpeptidase deficiency
- Review article
  English (2007) - Orphanet J Rare Dis
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gangliocytoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Ganglioglioma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Ganglioneuroblastoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Ganglioneuroma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Gardner syndrome
- Article for general public
  Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V
- Clinical practice guidelines
  English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
  
  English (2012) Management of colorectal carcinoma in children and young adults - J Pediatr Hematol Oncol
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Gastric adenocarcinoma and proximal polyposis of the stomach
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Clinical genetics review
  English (2022) APC-Associated Polyposis Conditions - GeneReviews
Gastric linitis plastica
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2012) - AWMF
- Clinical genetics review
  English (2018) - GeneReviews
Gastroenteropancreatic neuroendocrine neoplasm
- Clinical practice guidelines
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
Gastrointestinal stromal tumor
- Clinical practice guidelines
  English (2018) Gastrointestinal stromal tumours: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2015) The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines - Gastric cancer
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gastroschisis
- Clinical practice guidelines
  English (2024) European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis - Orphanet J Rare Dis
GATA2 deficiency spectrum
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
Gaucher disease
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Svenska (2012) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Maladie de Gaucher - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2011) Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals - Genet Med
  
  Español (2011.pdf) - CIBERER
- Review article
  English (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments - Int J Mol Sci
- Clinical genetics review
  English (2023) Gaucher Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gaucher disease type 1
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Svenska (2012) - Socialstyrelsen
- Emergency guidelines
  Français (2024.pdf) Maladie de Gaucher de type 1 - Orphanet Urgences
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Maladie de Gaucher - PNDS
  
  Español (2011.pdf) - CIBERER
- Review article
  English (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments - Int J Mol Sci
- Clinical genetics review
  English (2023) Gaucher Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gaucher disease type 2
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Svenska (2012) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2022) Maladie de Gaucher - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Review article
  English (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments - Int J Mol Sci
- Clinical genetics review
  English (2023) Gaucher Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gaucher disease type 3
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Svenska (2012) - Socialstyrelsen
- Emergency guidelines
  Français (2020.pdf) Maladie de Gaucher type 3 - Orphanet Urgences
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2022) Maladie de Gaucher - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Review article
  English (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments - Int J Mol Sci
- Clinical genetics review
  English (2023) Gaucher Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Article for general public
  Français (2010.pdf) - Orphanet
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Maladie de Gaucher - PNDS
- Review article
  English (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments - Int J Mol Sci
- Clinical genetics review
  English (2023) Gaucher Disease - GeneReviews
Gelatinous drop-like corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Geleophysic dysplasia
- Clinical practice guidelines
  Français (2021) Dysplasies géléophysiques et dysplasies acromicriques - PNDS
- Clinical genetics review
  English (2018) - GeneReviews
Gemignani syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Generalized arterial calcification of infancy
- Clinical genetics review
  English (2020) - GeneReviews
- Diagnostic Keys
  Français (2021) Livédo - Les clés du diagnostic
Generalized bulbospinal muscular atrophy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Generalized epilepsy-paroxysmal dyskinesia syndrome
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Generalized galactose epimerase deficiency
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
Generalized isolated dystonia
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Clinical genetics review
  English (2017) Hereditary Dystonia Overview - GeneReviews
Generalized juvenile polyposis/juvenile polyposis coli
- Clinical practice guidelines
  English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Juvenile Polyposis Syndrome - GeneReviews
Generalized peeling skin syndrome
- Clinical practice guidelines
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Generalized pseudohypoaldosteronism type 1
- Article for general public
  Svenska (2019) - Socialstyrelsen
Generalized pustular psoriasis
- Review article
  English (2013) - Orphanet J Rare Dis
Genetic 46,XX difference of sex development
- Review article
  Español (2022) Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD) - SEEP
Genetic 46,XY difference of sex development
- Review article
  Español (2022) Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD) - SEEP
Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
- Clinical practice guidelines
  English (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
  
  English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
  
  English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
Genetic cardiac malformation
- Guidance for genetic testing
  Deutsch (2018) - DGK
Genetic cardiac rhythm disease
- Guidance for genetic testing
  Deutsch (2018) - DGK
Genetic cerebral small vessel disease
- Clinical genetics review
  English (2016) COL4A1-Related Disorders - GeneReviews
Genetic chronic primary adrenal insufficiency
- Emergency guidelines
  Français (2019.pdf) Insuffisance surrénale aiguë (ISA) - Orphanet Urgences
  
