Orphanet : Diseases

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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Narcolepsy type 1

Article for general public
Français (2006.pdf) - Orphanet

Deutsch (2019.pdf) - ÄZQ

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
Deutsch (2019.pdf) - ÄZQ

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 (2023) Mitochondrial DNA-Associated Leigh Syndrome and NARP - 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

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

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

Neonatal acute respiratory distress syndrome

Clinical practice guidelines
Français (2017) Pneumopathies interstitielles diffuses de lenfant - 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

Français (2021) Adrénoleucodystrophie - PNDS

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

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 ladulte et de lenfant - PNDS

Español (2020.pdf) - Asoc Española de Pediatría

Neonatal dermatomyositis

Clinical practice guidelines
Français (2019) Fragilités osseuses secondaires de lenfant - 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 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 inflammatory skin and bowel disease

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

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

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 lurée - PNDS

Deutsch (2020) - AWMF

Clinical genetics review
English (2017) - 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) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - 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 lenfant - 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 Childrens 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 Childrens 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

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

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

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

Clinical genetics review
English (2019) 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 (2019) - 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 lenfant - 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 (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

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

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

Clinical genetics review
English (2019) 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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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

Neurogenic scapuloperoneal syndrome, Kaeser type

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Neuroleptic malignant syndrome

Emergency guidelines
Français (2017.pdf) Syndrome malin des neuroleptiques - Orphanet Urgences

Neurometabolic disorder due to serine deficiency

Clinical genetics review
English (2023) Serine Deficiency Disorders - 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 (2023) - 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 (2023) - 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 (2023) - 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 (2023) - 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 (2016) Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis - Orphanet J Rare Dis
Clinical genetics review
English (2013) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Neutral lipid storage disease with ichthyosis

Emergency guidelines
Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
Clinical practice guidelines
Français (2021) Ichthyoses héréditaires - PNDS

Clinical genetics review
English (2013.pdf) - Eur J Hum Genet

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

Nicolaides-Baraitser syndrome

Clinical practice guidelines
Français (2021) Syndromes de Coffin-Siris et de Nicolaides-Baraitser (BAFopathies) - PNDS

Clinical genetics review
English (2015) 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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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

Review article
English (2013) - Orphanet J Rare Dis

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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 (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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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

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 lenfant et de ladolescent - Bull Cancer

Français (2012) - INCa

Deutsch (2018) - AWMF

Review article
Deutsch (2021) - Onkopedia

English (2012) Hodgkin's lymphoma in adults - Lancet

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Nodular urticaria pigmentosa

Article for general public
Svenska (2016) - Socialstyrelsen

Clinical practice guidelines
Français (2022) Mastocytoses non-avancées chez ladulte - 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

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

Clinical genetics review
English (2021) Hypertrophic Cardiomyopathy Overview - GeneReviews

Guidance for genetic testing
English (2011) - Eur J Hum Genet

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 (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) Angidème 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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Non-infectious anterior uveitis

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

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

Deutsch (2023) - AWMf

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Non-infectious posterior uveitis

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

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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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-papillary transitional cell carcinoma of the bladder

Article for general public
Français (2014) - INCa

Clinical practice guidelines
Deutsch (2020) - AWMF

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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

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

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

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 (2021) SCN3A-Related Neurodevelopmental Disorder - GeneReviews

English (2022) - GeneReviews

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

English (2019) 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

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

Deutsch (2019) - AWMF

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 lâge de 6 ans - PNDS

Deutsch (2023) - AWMF

Review article
English (2007) - Orphanet J Rare Dis

Non-syndromic anorectal malformation with anal stenosis

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with H-type fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with perineal fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with pouch colon

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectal atresia

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectal stenosis

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectourethral fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectourethral fistula, bulbar type

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectourethral fistula, prostatic type

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectovaginal fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with rectovesical fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation with vestibular fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

Non-syndromic anorectal malformation without fistula

Clinical practice guidelines
Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS

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 lâge de 6 ans - PNDS

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 genetic deafness

Clinical genetics review
English (2023) Hereditary Hearing Loss and Deafness Overview - GeneReviews

English (2018) DFNA2 Nonsyndromic Hearing Loss - GeneReviews

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 pontocerebellar hypoplasia

Review article
English (2011) - Orphanet J Rare Dis

Non-syndromic renal or urinary tract malformation

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

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

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

Non-syndromic sagittal craniosynostosis

Clinical practice guidelines
Deutsch (2023) - AWMF

Non-syndromic supernumerary kidneys

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

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

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-terminal myelocystocele

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

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
Clinical genetics review
English (2022) 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

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 attenuated familial adenomatous polyposis

Clinical genetics review
English (2020) 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 (2019) PLP1 Disorders - GeneReviews

Knowledge on rare diseases and orphan drugs

Encyclopaedia

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