Knowledge on rare diseases and orphan drugs

375 Result(s)

• Nager syndrome
  • Article for general public

    Deutsch (2020.pdf) - Kindernetzwerk e.V.
    
  • Anesthesia guidelines

    English (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    

    English (2024) Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts - J Craniofac Surg
    
• Nail-patella syndrome
  • Clinical practice guidelines

    Français (2020) Syndrome Nail-Patella - PNDS
    

    English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
    
  • Clinical genetics review

    English (2023) Nail-Patella Syndrome - GeneReviews
    
• Nail-patella-like renal disease
  • Clinical practice guidelines

    English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
    
• Nanophthalmos
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    

    Français (2022) Microphtalmie - Anophtalmie - PNDS
    
  • Clinical genetics review

    English (2015) - GeneReviews
    
  • Guidance for genetic testing

    English (2017) - Eur J Hum Genet
    
• Narcolepsy type 1
  • Article for general public

    Français (2006.pdf) - Orphanet
    

    Svenska (2018) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2022.pdf) Narcolepsie type 1 - Orphanet Urgences
    

    Español (2023.pdf) Narcolepsia tipo 1 - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Narcolepsie de type 1 et 2 - PNDS
    
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• Narcolepsy type 2
  • Article for general public

    Svenska (2018) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2021) Narcolepsie de type 1 et 2 - PNDS
    

    Deutsch (2022) - AWMF
    
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• NARP syndrome
  • Article for general public

    Svenska (2021) - Socialstyrelsen
    
  • Anesthesia guidelines

    Deutsch (2018) - Orphananesthesia
    

    English (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
    
  • Clinical genetics review

    English (2024) Mitochondrial DNA-Associated Leigh Syndrome Spectrum - GeneReviews
    
• Nasal ganglioglioma
  • Article for general public

    Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
    
  • Clinical practice guidelines

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

    Français (2024) Colobomes oculaires - PNDS
    
• Nasopharyngeal carcinoma
  • Article for general public

    Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
    
  • Clinical practice guidelines

    Français (2009) - ALD
    

    English (2021) Nasopharyngeal carcinoma: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up† - Ann Oncol
    
  • Review article

    English (2006) - Orphanet J Rare Dis
    
• Nasopharyngeal teratoma
  • Clinical practice guidelines

    Français (2009) - ALD
    

    Deutsch (2021) - AWMF
    
• Nasu-Hakola disease
  • Clinical practice guidelines

    Deutsch (2022) - AWMF
    
  • Clinical genetics review

    English (2020) Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy - GeneReviews
    
• Nathalie syndrome
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Native American myopathy
  • Clinical genetics review

    English (2019) STAC3 Disorder - GeneReviews
    
• Navajo neurohepatopathy
  • Clinical genetics review

    English (2018) - GeneReviews
    
• Naxos disease
  • Emergency guidelines

    Français (2019.pdf) Cardiomyopathie ventriculaire droite arythmogène (CVDA) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2018) - Orphananesthesia
    

    Español (2018) - Orphananesthesia
    

    Čeština (2018) - Orphananesthesia
    

    Português (2018) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy - Heart Rhythm
    
  • Review article

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

    English (2023) Arrhythmogenic Right Ventricular Cardiomyopathy Overview - GeneReviews
    
  • Guidance for genetic testing

    English (2013) - Eur J Hum Genet
    
• NDE1-related microhydranencephaly
  • Clinical practice guidelines

    Deutsch (2019) - AWMF
    
• Necrobiosis lipoidica
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    
• Necrotizing enterocolitis
  • Clinical practice guidelines

    English (2024) European Reference Network for Inherited and Congenital Anomalies Evidence-Based Guideline on Surgical Aspects of Necrotizing Enterocolitis in Premature Neonates - Neonatology
    
• Nelson syndrome
  • Clinical practice guidelines

    English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
    
• Nemaline myopathy
  • Article for general public

    Svenska (2022) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2022) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2012) Consensus Statement on Standard of Care for Congenital Myopathies - J Child Neurol
    
  • Clinical genetics review

    English (2015) - GeneReviews
    
  • Guidance for genetic testing

    English (2012) - Eur J Hum Genet
    
• NEMO deleted exon 5 autoinflammatory syndrome
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Neonatal acute respiratory distress syndrome
  • Clinical practice guidelines

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

    Français (2021) Maladies héréditaires du métabolisme du surfactant - PNDS
    
• Neonatal adrenoleukodystrophy
  • Article for general public

    Svenska (2014) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2021) Adrénoleucodystrophie - PNDS
    