  Italiano (2015.pdf) Insufficienza surrenalica - Orphanet Urgences
- Clinical practice guidelines
  English (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Genetic cystic renal disease
- Clinical practice guidelines
  Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
  
  English (2018) Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews - JAMA Pediatr
  
  English (2019) Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement - Radiology
Genetic difference of sex development
- Review article
  Español (2022) Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD) - SEEP
Genetic epilepsy with febrile seizure plus
- Article for general public
  English (2016.pdf) SCN2A related conditions - Unique
  
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
  
  Русский (2016.pdf) SCN2A related conditions - Unique
  
  Italiano (2016.pdf) Condizioni Mediche Collegate Al Gene SCN2A - Unique
- Clinical genetics review
  English (2022) SCN1A Seizure Disorders - GeneReviews
Genetic hemolytic uremic syndrome
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Genetic lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Genetic motor neuron disease
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Genetic nephrotic syndrome
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis
  
  English (2020) Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group - Eur J Hum Genet
  
  English (2021) Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group - Nat Rev Nephrol
Genetic non-syndromic obesity
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Genetic obesity
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Genetic peripheral neuropathy
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Diagnostic criteria
  Deutsch (2024) - AWMF
Genetic recurrent myoglobinuria
- Emergency guidelines
  Français (2023) Rhabdomyolyse aux urgences patient non connu - G2M
  
  Français (2023) Rhabdomyolyse par déficit en lipin-1 (LPIN1) - G2M
Genetic susceptibility to infections due to particular pathogens
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
Genetic syndromic Pierre Robin syndrome
- Clinical practice guidelines
  Français (2021) Séquence de Pierre Robin - PNDS
Genetic thrombotic microangiopathy
- Emergency guidelines
  Français (2021.pdf) Microangiopathies thrombotiques - Orphanet Urgences
Genetic transient congenital hypothyroidism
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Genitopatellar syndrome
- Clinical genetics review
  English (2020) KAT6B Disorders - GeneReviews
Germ cell tumor
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  English (2011.pdf) - BNOS
- Review article
  English (2017) - PDQ Cancer Inf Sum
Germ cell tumor of testis
- Article for general public
  Français (2014) - INCa
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
Germinoma of the central nervous system
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2011.pdf) - BNOS
  
  English (2022) EANO, SNO and Euracan consensus review on the current management and future development of intracranial germ cell tumors in adolescents and young adults - Neuro Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
Geroderma osteodysplastica
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Gerstmann-Straussler-Scheinker syndrome
- Anesthesia guidelines
  English (2021) - Orphananesthesia
  
  Español (2021) - Orphananesthesia
- Clinical genetics review
  English (2021) - GeneReviews
Gestational choriocarcinoma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Français (2010) - INCa
  
  English (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
- Review article
  English (2017) - PDQ Cancer Inf Sum
Gestational trophoblastic disease
- Clinical practice guidelines
  Français (2010) - INCa
  
  Deutsch (2022) - AWMF
  
  English (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
Gestational trophoblastic neoplasm
- Clinical practice guidelines
  Français (2010) - INCa
  
  Deutsch (2022) - AWMF
  
  English (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
Giant axonal neuropathy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Giant cell arteritis
- Article for general public
  Français (2007.pdf) - Orphanet
- Emergency guidelines
  Français (2025.pdf) Artérite à cellules géantes - Orphanet Urgences
  
  Español (2020.pdf) Arteritis de células gigantes - Orphanet Urgences
- Clinical practice guidelines
  Français (2017) Artérite à Cellules Géantes (Horton) - PNDS
  
  Deutsch (2020) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2021) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Giant Cell Arteritis and Takayasu Arteritis - Arthritis Rheumatol
  
  English (2019) 2018 EULAR recommendations for a core data set to support observational research and clinical care in giant cell arteritis - Ann Rheum Dis
Giant cell tumor of bone
- Clinical practice guidelines
  English (2021) Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  Deutsch (2011) - Onkopedia
Gingival fibromatosis-facial dysmorphism syndrome
- Review article
  English (2016) Gingival fibromatosis: clinical, molecular and therapeutic issues - Orphanet J Rare Dis
Gingival fibromatosis-hypertrichosis syndrome
- Review article
  English (2016) Gingival fibromatosis: clinical, molecular and therapeutic issues - Orphanet J Rare Dis
Gingival fibromatosis-progressive deafness syndrome
- Review article
  English (2016) Gingival fibromatosis: clinical, molecular and therapeutic issues - Orphanet J Rare Dis
Gitelman syndrome
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2025) Syndrome de Gitelman - PNDS
  
  English (2017) Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference - Kidney Int
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
GJC2-related late-onset primary lymphedema
- Clinical practice guidelines
  Deutsch (2017) - AWMF
Glanzmann thrombasthenia
- Emergency guidelines
  Français (2022.pdf) Thrombasthénie de Glanzmann - Orphanet Urgences
  
  Italiano (2012.pdf) Tromboastenia di Glanzmann - Orphanet Urgences
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2019) Thrombasthénie de Glanzmann et pathologies plaquettaires apparentées - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2023) Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders - Orphanet J Rare Dis
- Review article
  English (2006) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Glassy cell carcinoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
Glial tumor
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Glial tumor of neuroepithelial tissue with unknown origin
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Glioblastoma
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Gliomatosis cerebri
- Clinical practice guidelines
  English (2011.pdf) - BNOS
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Clinical genetics review
  English (2022) - GeneReviews
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Clinical genetics review
  English (2020) - GeneReviews
Glomerular disease
- Clinical practice guidelines
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Diagnostic Keys
  Français (2022) Protéinurie - Les clés du diagnostic
Glucagonoma
- Clinical practice guidelines
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
- Review article
  English (2012) Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances - Best Pract Res Clin Gastroenterol
Glutamate-cysteine ligase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Review article
  English (2007) - Orphanet J Rare Dis
Glutaric acidemia type 3
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
Glutaryl-CoA dehydrogenase deficiency
- Article for general public
  Français (2011.pdf) - EIMD
  
  Français (2018.pdf) Acidurie glutarique de type 1 : guide pour les parents et les patients - Heidelberg University Hospital
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  Deutsch (2018.pdf) Glutarazidurie typ 1 : ein leitfaden für eltern und patienten - Heidelberg University Hospital
  
  English (2011.pdf) - EIMD
  
  English (2018.pdf) Glutaric aciduria type 1 : A guide for parents and patients - Heidelberg University Hospital
  
  Español (2011.pdf) - EIMD
  
  Español (2018.pdf) Aciduria glutarica tipo 1 : guia para padres y pacientes - Heidelberg University Hospital
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2023) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2022) Acidurie glutarique de type 1 - G2M
  
  English (2023.pdf) Protocol for COMA and inherited metabolic diseases (new patient) - G2M
  
  English (2022.pdf) Protocol for glutaric aciduria type 1 - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Acidurie glutarique type 1 - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2011) Diagnosis and management of glutaric aciduria type I--revised recommendations - J Inherit Metab Dis
  
  English (2022) Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision - J Inherit Metab Dis
- Clinical genetics review
  English (2019) Glutaric Acidemia Type 1 - GeneReviews
Glutathione synthetase deficiency
- Emergency guidelines
  Français (2023) Protocole d'urgence - Déficit en glutathion synthétase - G2M
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Review article
  English (2007) - Orphanet J Rare Dis
Glycine encephalopathy
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical genetics review
  English (2019) Nonketotic Hyperglycinemia - GeneReviews
Glycogen storage disease due to acid maltase deficiency
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Deutsch (2017.pdf) - ACHSE
  
  Español (2012.pdf) - Sanofi
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Maladie de Pompe - PNDS
  
  Français (2016) Maladie de Pompe - PNDS
  
  Deutsch (2021) Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum - Fortschr Neurol Psychiatr
  
  English (2017) European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience - Eur J Neurol
- Clinical genetics review
  English (2023) Pompe Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Glycogen storage disease due to acid maltase deficiency, infantile onset
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Deutsch (2017.pdf) - ACHSE
  
  Español (2012.pdf) - Sanofi
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
  
  Français (2023) Maladie de pompe infantile précoce - G2M
  
  Français (2023) Maladie de pompe infantile précoce - G2M
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Maladie de Pompe - PNDS
  
  Français (2016) Maladie de Pompe - PNDS
  
  Deutsch (2021) Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum - Fortschr Neurol Psychiatr
  
  English (2017) European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience - Eur J Neurol
  
  English (2011) Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals - Gene Med
- Review article
  Español (2016.pdf) - Rev Neurol
- Clinical genetics review
  English (2023) Pompe Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Glycogen storage disease due to acid maltase deficiency, late-onset
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Deutsch (2017.pdf) - ACHSE
  
  Español (2012.pdf) - Sanofi
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Maladie de pompe juvénile et adulte - G2M
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Maladie de Pompe - PNDS
  
  Français (2016) Maladie de Pompe - PNDS
  
  Deutsch (2021) Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum - Fortschr Neurol Psychiatr
  
  English (2017) European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience - Eur J Neurol
  
  English (2012) Clinical guidelines for late-onset Pompe disease - Rev Neurol
  
  Español (2012) Guía clínica de la enfermedad de Pompe de inicio tardío - Rev Neurol
  
  Español (2012) Clinical guidelines for late-onset Pompe disease - Rev Neurol
- Clinical genetics review
  English (2023) Pompe Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Glycogen storage disease due to aldolase A deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Glycogen storage disease due to glucose-6-phosphatase deficiency
- Emergency guidelines
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  Deutsch (2015) - Orphananesthesia
  
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Glycogénose de type I - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Chirurgies des glycogénoses Ia et Ib - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2022) Glycogénose de type 1a - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  English (2022.pdf) Glycogen storage disease type 1a - G2M
  
  English (2022.pdf) Recurrent undiagnosed hypoglycaemia - G2M
  
  English (2022.pdf) Hypoglycaemia in A&E (no diagnosis known) - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2022) Glycogénose de type I - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Glycogénose de type 1b - G2M
  
  Français (2023) Chirurgies des glycogénoses Ia et Ib - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  English (2024.pdf) Glycogen storage disease type 1b - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Glycogénose de type I - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Glycogen storage disease due to glycogen branching enzyme deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical genetics review
  English (2019) - GeneReviews
Glycogen storage disease due to glycogen debranching enzyme deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2022) Protocole d'urgence - Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Protocole d'urgence - Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2023) Protocole d'urgence - présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
  
  English (2023.pdf) Rhabdomyolysis protocol for A&E (new patient) - G2M
  
  English (2022.pdf) Recurring severe rhabdomyolysis with no diagnosis - G2M
  
  English (2022.pdf) Glycogen storage disease type 3 - G2M
  
  English (2022.pdf) Recurrent undiagnosed hypoglycaemia - G2M
  
  English (2022.pdf) Hypoglycaemia in A&E (no diagnosis known) - G2M
  
  English (2022.pdf) Recurring mild rhabdomyolysis with no diagnosis - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Glycogénose de Type III (GSD III pour Glycogen Storage Disease Type III) - PNDS
  
  Français (2021) Glycogénose de Type III (GSD III pour Glycogen Storage Disease Type III) - PNDS
  
  Français (2021) Glycogénose de Type III (GSD III pour Glycogen Storage Disease Type III) - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Glycogen storage disease due to hepatic glycogen synthase deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Glycogénoses types 0 - 6 - 9 - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Emergency guidelines
  Français (2023) Glycogénoses types 0 - 6 - 9 - G2M
Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Glycogénoses types 0 - 6 - 9 - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
- Clinical genetics review
  English (2019) - GeneReviews
Glycogen storage disease due to liver phosphorylase kinase deficiency
- Emergency guidelines
  Français (2023) Glycogénoses types 0 - 6 - 9 - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Glycogénoses types 0 - 6 - 9 - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2019) Glycogénose de Type V, Maladie de Mc Ardle - PNDS
  
  Français (2019) Glycogénose de Type V, Maladie de Mc Ardle - PNDS
- Clinical genetics review
  English (2019) Glycogen Storage Disease Type V - GeneReviews
- Guidance for genetic testing
  English (2018.pdf) - Eur J Hum Genet
Glycogen storage disease due to muscle phosphofructokinase deficiency
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Glycogen storage disease due to phosphorylase kinase deficiency
- Emergency guidelines
  Français (2023) Glycogénoses types 0 - 6 - 9 - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
- Clinical genetics review
  English (2018) Phosphorylase Kinase Deficiency - GeneReviews
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
GM1 gangliosidosis
- Clinical genetics review
  English (2021) - GeneReviews
GM1 gangliosidosis type 1
- Clinical genetics review
  English (2021) - GeneReviews
GM1 gangliosidosis type 2
- Clinical genetics review
  English (2021) - GeneReviews
GM1 gangliosidosis type 3
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2021) GLB1-Related Disorders - GeneReviews
GM2 gangliosidosis
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
GM2 gangliosidosis, AB variant
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
- Clinical genetics review
  English (2022) GM2 Activator Deficiency - GeneReviews
GM3 synthase deficiency
- Clinical genetics review
  English (2023) GM3 Synthase Deficiency - GeneReviews
GMPPB-related limb-girdle muscular dystrophy R19
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
GNAO1-related developmental delay-seizures-movement disorder spectrum
- Clinical genetics review
  English (2023) GNAO1-Related Disorder - GeneReviews
Gnathodiaphyseal dysplasia
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
GNB5-related intellectual disability-cardiac arrhythmia syndrome
- Clinical genetics review
  English (2021) - GeneReviews
GNE myopathy
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2021) Myosite à inclusions sporadique - PNDS
- Clinical genetics review
  English (2020) GNE Myopathy - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Goblet cell carcinoma
- Clinical practice guidelines
  English (2021) Appendiceal tumours and pseudomyxoma peritonei: Literature review with PSOGI/EURACAN clinical practice guidelines for diagnosis and treatment - Eur J Surg Oncol
  
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
Goldberg-Shprintzen megacolon syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Gonadal germ cell tumor
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2017) - PDQ Cancer Inf Sum
Gonadoblastoma
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Gordon syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Gorham-Stout disease
- Clinical practice guidelines
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
- Review article
  English (2014) - Bone
Gorlin syndrome
- Anesthesia guidelines
  Suomi (2021.pdf) - Orphanet
- Clinical practice guidelines
  English (2011) Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) - Am J Med Genet
  
  English (2022) A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome) - Br J Dermatol
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Nevoid Basal Cell Carcinoma Syndrome - GeneReviews
- Diagnostic criteria
  English (2005) Early recognition of basal cell naevus syndrome - Eur J Pediatr
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Graft versus host disease
- Clinical practice guidelines
  English (2017) The EBMT-ELN working group recommendations on the prophylaxis and treatment of GvHD: a change-control analysis - Bone Marrow Transplant
- Review article
  English (2007) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Grant syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Granular corneal dystrophy type I
- Review article
  English (2009) - Orphanet J Rare Dis
Granular corneal dystrophy type II
- Review article
  English (2009) - Orphanet J Rare Dis
Granulomatosis with polyangiitis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2014) - SNFMI
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Clinical practice guidelines
  Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  Deutsch (2013) - AWMF
  
  Deutsch (2024) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2020) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis - Arthritis Rheumatol
  
  English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Granulomatous slack skin
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gray platelet syndrome
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Grayson-Wilbrandt corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Greenberg dysplasia
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Chondrodysplasies ponctuées : déficit de la biosynthèse du cholestérol et déficit en arylsulfatase E. - PNDS
Greig cephalopolysyndactyly syndrome
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
GRFoma
- Clinical practice guidelines
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
- Review article
  English (2012) Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances - Best Pract Res Clin Gastroenterol
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Article for general public
  English (2022.pdf) GRIN2B-related neurodevelopmental disorder - Unique
  
  Nederlands (2016.pdf) GRIN2B syndroom - Unique
  
  Русский (2016.pdf) GRIN2B-related neurodevelopmental disorder - Unique
- Clinical genetics review
  English (2021) - GeneReviews
Griscelli syndrome
- Article for general public
  Español (2018) - ALBA
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Griscelli syndrome type 1
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Griscelli syndrome type 2
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Review article
  Deutsch (2020) - Onkopedia
  
  English (2013) - Orphanet J Rare Dis
Griscelli syndrome type 3
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Growing teratoma syndrome
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2017) - PDQ Cancer Inf Sum
Growth delay due to insulin-like growth factor type 1 deficiency
- Clinical practice guidelines
  Deutsch (2023) - AWMF
GTP cyclohydrolase I deficiency
- Clinical practice guidelines
  English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
- Review article
  English (2005.pdf) - Orphanet
Guanidinoacetate methyltransferase deficiency
- Clinical genetics review
  English (2022) Creatine Deficiency Disorders - GeneReviews
Guillain-Barré syndrome
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Deutsch (2014.pdf) - ACHSE
- Clinical practice guidelines
  Français (2021) Syndrome de Guillain-Barré - PNDS
  
  Deutsch (2024) - AWMF
  
  Deutsch (2019) - AWMF
- Review article
  English (2008.pdf) - Thieme
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Gynandroblastoma
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  English (2012) Management of Ovarian and Testicular Sex Cord-stromal Tumors in Children and Adolescents - J Pediatr Hematol Oncol
Gyrate atrophy of choroid and retina
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
Gómez-López-Hernández syndrome
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia

Knowledge on rare diseases and orphan drugs

Encyclopaedia

ALPHABETICAL LIST

ALPHABETICAL LIST

ORPHANET USER SATISFACTION SURVEY 2025