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Jackson-Weiss syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2020) - GeneReviews
Jacobsen syndrome
- Article for general public
  Français (2007) Deletion 11q Terminale (syndrome De Jacobsen) - Unique
  
  Deutsch (2009.pdf) 11q Deletion Disorder Jacobsen Syndrome German - Unique
  
  English (2019.pdf) 11q Deletion Disorder Jacobsen Syndrome - Unique
  
  Español (2005) 11q El Trastorno Por Supresion Terminal Sindrome De Jacobsen Spanish - Unique
  
  Nederlands (2005.pdf) Terminale deletie11q: Jacobsen syndroom - Unique
  
  Svenska (2018) - Socialstyrelsen
  
  Русский (2016.pdf) 11q Deletion Disorder Jacobsen Syndrome - Unique
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Review article
  English (2009) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Jalili syndrome
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Japanese encephalitis
- Clinical practice guidelines
  Deutsch (2018) - AWMF
Jawad syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Jejunal neuroendocrine tumor
- Clinical practice guidelines
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
Jervell and Lange-Nielsen syndrome
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2015.pdf) Syndrome du QT long - Orphanet Urgences
  
  Español (2008.pdf) Síndrome de QT largo familiar - Orphanet Urgences
  
  Italiano (2015.pdf) Sindrome del QT lungo - Orphanet Urgences
  
  Italiano (2008.pdf) Sindrome familiare del QT lungo - Orphanet Urgences
  
  Português (2008.pdf) Síndrome do QT longo familiar - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndrome du QT Long - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Long QT Syndrome - GeneReviews
  
  English (2020) - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2016.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Johanson-Blizzard syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
  
  English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Joubert syndrome
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  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
  
  Svenska (2024) - Socialstyrelsen
  
  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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - 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
  
  English (2020) Healthcare recommendations for Joubert syndrome - Am J Med Genet
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) Joubert Syndrome - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Joubert syndrome and related disorders
- 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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Joubert Syndrome - GeneReviews
  
  English (2007.pdf) - Eur J Hum Genet
Joubert syndrome with hepatic defect
- 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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - PNDS
  
  Français (2024) Colobomes oculaires - 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
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) Joubert Syndrome - GeneReviews
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- 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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - 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 (2017) Joubert Syndrome - GeneReviews
Joubert syndrome with ocular defect
- 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 (2016) - GuíaSalud
  
  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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - 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
  
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) Joubert Syndrome - GeneReviews
Joubert syndrome with oculorenal defect
- 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 (2016) - GuíaSalud
  
  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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - PNDS
  
  Français (2024) Colobomes oculaires - 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
  
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) - GeneReviews
Joubert syndrome with renal defect
- 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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) - GeneReviews
Junctional epidermolysis bullosa
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- 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 (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 (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  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) 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 (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Junctional epidermolysis bullosa inversa
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- 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 (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 (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  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) 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 (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Junctional epidermolysis bullosa with pyloric atresia
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- 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 (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 (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  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) 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 (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Epidermolysis Bullosa with Pyloric Atresia - GeneReviews
  
  English (2018) Junctional Epidermolysis Bullosa - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Jung syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Juvenile absence epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Juvenile amyotrophic lateral sclerosis
- Clinical practice guidelines
  Français (2021) Génétique de la Sclérose Latérale Amyotrophique - PNDS
  
  Français (2015) Sclérose latérale amyotrophique - PNDS
- Clinical genetics review
  English (2021) ALS2-Related Disorders - GeneReviews
  
  English (2023) Amyotrophic Lateral Sclerosis Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Juvenile dermatomyositis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2013.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
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Svenska (2015) - Socialstyrelsen
  
  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 (2015.pdf) Dermatomyosite juvénile et dermatomyosite de ladulte - Orphanet Urgences
  
  Español (2017.pdf) Dermatomiositis juvenil y dermatomiositis del adulto - Orphanet Urgences
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
  
  Français (2016) Dermatomyosite de lenfant et de ladulte - PNDS
  
  Français (2016) Dermatomyosite de lenfant et de ladulte - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
  
  English (2017) Consensus-based recommendations for the management of juvenile dermatomyositis - Ann Rheum Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Review article
  English (2012) Juvenile dermatomyositis: new insights and new treatment strategies - Ther Adv Musculoskelet Dis
- Disability factsheet
  Français (2015.pdf) - Orphanet
Juvenile glaucoma
- Article for general public
  Deutsch (2016.pdf) - ACHSE
Juvenile Huntington disease
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2017.pdf) Maladie de Huntington - Orphanet Urgences
  
  Deutsch (2008.pdf) Huntington-Krankheit - Orphanet Urgences
  
  Español (2017.pdf) Enfermedad de Huntington - Orphanet Urgences
  
  Italiano (2008.pdf) Malattia di Huntington - Orphanet Urgences
Juvenile hyaline fibromatosis
- Clinical genetics review
  English (2023) Hyalinosis, Inherited Systemic - GeneReviews
Juvenile idiopathic arthritis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  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
- Emergency guidelines
  Français (2015.pdf) Arthrite idiopathique juvénile systémique - Orphanet Urgences
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
  
  Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
  
  Français (2017) Arthrites Juvéniles Idiopathiques - PNDS
  
  Deutsch (2021) - AWMF
  
  Deutsch (2021) - AWMF
  
  Deutsch (2019) - AWMF
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
  
  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 (2023) Uvéite - Les clés du diagnostic
  
  Français (2022) Arthrite - Les clés du diagnostic
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Juvenile idiopathic inflammatory myopathy
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Juvenile myasthenia gravis
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Myasthénie autoimmune - PNDS
  
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Deutsch (2022) - AWMF
- Review article
  English (2007) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Juvenile myoclonic epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Clinical genetics review
  English (2023) KCNQ3-Related Disorders - GeneReviews
Juvenile nasopharyngeal angiofibroma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Juvenile nephronophthisis
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
- Clinical genetics review
  English (2023) Nephronophthisis-Related Ciliopathies - GeneReviews
Juvenile nephropathic cystinosis
- Article for general public
  English (2017) - Cystinosis United
  
  Svenska (2017) - Socialstyrelsen
- Clinical practice guidelines
  Français (2018) Cystinose - PNDS
  
  English (2016) 'Controversies and research agenda in nephropathic cystinosis: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
  
  English (2019) Management of bone disease in cystinosis: Statement from an international conference - J Inherit Metab Dis
  
  English (2014) Nephropathic cystinosis: an international consensus document - Nephrol Dial Transplant
- Review article
  English (2016) Cystinosis: a review - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Cystinosis - GeneReviews
- 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
Juvenile or adult CACH syndrome
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
Juvenile overlap myositis
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Juvenile polymyositis
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Juvenile polyposis of infancy
- 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
Juvenile polyposis syndrome
- 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
Juvenile primary lateral sclerosis
- Clinical genetics review
  English (2021) ALS2-Related Disorders - GeneReviews
  
  English (2021) ALS2-Related Disorder - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration 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
Juvenile-onset Steinert myotonic dystrophy
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Dystrophie Myotonique de type 1 'Maladie de Steinert' - PNDS
  
  English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2009) - ANPGM
Juxtaposition of the atrial appendages
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS