Knowledge on rare diseases and orphan drugs

269 Result(s)

• Ear-patella-short stature syndrome
  • Review article

    English (2015) - Orphanet J Rare Dis
    
• Early infantile developmental and epileptic encephalopathy
  • Article for general public

    English (2022.pdf) CASK-related disorders - Unique
    

    English (2016.pdf) SCN2A related conditions - Unique
    

    Русский (2016.pdf) SCN2A related conditions - Unique
    

    Русский (2022.pdf) CASK-related disorders - Unique
    

    Italiano (2016.pdf) Condizioni Mediche Collegate Al Gene SCN2A - Unique
    
  • Clinical practice guidelines

    Français (2022) Epilepsies néonatales - PNDS
    
  • Review article

    English (2012) Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy - Pediatr neurol
    
  • Clinical genetics review

    English (2023) STXBP1 Encephalopathy with Epilepsy - GeneReviews
    
• Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
  • Clinical genetics review

    English (2024) Haploinsufficiency of A20 - GeneReviews
    
• Early-onset autosomal dominant Alzheimer disease
  • Clinical genetics review

    English (2012) - GeneReviews
    
• Early-onset calcifying leukoencephalopathy-skeletal dysplasia
  • Clinical genetics review

    English (2024) CSF1R-Related Disorder - GeneReviews
    
• Early-onset cerebellar ataxia with retained tendon reflexes
  • 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
    
• Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  • Article for general public

    English (2016.pdf) GRIN2A related syndrome - Unique
    

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    

    ქართული (2016.pdf) GRIN2A related syndrome - Unique
    
  • Clinical genetics review

    English (2024) GRIN2A-Related Speech Disorders and Epilepsy - GeneReviews
    
• Early-onset generalized limb-onset dystonia
  • Clinical practice guidelines

    English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
    
  • Review article

    English (2006.pdf) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2017) Hereditary Dystonia Overview - GeneReviews
    

    English (2016) - GeneReviews
    
• Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Early-onset myopathy with fatal cardiomyopathy
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    

    English (2025) Salih Myopathy - GeneReviews
    
• Early-onset obesity-hyperphagia-severe developmental delay syndrome
  • Clinical practice guidelines

    Français (2021) Générique obésités de causes rares - PNDS
    
• Early-onset progressive encephalopathy with migrant continuous myoclonus
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy 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
    

    Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
    

    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
    
  • Clinical genetics review

    English (2025) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
    
• Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
  • Emergency guidelines

    Français (2020.pdf) Déficits immunitaires humoraux chez l'adulte - Orphanet Urgences
    
• Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
  • Clinical practice guidelines

    Français (2024) Neutropénies chroniques - PNDS
    
  • Review article

    English (2025) Hemophagocytic Lymphohistiocytosis - N Engl J Med
    
• Early-onset spastic ataxia-myoclonic epilepsy-neuropathy 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
    
• EAST 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
    
• East Texas bleeding disorder
  • Clinical practice guidelines

    Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
    
• Eastern equine encephalitis
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    
• Eating reflex epilepsy
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• Ebola hemorrhagic fever
  • Article for general public

    Français (2016) - Minist Santé et Prévention
    
• Ebstein malformation of the tricuspid valve
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    

    Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez l’adulte - PNDS
    

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    

    Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez l’adulte - PNDS
    

    Deutsch (2021) - AWMF
    
• EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
• EBV-induced lymphoproliferative disease due to CD70 deficiency
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
• Ectasia of the left atrial appendage
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Ectasia of the right atrial appendage
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Ectodermal dysplasia-blindness syndrome
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    

    Français (2022) Microphtalmie - Anophtalmie - PNDS
    
  • Guidance for genetic testing

    English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
    
• Ectodermal dysplasia-skin fragility syndrome
  • Article for general public

    Français (2012.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Ectopia cordis
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Ectopic aldosterone-producing tumor
  • Clinical practice guidelines

    English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
    
• EDICT syndrome
  • Clinical practice guidelines

    Français (2021) Kératocône - PNDS
    
• EEC syndrome
  • Clinical genetics review

    English (2021) TP63-Related Disorders - GeneReviews
    
• Ehlers-Danlos syndrome
  • Emergency guidelines

    Français (2017.pdf) Syndrome d’Ehlers-Danlos vasculaire (SEDv - SED de type IV) - Orphanet Urgences
    