    English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
    
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
  • Clinical genetics review

    English (2020) - GeneReviews
    
  • Guidance for genetic testing

    English (2011) - Eur J Hum Genet
    
• Neonatal alloimmune neutropenia
  • Clinical practice guidelines

    Français (2024) Neutropénies chroniques - PNDS
    
• Neonatal antiphospholipid syndrome
  • Article for general public

    Français (2014) - SNFMI
    

    Français (2008.pdf) - Orphanet
    
  • Anesthesia guidelines

    English (2015) - Orphananesthesia
    

    Español (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2022) Syndrome des Anti-Phospholipides de l’adulte et de l’enfant - PNDS
    

    Español (2020.pdf) - Asoc Española de Pediatría
    
• Neonatal dermatomyositis
  • Clinical practice guidelines

    Français (2019) Fragilités osseuses secondaires de l’enfant - PNDS
    
• Neonatal diabetes mellitus
  • Article for general public

    Svenska (2018) - Socialstyrelsen
    
  • Review article

    English (2007) - Orphanet J Rare Dis
    
• Neonatal encephalomyopathy-cardiomyopathy-respiratory distress 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
    
  • Clinical genetics review

    English (2023) Primary Coenzyme Q10 Deficiency Overview - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
  • 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
    

    English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
    
• Neonatal glycine encephalopathy
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Clinical genetics review

    English (2019) Nonketotic Hyperglycinemia - GeneReviews
    
• Neonatal hemochromatosis
  • Review article

    English (2007) Neonatal hemochromatosis: a congenital alloimmune hepatitis - Semin Liver Dis
    
  • Guidance for genetic testing

    Français (2018.pdf) - ANPGM
    
• Neonatal hypoxic and ischemic brain injury
  • Article for general public

    Español (2014) - GuíaSalud
    
  • Clinical practice guidelines

    Español (2015) - GuíaSalud
    
• Neonatal ichthyosis-sclerosing cholangitis syndrome
  • Clinical practice guidelines

    English (2022) EASL Clinical Practice Guidelines on sclerosing cholangitis - J Hepatol
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    
• Neonatal intrahepatic cholestasis due to citrin deficiency
  • Article for general public

    Suomi (2011.pdf) - EIMD
    

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    اردو (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2011.pdf) - EIMD
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Clinical practice guidelines

    Français (2021) Déficits du cycle de l’urée - PNDS
    

    Deutsch (2020) - AWMF
    
  • Clinical genetics review

    English (2025) Citrin Deficiency - GeneReviews
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    
• Neonatal iodine exposure
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Español (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
• Neonatal lupus erythematosus
  • Clinical practice guidelines

    Français (2024) Lupus Systémique de l'adulte et de l'enfant - PNDS
    
• Neonatal Marfan syndrome
  • Article for general public

    Français (2019.pdf) - Fondation Groupama
    
  • Clinical practice guidelines

    English (2024) 2024 ESC Guidelines for the management of peripheral arterial and aortic diseases - Eur Heart J
    

    English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
  • Clinical practice guidelines

    Deutsch (2009) - AWMF
    
• Neonatal severe primary hyperparathyroidism
  • Clinical practice guidelines

    Deutsch (2016) - AWMF
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
  • 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
    
• Neovascular glaucoma
  • Clinical practice guidelines

    Français (2009) - Canadian Journal of Ophthalmology.
    

    English (2009) Canadian Ophthalmological Society evidence-based clinical practice guidelines for the management of glaucoma in the adult eye - Can J Ophthalmol
    
• Nephroblastoma
  • Clinical practice guidelines

    Deutsch (2016) - AWMF
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Nephronophthisis
  • Clinical practice guidelines

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

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
  • Clinical genetics review

    English (2008.pdf) - Eur J Hum Genet
    

    English (2023) Nephronophthisis-Related Ciliopathies - GeneReviews
    
• Nephropathy-deafness-hyperparathyroidism syndrome
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Nephrotic syndrome without extrarenal manifestations
  • Clinical practice guidelines

    English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
    
• Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
  • 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 (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
    

    English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
    

    Español (2017.pdf) - Wounds International
    
• Netherton syndrome
  • Article for general public

    Svenska (2019) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    
• Neu-Laxova syndrome
  • Clinical genetics review

    English (2023) Serine Deficiency Disorders - GeneReviews
    

    English (2013.pdf) - Eur J Hum Genet
    
• Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
  • Clinical genetics review