    Polski (2009.pdf) Zespol Ehlersa i Danlosa typu IV - Orphanet Urgences
    

    Deutsch (2009.pdf) Ehlers-Danlos-Syndrom Typ IV - Orphanet Urgences
    

    English (2009.pdf) Type IV Ehlers-Danlos Syndrome - Orphanet Urgences
    

    Español (2009.pdf) Síndrome de Ehlers-Danlos de tipo IV - Orphanet Urgences
    

    Italiano (2009.pdf) Sindrome di Ehlers-Danlos tipo IV - Orphanet Urgences
    

    Português (2009.pdf) Síndrome de Ehlers-Danlos do tipo IV - Orphanet Urgences
    
  • Anesthesia guidelines

    Deutsch (2019) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Syndrome d’Ehlers-Danlos Non Vasculaire (SED NV) - PNDS
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    

    English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
    

    English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    
  • Review article

    Français (2023) Le syndrome d’Ehlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
    
• Ehlers-Danlos/osteogenesis imperfecta syndrome
  • Emergency guidelines

    Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
    

    Polski (2008.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
    

    Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
    

    English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
    

    Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
    

    Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
    

    Português (2008.pdf) Osteogénese Imperfeita - Orphanet Urgences
    
  • Anesthesia guidelines

    Deutsch (2019) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • 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
    
• Eiken 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
    
• Eisenmenger syndrome
  • Article for general public

    Français (2022) - ELF
    

    Polski (2022) - ELF
    

    Deutsch (2022) - ELF
    

    Українська (2021.pdf) - ELF
    

    Ελληνικά (2022) - ELF
    

    English (2023) - ELF
    

    Español (2022) - ELF
    

    Svenska (2022) - Socialstyrelsen
    

    Русский (2022) - ELF
    

    Italiano (2022) - ELF
    
  • Anesthesia guidelines

    Deutsch (2016) - Orphananesthesia
    

    English (2016) - Orphananesthesia
    

    Español (2016) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Hypertension artérielle pulmonaire - PNDS
    

    English (2016) 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT) - Eur Heart J
    

    English (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
    

    English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
    

    English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
    
  • Review article

    English (2013) - Orphanet J Rare Dis
    
• Ellis Van Creveld syndrome
  • Article for general public

    Deutsch (2015.pdf) - BVHK
    

    Svenska (2019) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2013) - Orphananesthesia
    

    Čeština (2018) - Orphananesthesia
    

    Português (2018) - Orphananesthesia
    
  • Review article

    English (2007) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2023) Ellis-van Creveld Syndrome - GeneReviews
    
  • Guidance for genetic testing

    Deutsch (2015.pdf) - Kardiologe
    
• Emanuel syndrome
  • Article for general public

    Français (2014.pdf) Emanuel Syndrome - Unique
    

    English (2014.pdf) Emanuel Syndrome - Unique
    

    Español (2014.pdf) Emanuel Syndrome Spanish - Unique
    

    Svenska (2018) - Socialstyrelsen
    

    Русский (2014.pdf) Emanuel Syndrome - Unique
    
  • Clinical genetics review

    English (2017) Emanuel Syndrome - GeneReviews
    
• Embryonal carcinoma
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Embryonal carcinoma of the central nervous system
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    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
    
• Embryonal rhabdomyosarcoma
  • Article for general public

    English (2017) - PDQ Cancer Inf Sum
    
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    

    English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    

    English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
  • Review article

    English (2016) - PDQ Cancer Inf Sum
    
• Embryonal tumor of neuroepithelial tissue
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    

    English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
    
• Emery-Dreifuss muscular dystrophy
  • Article for general public

    Svenska (2022) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    

    English (2025) Emery-Dreifuss Muscular Dystrophy - GeneReviews
    
• Enamel-renal syndrome
  • Clinical practice guidelines

    Français (2021) Amélogenèses imparfaites - PNDS
    
  • Review article

    English (2014) - Orphanet J Rare Dis
    
• Encephalitis
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    
• Encephalitis lethargica
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    
• Encephalocraniocutaneous lipomatosis
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Encephalopathy due to sulfite oxidase deficiency
  • Clinical genetics review

    English (2017) Isolated Sulfite Oxidase Deficiency - GeneReviews
    
• Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • Clinical practice guidelines

    English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Encircling double aortic arch
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Endemic pemphigus foliaceus
  • Clinical practice guidelines

    English (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
    

    English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
    

    English (2020) Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV) - J Eur Acad Dermatol Venereol
    
• Endocardial fibroelastosis
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Endocrine-cerebro-osteodysplasia syndrome
  • Clinical practice guidelines

    English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
    
• Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
  • Review article

    Français (2009.pdf) - Ann Endocrinol
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Endogenous Cushing syndrome
  • Clinical practice guidelines

    Français (2022) Syndrome de Cushing - PNDS
    

    Deutsch (2020) - AWMF
    
• Endometrial stromal sarcoma
  • Article for general public

    Français (2013) - INCa
    
• Endometrioid carcinoma of ovary
  • Article for general public

    Français (2010) - INCa
    
  • Clinical practice guidelines

    Français (2010) - ALD
    

    Deutsch (2024) - AWMF
    

    Deutsch (2024) - AWMF
    
• Enlarged parietal foramina
  • Review article

    English (2013) Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment - Childs Nerv Syst
    
  • Clinical genetics review

    English (2025) Enlarged Parietal Foramina - GeneReviews
    
• Enthesitis-related juvenile idiopathic arthritis
  • Article for general public

    Norsk (2016) - PRINTO/PRES
    

    Français (2009.pdf) - Orphanet
    

    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
    

    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
    
  • Emergency guidelines

    Français (2025.pdf) Arthrite idiopathique juvénile systémique - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2017) Pneumopathies interstitielles diffuses de l’enfant - PNDS
    

    Français (2019) Fragilités osseuses secondaires de l’enfant - PNDS
    

    Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
    

    Français (2017) Arthrites Juvéniles Idiopathiques - PNDS
    

    Deutsch (2019) - AWMF
    

    English (2022) 2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis - Arthritis Rheumatol
    
  • Diagnostic Keys

    Français (2022) Arthrite - Les clés du diagnostic
    
  • Review article

    English (2025) Juvenile Idiopathic Arthritis - N Engl J Med
    

    English (2012) Diagnosis and treatment of enthesitis-related arthritis - Adolesc Health Med Ther
    
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• Eosinophilic angiocentric fibrosis
  • Article for general public

    Français (2014) - SNFMI
    

    Svenska (2016) - Socialstyrelsen
    
  • Clinical practice guidelines

    English (2024) Identification of red flags for IgG4-related disease: an international European Reference Network for Rare Connective Tissue Diseases framework - Lancet Rheumatol
    
  • Review article

    English (2014) - Orphanet J Rare Dis
    
  • Diagnostic criteria

    English (2014) IgG4- related disease: an orphan disease with many faces - Orphanet J Rare Dis
    
  • Diagnostic Keys

    Français (2024) Eosinophilie – Hyperéosinophilie - Les clés du diagnostic
    
• Eosinophilic fasciitis
  • Clinical practice guidelines

    Deutsch (2022) - AWMF
    
• Eosinophilic gastroenteritis
  • Emergency guidelines

    Français (2018.pdf) Syndromes hyperéosinophiliques - Orphanet Urgences
    
• Eosinophilic granulomatosis with polyangiitis
  • Article for general public

    Français (2007.pdf) - Orphanet
    

    Deutsch (2017.pdf) - ACHSE
    

    Svenska (2020) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2018.pdf) Syndromes hyperéosinophiliques - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
    

    Deutsch (2023) - 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
    
  • Review article

    Français (2008.pdf) - Rev Praticien
    
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Ependymal tumor
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    Deutsch (2023) - AWMF
    

    Deutsch (2024) - AWMF
    

    English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
    
• Ependymoma
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    

    English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
    
• EPHB4-related capillary malformation-arteriovenous malformation
  • Clinical practice guidelines

    Français (2021) Les malformations artério-veineuses superficielles - PNDS
    

    English (2025) The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Capillary Malformations - J Vasc Anom (Phila)
    

    English (2025) Diagnosis and management of superficial arteriovenous malformations: French healthcare network recommendations - Orphanet J Rare Dis
    
• EPHB4-related lymphatic-related hydrops fetalis
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Epidermolysis bullosa acquisita
  • Clinical practice guidelines

    Français (2016) Maladies bulleuses auto-immunes : Épidermolyse bulleuse acquise - PNDS
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Español (2017.pdf) - Wounds International
    
• Epidermolysis bullosa simplex
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Svenska (2024) - Socialstyrelsen
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2020) - Orphananesthesia
    

    Čeština (2020) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex due to BP230 deficiency
  • Article for general public

    Français (2015.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Svenska (2024) - Socialstyrelsen
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Anesthesia guidelines

    English (2011) - Orphananesthesia
    

    Čeština (2011) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2025) Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update - Orphanet J Rare Dis
    
  • Disability factsheet

    Français (2015.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex due to exophilin 5 deficiency
  • Article for general public

    Français (2015.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Svenska (2024) - Socialstyrelsen
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Anesthesia guidelines

    English (2011) - Orphananesthesia
    

    Čeština (2011) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2025) Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update - Orphanet J Rare Dis
    
  • Disability factsheet

    Français (2015.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex with anodontia/hypodontia
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2020) - Orphananesthesia
    

    Čeština (2020) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex with circinate migratory erythema
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Svenska (2024) - Socialstyrelsen
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2025) Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update - Orphanet J Rare Dis
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex with extracutaneous involvement
  • Article for general public

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Clinical practice guidelines

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    
• Epidermolysis bullosa simplex with mottled pigmentation
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    Svenska (2024) - Socialstyrelsen
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2025) Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex with muscular dystrophy
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2015) - Orphananesthesia
    

    Español (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex with pyloric atresia
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Epidermolysis bullosa simplex without extracutaneous involvement
  • Article for general public

    English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Children’s Hospital
    

    Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Children’s Hospital
    
  • Clinical practice guidelines

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    
  • Review article

    English (2025) Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update - Orphanet J Rare Dis
    
• Epidermolytic nevus
  • 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
    
• Epignathus
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    
• Epilepsy of infancy with migrating focal seizures
  • Article for general public

    English (2016.pdf) SCN2A related conditions - Unique
    

    Русский (2016.pdf) SCN2A related conditions - Unique
    

    Italiano (2016.pdf) Condizioni Mediche Collegate Al Gene SCN2A - Unique
    
  • Clinical genetics review

    English (2024) TBC1D24-Related Disorders - GeneReviews
    

    English (2024) TBC1D24-Related Disorders - GeneReviews
    

    English (2018) KCNT1-Related Epilepsy - GeneReviews
    

    English (2019) SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures - GeneReviews
    
• Epilepsy with auditory features
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
  • Clinical genetics review

    English (2023) DEPDC5-Related Epilepsy - GeneReviews
    

    English (2019) - GeneReviews
    
• Epilepsy with eyelid myoclonia
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• Epilepsy with myoclonic absences
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• Epilepsy with myoclonic-atonic seizures
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
  • Review article

    English (2025) Epilepsy with myoclonic-atonic seizures: an update on genetic causes, nosological limits, and treatment strategies - Lancet Neurol
    

    English (2010) Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress - Dev Med Child Neurol
    
  • Clinical genetics review

    English (2021) CHD2-Related Neurodevelopmental Disorders - GeneReviews
    

    English (2021) CHCHD10-Related Disorders - GeneReviews
    

    English (2023) SLC6A1-Related Neurodevelopmental Disorder - GeneReviews
    
• Epilepsy with reading-induced seizures
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• Episodic ataxia type 1
  • 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
    

    Deutsch (2023) - AWMF
    

    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
    
  • Clinical genetics review

    English (2018) - GeneReviews
    
• Episodic ataxia type 3
  • 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
    
• Episodic ataxia type 4
  • 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
    