    English (2023) Serine Deficiency Disorders - GeneReviews
    
• Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
  • Clinical genetics review

    English (2023) Serine Deficiency Disorders - GeneReviews
    
• Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
  • Clinical genetics review

    English (2023) Serine Deficiency Disorders - GeneReviews
    
• Neuhauser anomaly
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Neuhauser-Eichner-Opitz 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
    
• Neuralgic amyotrophy
  • Article for general public

    English (2011.pdf) - UMC St Radboud
    

    Svenska (2021) - Socialstyrelsen
    
  • Guidance for genetic testing

    English (2010) - Eur J Hum Genet
    
• Neuroacanthocytosis
  • Review article

    English (2011) - Orphanet J Rare Dis
    
• Neuroblastoma
  • Article for general public

    Deutsch (2020.pdf) - Kindernetzwerk e.V.
    
  • Clinical practice guidelines

    Deutsch (2019) - AWMF
    

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

    English (2024) ALK-Related Neuroblastic Tumor Susceptibility - GeneReviews
    
• Neurodegeneration with brain iron accumulation
  • Article for general public

    Deutsch (2017.pdf) - ACHSE
    
  • Clinical practice guidelines

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

    English (2025) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
    
• Neurodegenerative syndrome due to cerebral folate transport deficiency
  • Clinical practice guidelines

    Français (2022) Epilepsies vitamino-sensibles - PNDS
    
  • Clinical genetics review

    English (2024) FOLR1-Related Cerebral Folate Transport Deficiency - GeneReviews
    
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
  • Article for general public

    English (2021.pdf) Au-Kline syndrome - Unique
    

    Русский (2021.pdf) Au-Kline syndrome - Unique
    
  • Clinical genetics review

    English (2024) Au-Kline Syndrome - GeneReviews
    
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
  • Clinical genetics review

    English (2024) Au-Kline Syndrome - GeneReviews
    
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
  • Clinical genetics review

    English (2024) Au-Kline Syndrome - GeneReviews
    
• Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
  • Clinical genetics review

    English (2024) YIF1B-Related Neurodevelopmental Disorder - GeneReviews
    
• Neuroendocrine cell hyperplasia of infancy
  • Clinical practice guidelines

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

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

    English (2012) Management of neuroendocrine tumors in children, adolescents, and young adults - J Pediatr Hematol Oncol
    
• Neuroendocrine neoplasm of 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
    
• Neuroendocrine tumor of anal canal
  • Clinical practice guidelines

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
• Neuroendocrine tumor of pancreas
  • Clinical practice guidelines

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
  • Review article

    English (2012) Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances - Best Pract Res Clin Gastroenterol
    
• Neuroendocrine tumor of stomach
  • Clinical practice guidelines

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
  • Review article

    English (2014) Classification, clinicopathologic features and treatment of gastric neuroendocrine tumors - World J Gastroenterol
    
• Neuroendocrine tumor of the colon
  • Clinical practice guidelines

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
• Neuroendocrine tumor of the rectum
  • Clinical practice guidelines

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
  • Review article

    Deutsch (2022) - Onkopedia
    
• Neuroendocrine tumor of the small intestine
  • Clinical practice guidelines

    English (2024) European Neuroendocrine Tumor Society (ENETS) 2024 guidance paper for the management of well-differentiated small intestine neuroendocrine tumours - J Neuroendocrinol
    

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
• Neuroendocrine tumor with other location
  • Clinical practice guidelines

    English (2012) Management of neuroendocrine tumors in children, adolescents, and young adults - J Pediatr Hematol Oncol
    
• Neuroferritinopathy
  • Article for general public

    Deutsch (2017.pdf) - ACHSE
    
  • Clinical practice guidelines

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

    English (2025) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
    

    English (2022) Neuroferritinopathy - GeneReviews
    
• Neurofibromatosis type 1
  • Article for general public

    Français (2006.pdf) - Orphanet
    

    Deutsch (2016.pdf) - ACHSE
    

    Español (2015.pdf) - Asoc Sínd Noonan Cantabria
    

    Svenska (2022) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2019.pdf) Neurofibromatose type 1 - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Neurofibromatose 1 - PNDS
    

    English (2020) Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966 - Orphanet J Rare Dis
    

    English (2023) ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 - EClinicalMedicine
    

    English (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation - Genet Med
    
  • Review article

    English (2014) Neurofibromatosis type 1: a multidisciplinary approach to care - Lancet Neurol
    
  • Clinical genetics review

    English (2007.pdf) - Eur J Hum Genet
    

    English (2022) Neurofibromatosis 1 - GeneReviews
    
  • Disability factsheet

    Dansk (2018) - Sjaeldne Diagnoser
    
• Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
  • Emergency guidelines

    Français (2019.pdf) Neurofibromatose type 1 - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Neurofibromatose 1 - PNDS
    

    English (2023) ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 - EClinicalMedicine
    

    English (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation - Genet Med
    
  • Clinical genetics review

    English (2007.pdf) - Eur J Hum Genet
    

    English (2022) Neurofibromatosis 1 - GeneReviews
    
• Neurofibromatosis-Noonan syndrome
  • Emergency guidelines

    Français (2019.pdf) Neurofibromatose type 1 - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
    
  • Clinical genetics review

    English (2018) Neurofibromatosis 1 - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    Deutsch (2015.pdf) - Kardiologe
    
• Neurogenic arthrogryposis multiplex congenita
  • Anesthesia guidelines

    Deutsch (2019) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    

    Português (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2025) Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach - Orphanet J Rare Dis
    
• Neuroleptic malignant syndrome
  • Emergency guidelines

    Français (2017.pdf) Syndrome malin des neuroleptiques - Orphanet Urgences
    
  • Review article

    English (2024) Neuroleptic Malignant Syndrome - N Engl J Med
    
• Neurolymphomatosis
  • Review article

    English (2024) Clinical Presentation, Management, and Outcome in Neurolymphomatosis: A Systematic Review - Neurology
    
• Neurometabolic disorder due to serine deficiency
  • Clinical genetics review

    English (2023) Serine Deficiency Disorders - GeneReviews
    
• Neuromuscular disease with dilated cardiomyopathy
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Neuromyelitis optica spectrum disorder
  • Article for general public

    Svenska (2019) - Socialstyrelsen
    
  • Anesthesia guidelines

    Deutsch (2016) - Orphananesthesia
    

    English (2016) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
    

    Français (2021) Les maladies du spectre de la neuromyélite optique (NMOSD) - PNDS
    

    Deutsch (2024) - AWMF
    

    English (2014) Update on the diagnosis and treatment of neuromyelitis optica: recommendations of the Neuromyelitis Optica Study Group (NEMOS) - J Neurol
    
  • Review article

    English (2020) New therapies for neuromyelitis optica spectrum disorder - Lancet Neurol
    
• Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
  • Clinical practice guidelines

    Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
    

    Français (2021) Les maladies du spectre de la neuromyélite optique (NMOSD) - PNDS
    

    Deutsch (2024) - AWMF
    
• Neuromyelitis optica spectrum disorder with anti-MOG antibodies
  • Clinical practice guidelines

    Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
    

    Français (2021) Les maladies du spectre de la neuromyélite optique (NMOSD) - PNDS
    

    Deutsch (2024) - AWMF
    
• Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
  • Clinical practice guidelines

    Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
    

    Français (2021) Les maladies du spectre de la neuromyélite optique (NMOSD) - PNDS
    

    Deutsch (2024) - AWMF
    
• Neuronal ceroid lipofuscinosis
  • Emergency guidelines

    Français (2013.pdf) Epilepsies myocloniques progressives (EMP) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2022) Céroïde-lipofuscinoses neuronales - PNDS
    
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    

    English (2016) Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2013) - GeneReviews
    
• Neuronal tumor
  • Clinical practice guidelines

    English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
    
• Neuropathy with hearing impairment
  • Anesthesia guidelines

    English (2025) Congenital Insensitivity to Pain - Orphananesthesia
    
  • Clinical genetics review

    English (2025) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
    
• Neutral lipid storage disease with ichthyosis
  • Emergency guidelines

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

    English (2023) Chanarin-Dorfman-Syndrom - Orphananesthesia
    
  • Clinical practice guidelines

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

    English (2013.pdf) - Eur J Hum Genet
    
• Neutropenia-monocytopenia-deafness syndrome
  • Clinical practice guidelines

    Français (2024) Neutropénies chroniques - PNDS
    
• New-onset refractory status epilepticus
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• NFKB1-related immune dysregulation
  • Emergency guidelines

    Français (2020.pdf) Déficits immunitaires humoraux chez l'adulte - Orphanet Urgences
    
• Nicolaides-Baraitser syndrome
  • Clinical practice guidelines

    Français (2021) Syndromes de Coffin-Siris et de Nicolaides-Baraitser (BAFopathies) - PNDS
    
  • Clinical genetics review

    English (2025) SMARCA2-Related Nicolaides-Baraitser Syndrome - GeneReviews
    
• Niemann-Pick disease type C
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Niemann Pick de type C - PNDS
    

    Deutsch (2022) - AWMF
    

    English (2021) International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study - Orphanet J Rare Dis
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2020) Niemann-Pick Disease Type C - GeneReviews
    
• Niemann-Pick disease type C, adult neurologic onset
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Niemann Pick de type C - PNDS
    

    English (2021) International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study - Orphanet J Rare Dis
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2020) Niemann-Pick Disease Type C - GeneReviews
    
• Niemann-Pick disease type C, juvenile neurologic onset
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Niemann Pick de type C - PNDS
    

    English (2021) International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study - Orphanet J Rare Dis
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2020) Niemann-Pick Disease Type C - GeneReviews
    
• Niemann-Pick disease type C, late infantile neurologic onset
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Niemann Pick de type C - PNDS
    

    English (2021) International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study - Orphanet J Rare Dis
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2020) Niemann-Pick Disease Type C - GeneReviews
    
• Niemann-Pick disease type C, severe early infantile neurologic onset
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Niemann Pick de type C - PNDS
    

    English (2021) International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study - Orphanet J Rare Dis
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2020) Niemann-Pick Disease Type C - GeneReviews
    
• Niemann-Pick disease type C, severe perinatal form
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Niemann Pick de type C - PNDS
    

    English (2021) International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study - Orphanet J Rare Dis
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2020) Niemann-Pick Disease Type C - GeneReviews
    
• Nijmegen breakage syndrome
  • Article for general public

    Deutsch (2020.pdf) - Kindernetzwerk e.V.
    
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
  • Review article

    English (2012) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2023) Nijmegen Breakage Syndrome - GeneReviews
    
• Nijmegen breakage syndrome-like disorder
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
• NIK deficiency
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
• Nipah virus disease
  • Clinical practice guidelines

    Deutsch (2018) - AWMF
    
  • Review article

    English (2019) Nipah virus disease: A rare and intractable disease - Intractable Rare Dis Res
    
• NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
  • 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
    
  • Clinical genetics review

    English (2018) NKX6-2-Related Disorder - GeneReviews
    
• NLRC4-related familial cold autoinflammatory syndrome
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• NLRP12-associated hereditary periodic fever syndrome
  • 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
    
  • Clinical practice guidelines

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

    English (2013) - Orphanet J Rare Dis
    
  • Guidance for genetic testing

    English (2014) - Eur J Hum Genet
    
• NLRP3-associated autoinflammatory disease
  • Article for general public

    Norsk (2016) - PRINTO/PRES
    

    Français (2012.pdf) - Fondation Groupama
    

    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 (2011) - 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 (2025.pdf) Syndrome périodique associé à la cryopyrine (CAPS) - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2013) Syndromes périodiques associés à la cryopyrine (CAPS) - PNDS
    

    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
    

    English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
    
• NMDA receptor encephalitis
  • Article for general public

    Svenska (2018) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2022) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Encéphalites à anticorps anti-NMDAr - PNDS
    

    Deutsch (2024) - AWMF
    
  • Review article

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

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

    English (2025) Hemophagocytic Lymphohistiocytosis - N Engl J Med
    
• Nodal marginal zone B-cell lymphoma
  • Review article

    Deutsch (2021) - Onkopedia
    
• Nodular lymphocyte predominant Hodgkin lymphoma
  • Article for general public

    Français (2015) - INCa
    
  • Clinical practice guidelines

    Français (2023) Recommandations de la SFCE pour la prise en charge du lymphome de Hodgkin nodulaire à prédominance lymphocytaire de l’enfant et de l’adolescent - Bull Cancer
    

    Français (2012) - INCa
    

    Deutsch (2018) - AWMF
    
  • Review article

    Deutsch (2021) - Onkopedia
    

    English (2012) Hodgkin's lymphoma in adults - Lancet
    
• Nodular urticaria pigmentosa
  • Article for general public

    Svenska (2016) - Socialstyrelsen
    
  • Clinical practice guidelines

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

    Français (2024) Eosinophilie – Hyperéosinophilie - Les clés du diagnostic
    
• Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
  • Clinical practice guidelines

    Français (2021) Déficit hypophysaire congénital - PNDS
    

    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
    
• Non-acquired combined pituitary hormone deficiency
  • Clinical practice guidelines

    Français (2021) Déficit hypophysaire congénital - PNDS
    

    Deutsch (2021) - AWMF
    

    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
    
  • Review article

    Français (2008.pdf) - Orphanet
    
• Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Clinical practice guidelines

    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
    
• Non-acquired isolated growth hormone deficiency
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    
• Non-acquired panhypopituitarism
  • Clinical practice guidelines

    Français (2021) Déficit hypophysaire congénital - PNDS
    

    Deutsch (2021) - AWMF
    

    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
    
• Non-acquired pituitary hormone deficiency
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    
• Non-central nervous system-localized embryonal carcinoma
  • Article for general public

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

    Deutsch (2021) - AWMF
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
  • Article for general public

    Español (2019.pdf) - SEEP
    
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    
• Non-distal deletion 12q syndrome
  • Article for general public

    English (2010.pdf) 12q Deletions - Unique
    
• Non-familial dilated cardiomyopathy
  • Clinical practice guidelines

    English (2016) Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases - Eur Heart J
    
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
  • Guidance for genetic testing

    English (2012) - Eur J Hum Genet
    
• Non-familial hypertrophic cardiomyopathy
  • Emergency guidelines

    Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Cardiomyopathie Hypertrophique (CMH) - PNDS
    

    English (2014) 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) - Eur Heart J
    
  • Guidance for genetic testing

    English (2011) - Eur J Hum Genet
    
• Non-familial rare disease with dilated cardiomyopathy
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Non-functioning paraganglioma
  • Anesthesia guidelines

    English (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
    

    Español (2016) Recomendaciones para la anestesia de pacientes con paraganglioma y feocromocitoma - Orphananesthesia
    

    Čeština (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Phéochromocytomes et Paragangliomes - PNDS
    

    English (2024) International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents - Nat Rev Endocrinol
    

    English (2016) European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma - Eur J Endocrinol
    

    English (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline - J Clin Endocrinol Metab
    

    English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    
• Non-functioning pituitary adenoma
  • Clinical practice guidelines

    English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
    
• Non-hereditary degenerative ataxia
  • 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
    
• Non-hereditary retinoblastoma
  • Article for general public

    Français (2005.pdf) - Institut Curie
    

    Svenska (2022) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2009.pdf) - Canadian Journal of Ophthalmology.
    

    English (2009) National Retinoblastoma Strategy Canadian Guidelines for Care: Stratégie thérapeutique du rétinoblastome guide clinique canadien - Can J Ophthalmol
    
  • Review article

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

    English (2023) Retinoblastoma - GeneReviews
    
  • Disability factsheet

    Français (2016.pdf) - Orphanet
    
  • Guidance for genetic testing

    English (2010) - Eur J Hum Genet
    
• Non-HFE-related hemochromatosis
  • Clinical practice guidelines

    English (2011) Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases - Hepatology
    

    English (2022) EASL Clinical Practice Guidelines on haemochromatosis - J Hepatol
    

    English (2016) EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Eur J Hum Genet
    
• Non-histaminic angioedema
  • Emergency guidelines

    Français (2021.pdf) Angioedème bradykinique - Orphanet Urgences
    

    Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
    

    Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences
    

    English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
    

    Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences
    

    Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences
    

    Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
    
  • Diagnostic Keys

    Français (2024) Angioedème isolé - Les clés du diagnostic
    
• Non-Hodgkin lymphoma
  • Article for general public

    Français (2011) - INCa
    
  • Clinical practice guidelines

    Français (2012) - ALD
    

    Deutsch (2023) - AWMF
    
• Non-infectious anterior uveitis
  • Clinical practice guidelines

    Français (2020) Uvéites chroniques non infectieuses de l'enfant et de l'adulte - PNDS
    

    Deutsch (2023) - AWMf
    
• Non-infectious posterior uveitis
  • Clinical practice guidelines

    Français (2020) Uvéites chroniques non infectieuses de l'enfant et de l'adulte - PNDS
    
• Non-involuting congenital hemangioma
  • Article for general public

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

    Deutsch (2020) - AWMF
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Non-malignant and non-cirrhotic portal vein thrombosis
  • Clinical practice guidelines

    Français (2018) Cavernome porte - PNDS
    

    Français (2018) Thrombose porte récente non cirrhotique - PNDS
    

    English (2021) Vascular Liver Disorders, Portal Vein Thrombosis, and Procedural Bleeding in Patients With Liver Disease: 2020 Practice Guidance by the American Association for the Study of Liver Diseases - Hepatology
    

    English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
    
• Non-progressive cerebellar ataxia with intellectual disability
  • 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
    

    Svenska (2021) - 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
    
  • 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
    
• Non-recovering obstetric brachial plexus lesion
  • Article for general public

    Deutsch (2019.pdf) - Kindernetzwerk e.V.
    
• Non-rhizomelic chondrodysplasia punctata
  • Article for general public

    Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
    

    Svenska (2015) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    
• Non-saccular limited dorsal myeloschisis
  • 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 -
    
• Non-seminomatous germ cell tumor of testis
  • Article for general public

    Français (2014) - INCa
    
  • Clinical practice guidelines

    Français (2011) - ALD
    

    Deutsch (2019) - AWMF
    

    English (2022) Testicular seminoma and non-seminoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
    
  • Review article

    English (2025) Testicular cancer - Lancet
    

    English (2025) Testicular Germ Cell Tumors: A Review - JAMA
    
• Non-severe combined immunodeficiency
  • Article for general public

    Deutsch (2009.pdf) - Centrum für Chronische Immundefizienz
    
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    
• Non-specific autoimmune cerebellar ataxia with characteristic antibodies
  • 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
    
• Non-specific autoimmune cerebellar ataxia without characteristic antibodies
  • 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
    
• Non-specific early-onset epileptic encephalopathy
  • Article for general public

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

    English (2025) SCN3A-Related Neurodevelopmental Disorder - GeneReviews
    

    English (2022) - GeneReviews
    

    English (2023) SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders - GeneReviews
    

    English (2025) SYNGAP1-Related Intellectual Disability - GeneReviews
    
• Non-specific interstitial pneumonia
  • Clinical practice guidelines

    English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
    
• Non-specific syndromic intellectual disability
  • Article for general public

    Français (2020.pdf) Syndrome lié à TBR1 - Unique
    

    Deutsch (2020.pdf) TBR1 Gen bedingte Erkrankung - Unique
    

    Español (2020.pdf) Trastorno relacionado con TBR1 - Unique
    

    Русский (2020.pdf) TBR1-related disorder - Unique
    
  • Clinical genetics review

    English (2023) TET3-Related Beck-Fahrner Syndrome - GeneReviews
    

    English (2023) DLG4-Related Synaptopathy - GeneReviews
    

    English (2023) EMC10-Related Neurodevelopmental Disorder - GeneReviews
    

    English (2022) Okur-Chung Neurodevelopmental Syndrome - GeneReviews
    

    English (2022) ANKRD17-Related Neurodevelopmental Syndrome - GeneReviews
    

    English (2024) KMT2E-Related Neurodevelopmental Disorder - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Non-spherocytic hemolytic anemia due to hexokinase deficiency
  • Clinical practice guidelines

    English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
    
  • Guidance for genetic testing

    Français (2019.pdf) - ANPGM
    
• Non-syndromic agammaglobulinemia
  • Emergency guidelines

    Français (2020.pdf) Déficits immunitaires humoraux chez l'adulte - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    

    Deutsch (2019) - AWMF
    
  • Clinical genetics review

    English (2024) X-Linked Agammaglobulinemia - GeneReviews
    
• Non-syndromic anal stenosis
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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 I: Diagnostics - 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
    
• Non-syndromic anorectal malformation
  • Article for general public

    Deutsch (2020.pdf) - Soma e.V.
    
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    Deutsch (2023) - AWMF
    

    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
    
  • Review article

    English (2007) - Orphanet J Rare Dis
    
• Non-syndromic anorectal malformation without fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic bicoronal craniosynostosis
  • Clinical genetics review

    English (2020) FGFR-Related Craniosynostosis Syndromes - GeneReviews
    
• Non-syndromic bilambdoid and sagittal craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic cloacal malformation
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    

    English (2015) Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis - J Craniofac Surg
    
• Non-syndromic H-type fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic male infertility due to sperm motility disorder
  • Clinical genetics review

    English (2017) CATSPER-Related Male Infertility - GeneReviews
    
• Non-syndromic metopic craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic perineal fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic pontocerebellar hypoplasia
  • Review article

    English (2011) - Orphanet J Rare Dis
    
• Non-syndromic pouch colon
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectal atresia
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectal stenosis
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectourethral fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectourethral fistula, bulbar type
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectourethral fistula, prostatic type
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectovaginal fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic rectovesical fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-syndromic renal or urinary tract malformation
  • Clinical practice guidelines

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

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
• Non-syndromic sagittal craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic syndactyly
  • Review article

    English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
    
• Non-syndromic unicoronal craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic unifrontosphenoidal craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic unilambdoid craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic unisquamosal craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic unisutural craniosynostosis
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
• Non-syndromic urogenital tract malformation of female
  • Clinical practice guidelines

    Deutsch (2020) - AWMF
    
• Non-syndromic uterovaginal malformation
  • Clinical practice guidelines

    Deutsch (2020) - AWMF
    
• Non-syndromic vestibular fistula
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
• Non-terminal myelocystocele
  • Clinical practice guidelines

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

    English (2025.pdf) EAU – ESPU - ERN eUROGEN - ERN ITHACA - ERN ERKN et - IFSBH Guidelines on spinal dysraphism in children and adolescents -
    
• Noonan syndrome
  • Article for general public

    Français (2006.pdf) - Orphanet
    

    Deutsch (2015.pdf) - BVHK
    

    Español (2015) - Asoc Sínd Noonan Cantabria
    

    Svenska (2013) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    

    Italiano (2015) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
    

    Deutsch (2023) - AWMF
    

    English (2011.pdf) Management of Noonan Syndrome - A Clinical Guideline - Dyscerne
    

    Nederlands (2010.pdf) - Dyscerne
    
  • Review article

    English (2007) - Orphanet J Rare Dis
    

    English (2025) Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment - Prog Retin Eye Res
    
  • Clinical genetics review

    English (2025) Noonan Syndrome - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    Deutsch (2015.pdf) - Kardiologe
    
• Noonan syndrome and Noonan-related syndrome
  • Article for general public

    Español (2015.pdf) - Asoc Sínd Noonan Cantabria
    
  • Clinical practice guidelines

    Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    Deutsch (2015.pdf) - Kardiologe
    
• Noonan syndrome with multiple lentigines
  • Article for general public

    Deutsch (2015.pdf) - BVHK
    

    Español (2015.pdf) - Asoc Sínd Noonan Cantabria
    

    Svenska (2016) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
    
  • Review article

    English (2008) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) Noonan Syndrome with Multiple Lentigines - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    Deutsch (2015.pdf) - Kardiologe
    
• Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
  • Article for general public

    Español (2015.pdf) - Asoc Sínd Noonan Cantabria
    
  • Clinical practice guidelines

    Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    Deutsch (2015.pdf) - Kardiologe
    
• Noonan syndrome-like disorder with loose anagen hair
  • Article for general public

    Español (2015.pdf) - Asoc Sínd Noonan Cantabria
    
  • Clinical practice guidelines

    Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    Deutsch (2015.pdf) - Kardiologe
    
• Normosmic congenital hypogonadotropic hypogonadism
  • Clinical practice guidelines

    English (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment - Nat Rev Endocrinol
    
  • Review article

    Français (2009.pdf) - Ann Endocrinol
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Norrie disease
  • Article for general public

    Français (2014.pdf) - Orphanet
    

    English (2019.pdf) Norrie Disease - Unique
    

    Русский (2018.pdf) Norrie Disease - Unique
    
  • Clinical genetics review

    English (2023) NDP-Related Retinopathies - GeneReviews
    
  • Disability factsheet

    Français (2014.pdf) - Orphanet
    

    Español (2017.pdf) - Orphanet
    
• Northern epilepsy
  • Article for general public

    Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2022) Céroïde-lipofuscinoses neuronales - PNDS
    
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    

    English (2016) Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2013) - GeneReviews
    
• NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
  • Article for general public

    English (2014.pdf) 2p16.3 (NRXN1) deletions - Unique
    

    Español (2014.pdf) Deleción 2p16.3 (NRXN1) - Unique
    

    Nederlands (2014.pdf) 2p16.3 (NRXN1) deletions - Unique
    

    한국어 (2014.pdf) 2p16.3 (NRXN1) deletions - Unique
    

    Русский (2014.pdf) 2p16.3 (NRXN1) deletions - Unique
    
• NTHL1-related polyposis
  • Clinical genetics review

    English (2025) NTHL1 Tumor Syndrome - GeneReviews
    
  • Guidance for genetic testing

    English (2011) - Eur J Hum Genet
    
• Null pituitary adenoma
  • Clinical practice guidelines

    English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
    
  • Clinical genetics review

    English (2020) AIP-Related Familial Isolated Pituitary Adenomas - GeneReviews
    
• Null syndrome
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Review article

    English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
    
  • Clinical genetics review

    English (2025) PLP1-Related Disorders - GeneReviews