• Episodic ataxia type 5
  • 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
    
• Episodic ataxia type 6
  • 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
    
• Episodic ataxia type 7
  • 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
    
• Episodic ataxia with slurred speech
  • 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
    
• Epithelial basement membrane dystrophy
  • Review article

    English (2009) - Orphanet J Rare Dis
    
• Epithelial recurrent erosion dystrophy
  • Review article

    English (2009) - Orphanet J Rare Dis
    
• Epithelial tumor of the appendix
  • 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
    
• Epithelioid hemangioendothelioma
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Clinical practice guidelines

    English (2021) Epithelioid hemangioendothelioma, an ultra-rare cancer: a consensus paper from the community of experts - ESMO Open
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Epithelioid sarcoma
  • Article for general public

    English (2017) - PDQ Cancer Inf Sum
    
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    

    English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Epithelioid trophoblastic tumor
  • 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
    
• Epstein-Barr virus-associated gastric carcinoma
  • Clinical practice guidelines

    Deutsch (2019) - AWMF
    
• Epstein-Barr virus-associated malignant lymphoproliferative disorder
  • Review article

    English (2012.pdf) - Blood Cancer J
    
• Epstein-Barr virus-positive diffuse large B-cell lymphoma
  • Review article

    Deutsch (2022) - Onkopedia
    
• Erdheim-Chester disease
  • Anesthesia guidelines

    English (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    

    English (2020) Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era - Blood
    
  • Review article

    Français (2014) Maladie d’Erdheim-Chester - Rev Med Interne
    

    English (2013) - Orphanet J Rare Dis
    
• Erythema multiforme major
  • Article for general public

    Deutsch (2019.pdf) - Kindernetzwerk e.V.
    
• Erythrocyte galactose epimerase deficiency
  • Article for general public

    Svenska (2021) - Socialstyrelsen
    
  • Clinical genetics review

    English (2021) - GeneReviews
    
• Erythrokeratodermia variabilis
  • 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
    
• Erythrokeratodermia-cardiomyopathy syndrome
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Erythropoietic uroporphyria associated with myeloid malignancy
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
• Esophageal atresia
  • Article for general public

    Français (2008.pdf) - Orphanet
    

    Deutsch (2016.pdf) - ACHSE
    

    Svenska (2020) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2019.pdf) Atrésie de l'oesophage - Orphanet Urgences
    

    Italiano (2015.pdf) Atresia dell’esofago - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2018) Atrésie de l'oesophage - PNDS
    

    Deutsch (2019) - AWMF
    

    English (2020) ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Follow-up and Framework - Eur J Pediatr Surg
    

    English (2021) ERNICA Consensus Conference on the Management of Patients with Long-Gap Esophageal Atresia: Perioperative, Surgical, and Long-Term Management - Eur J Pediatr Surg
    

    English (2020) ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Diagnostics, Preoperative, Operative, and Postoperative Management - Eur J Pediatr Surg
    

    English (2016) ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula - J Pediatr Gastroenterol Nutr
    

    English (2020) Care recommendations for the respiratory complications of esophageal atresia-tracheoesophageal fistula - Pediatr Pulmonol
    

    English (2023) The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia-tracheoesophageal fistula - Nat Rev Gastroenterol Hepatol
    
  • Review article

    English (2007) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2018) - GeneReviews
    
• Essential thrombocythemia
  • Article for general public

    Deutsch (2016.pdf) - MPN-Netzwerk
    
  • Clinical practice guidelines

    English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
    

    English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
    

    English (2010) Guideline for investigation and management of adults and children presenting with a thrombocytosis - Br J Haematol
    

    English (2013) Revised response criteria for polycythemia vera and essential thrombocythemia: an ELN and IWG-MRT consensus project - Blood
    
  • Review article

    Deutsch (2014) - Onkopedia
    

    English (2007) - Orphanet J Rare Dis
    
• Esthesioneuroblastoma
  • Clinical practice guidelines

    English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
    
• Ethylmalonic encephalopathy
  • Clinical genetics review

    English (2017) - GeneReviews
    
• Evans syndrome
  • Clinical practice guidelines

    Français (2024) Anémies Hémolytiques Auto-Immunes de l’adulte - PNDS
    

    Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS
    
  • Diagnostic Keys

    Français (2025) Anémie normo ou macrocytaire (VGM >98 fl) chez l’adulte - Les clés du diagnostic
    
• EVEN-plus syndrome
  • Clinical practice guidelines

    English (2025) ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics - Eur J Pediatr Surg
    

    English (2025) European Reference Network eUROGEN Guidelines on the Management of Anorectal Malformations, Part II: Treatment - Eur J Pediatr Surg
    

    English (2025) ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care - Eur J Pediatr Surg
    

    English (2025) ERN eUROGEN Guidelines on the Management of Anorectal Malformations, Part IV: Organization of Care and Communication between Providers - Eur J Pediatr Surg
    
• Exercise-induced hyperinsulinism
  • Review article

    English (2011) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2024) Nonsyndromic Genetic Hyperinsulinism Overview - GeneReviews
    
• Exercise-induced malignant hyperthermia
  • Emergency guidelines

    Français (2023) Rhabdomyolyse par mutation du gène RYR1 - G2M
    

    Français (2017.pdf) Hyperthermie maligne induite par l'exercice - Orphanet Urgences
    

    Español (2018.pdf) Hipertermia maligna inducida por el ejercicio - Orphanet Urgences
    
  • Review article

    English (2015) - Orphanet J Rare Dis
    
• Exfoliative ichthyosis
  • Article for general public

    Svenska (2017) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Ichthyoses héréditaires - PNDS
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    

    English (2023) Autosomal Recessive Congenital Ichthyosis - GeneReviews
    
• EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
  • Clinical genetics review

    English (2025) EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity - GeneReviews
    
• Exposure-related interstitial lung disease
  • Clinical practice guidelines

    English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
    
• Exstrophy-epispadias complex
  • Clinical practice guidelines

    Français (2024) Transplantation rénale chez l’enfant - PNDS
    

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    

    Deutsch (2024) - AWMF
    
  • Review article

    English (2009) - Orphanet J Rare Dis
    
• Extracutaneous mastocytoma
  • Clinical practice guidelines

    Français (2022) Mastocytoses non-avancées chez l’adulte - PNDS
    

    English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
    
  • Diagnostic Keys

    Français (2024) Eosinophilie – Hyperéosinophilie - Les clés du diagnostic
    
• Extragonadal germ cell tumor
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Extragonadal germinoma
  • Clinical practice guidelines

    English (2011.pdf) - BNOS
    
• Extragonadal non-dysgerminomatous germ cell tumor
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Extramammary Paget disease
  • Clinical practice guidelines

    English (2021) Multidisciplinary Approach for the Management of Penoscrotal Extramammary Paget's disease -An eUROGEN study - Urol Oncol
    
• Extramedullary conus spinal cord lipoma
  • Clinical practice guidelines

    Français (2021) Spina Bifida – Dysraphismes - Gestion du handicap intestinal - PNDS
    

    Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
    

    Français (2015) Prise en charge en médecine physique et de réadaptation du patient atteint de Spina Bifida - PNDS
    

    English (2025.pdf) EAU – ESPU - ERN eUROGEN - ERN ITHACA - ERN ERKN et - IFSBH Guidelines on spinal dysraphism in children and adolescents -
    
• Extranodal nasal NK/T cell lymphoma
  • Review article

    English (2013) - Orphanet J Rare Dis
    
• Extrapelvic endometriosis
  • Clinical practice guidelines

    English (2020) Clinical practice guidelines for the treatment of extragenital endometriosis in Japan, 2018 - J Obstet Gynaecol Res
    
• Extraskeletal Ewing sarcoma
  • Article for general public

    English (2017) - PDQ Cancer Inf Sum
    
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    

    English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
  • Review article

    English (2016) - PDQ Cancer Inf Sum
    
• Extraskeletal myxoid chondrosarcoma
  • Article for general public

    English (2017) - PDQ Cancer Inf Sum
    
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    

    English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
• Extraventricular neurocytoma
  • Clinical practice guidelines

    English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol