Orphanet : Diseases

ALPHABETICAL LIST

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Other search option(s)

Search by disease

C3 glomerulopathy
- Clinical practice guidelines
  English (2017) 'Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Clinical genetics review
  English (2018) C3 Glomerulopathy - GeneReviews
CACH syndrome
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2019) Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter - GeneReviews
  
  English (2024) AARS2-Related Disorder - GeneReviews
CADINS disease
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Caffey disease
- Clinical genetics review
  English (2019) Caffey Disease - GeneReviews
Calpain-3-related limb-girdle muscular dystrophy D4
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Calpain-3-related limb-girdle muscular dystrophy R1
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2022) Calpainopathy - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Calvarial doughnut lesions-bone fragility syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
CAMOS 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
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Campomelic dysplasia
- Article for general public
  Svenska (2023) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical genetics review
  English (2023) Campomelic Dysplasia - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Camurati-Engelmann disease
- Clinical genetics review
  English (2023) Camurati-Engelmann Disease - GeneReviews
Canavan disease
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2018) Canavan Disease - GeneReviews
Cantú syndrome
- Article for general public
  English (2017.pdf) Cantu Syndrome - Unique
  
  Русский (2022.pdf) Cantu Syndrome - Unique
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  English (2017) - Eur J Hum Genet
Capillary malformation-arteriovenous malformation
- Emergency guidelines
  Français (2018.pdf) Malformations artérioveineuses médullaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Les malformations artério-veineuses superficielles - PNDS
- Clinical genetics review
  English (2019) - GeneReviews
Carbamoyl-phosphate synthetase 1 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
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) - GeneReviews
Carcinofibroma of the corpus uteri
- Article for general public
  Français (2013) - INCa
Carcinoid syndrome
- Clinical practice guidelines
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
Carcinoma of esophagus
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2011) Guidelines for the management of oesophageal and gastric cancer - Gut
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Carcinoma of gallbladder and extrahepatic biliary tract
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Carcinosarcoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
Carcinosarcoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
Cardiac anomalies-heterotaxy syndrome
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
Cardiac diverticulum
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Cardiac-urogenital syndrome
- Clinical genetics review
  English (2022) MYRF-Related Cardiac Urogenital Syndrome - GeneReviews
Cardiac-valvular Ehlers-Danlos syndrome
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
Cardiocranial syndrome, Pfeiffer type
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Cardiofaciocutaneous syndrome
- Article for general public
  Deutsch (2015.pdf) - BVHK
  
  Español (2015.pdf) - Asoc Sínd Noonan Cantabria
  
  Svenska (2011) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
- Clinical genetics review
  English (2023) Cardiofaciocutaneous Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  Deutsch (2015.pdf) - Kardiologe
Carney complex
- Clinical practice guidelines
  Français (2024) Complexe de Carney - PNDS
  
  Français (2022) Syndrome de Cushing - PNDS
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2015) Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Carney Complex - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Carnitine palmitoyl transferase 1A deficiency
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical genetics review
  English (2016) Carnitine Palmitoyltransferase 1A Deficiency - GeneReviews
Carnitine palmitoyl transferase II deficiency, myopathic form
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2017) Carnitine Palmitoyltransferase II Deficiency - GeneReviews
Carnitine palmitoyl transferase II deficiency, neonatal form
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2019) Carnitine Palmitoyltransferase II Deficiency - GeneReviews
Carnitine palmitoyl transferase II deficiency, severe infantile form
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2017) Carnitine Palmitoyltransferase II Deficiency - GeneReviews
Carnitine palmitoyltransferase II deficiency
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2023) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
  
  Français (2023) Rhabdomyolyse aux urgences patient non connu - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) - G2M
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2019) Carnitine Palmitoyltransferase II Deficiency - GeneReviews
Carnitine-acylcarnitine translocase deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Rhabdomyolyse sévère chez un patient connu - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2023) Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) - G2M
  
  Français (2023) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
  
  Français (2023) Insuffisance hépatique néonatale - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Rhabdomyolyse aux urgences patient non connu - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Caroli disease
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2022) EASL Clinical Practice Guidelines on the management of cystic liver diseases - J Hepatol
Caroli syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2022) EASL Clinical Practice Guidelines on the management of cystic liver diseases - J Hepatol
Carpenter syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Cartilage-hair hypoplasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Clinical genetics review
  English (2023) Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - GeneReviews
Carvajal syndrome
- Emergency guidelines
  Français (2019.pdf) Cardiomyopathie ventriculaire droite arythmogène (CVDA) - Orphanet Urgences
Castleman disease
- Clinical practice guidelines
  Français (2019) Maladie de Castleman - PNDS
  
  English (2018) International, evidence-based consensus treatment guidelines for idiopathic multicentric Castleman - Blood
- Review article
  English (2018) Novel insights and therapeutic approaches in idiopathic multicentric Castleman disease - Hematology Am Soc Hematol Educ Program
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cat-eye syndrome
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
  
  English (2019.pdf) Cat Eye Syndrome CES - Unique
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Cataract-ataxia-deafness 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
Cataract-intellectual disability-anal atresia-urinary defects syndrome
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
Cataract-intellectual disability-hypogonadism syndrome
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Clinical genetics review
  English (2018) RAB18 Deficiency - GeneReviews
Catastrophic antiphospholipid syndrome
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Français (2014) - SNFMI
- Emergency guidelines
  Français (2017.pdf) Syndrome des anticorps antiphospholipides et syndrome catastrophique des antiphospholipides - Orphanet Urgences
  
  Deutsch (2009.pdf) Anti-Phospholipid-Syndrom - Orphanet Urgences
  
  Español (2009.pdf) Síndrome antifosfolipídico - Orphanet Urgences
  
  Italiano (2009.pdf) Sindrome da anticorpi antifosfolipidi - Orphanet Urgences
  
  Português (2009.pdf) Síndrome antifosfolipídica - Orphanet Urgences
- 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
  
  English (2003) Catastrophic antiphospholipid syndrome: international consensus statement on classification criteria and treatment guidelines - Lupus
- Review article
  English (2008) Clinical features, diagnosis, and management of the antiphospholipid syndrome - Semin Thromb Hemost
Catecholaminergic polymorphic ventricular tachycardia
- Emergency guidelines
  Français (2017.pdf) Tachycardie ventriculaire catécholergique (TVC) - Orphanet Urgences
  
  Deutsch (2014.pdf) Katecholaminerge polymorphe ventrikuläre Tachykardie - Orphanet Urgences
  
  Español (2010.pdf) Taquicardia ventricular catecolaminérgica - Orphanet Urgences
  
  Italiano (2010.pdf) Tachicardia ventricolare catecolaminergica - Orphanet Urgences
  
  Português (2010.pdf) Taquicardia ventricular catecolaminérgica - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Tachycardies ventriculaires catécholergiques (TVC) - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace
- Review article
  English (2022) Catecholaminergic Polymorphic Ventricular Tachycardia - Arrhythm Electrophysiol Rev
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Caudal regression syndrome
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Caudal regression-sirenomelia spectrum
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
CCDC115-CDG
- Clinical practice guidelines
  Deutsch (2015) - AWMF
CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
- Clinical genetics review
  English (2019) CDK13-Related Disorder - GeneReviews
CDKL5-deficiency disorder
- Emergency guidelines
  Français (2020.pdf) Syndrome de Rett - Orphanet Urgences
  
  Español (2023.pdf) Síndrome de Rett - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) CDKL5 Deficiency Disorder Encéphalopathie Epileptique liée à CDKL5 - PNDS
- Clinical genetics review
  English (2024) CDKL5 Deficiency Disorder - GeneReviews
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
CEDNIK syndrome
- 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
CELSR1-related late-onset primary lymphedema
- Clinical practice guidelines
  Deutsch (2017) - AWMF
Central areolar choroidal dystrophy
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Français (2021) Maculopathies génétiques - PNDS
  
  Español (2017.pdf) - Ministerio de Sanidad
Central cloudy dystrophy of François
- Review article
  English (2009) - Orphanet J Rare Dis
Central congenital hypothyroidism
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
  
  English (2018) 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism - Eur Thyroid J
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Central core disease
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2014) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Central nervous system embryonal tumor
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2011.pdf) - BNOS
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Central neurocytoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Centronuclear myopathy
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) X-Linked Myotubular Myopathy - GeneReviews
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia 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
  
  Svenska (2023) - 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
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2020) RFC1 CANVAS / Spectrum Disorder - GeneReviews
Cerebellar ataxia, Cayman type
- 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 (2023) Hereditary Ataxia Overview - GeneReviews
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss 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
  
  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
- Clinical genetics review
  English (2018) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cerebellar ataxia-hypogonadism 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
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Clinical genetics review
  English (2021) PNPLA6 Disorders - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Cerebellar liponeurocytoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Cerebral Amyloid Angiopathy
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) - Annals Neurol
Cerebral arteriovenous malformation
- Emergency guidelines
  Français (2018.pdf) Malformation artérioveineuse cérébrale - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) CADASIL - Orphanet Urgences
  
  Español (2023.pdf) CADASIL - Orphanet Urgences
  
  Italiano (2013.pdf) CADASIL - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2011) CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy) - PNDS
  
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2019) CADASIL - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2019) - GeneReviews
Cerebral sinovenous thrombosis
- Clinical practice guidelines
  Français (2021) Thrombose Veineuse Cérébrale de lenfant - PNDS
  
  Deutsch (2023) - AWMF
Cerebrofacial arteriovenous metameric syndrome
- Emergency guidelines
  Français (2018.pdf) Malformation artérioveineuse cérébrale - Orphanet Urgences
Cerebrofacial arteriovenous metameric syndrome type 2
- Emergency guidelines
  Français (2018.pdf) Malformations artérioveineuses médullaires - Orphanet Urgences
Cerebrotendinous xanthomatosis
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2022) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  English (2021) Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study - Orphanet J Rare Dis
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Cernunnos-XLF deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Cervical aortic arch
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Chaotic conus spinal cord lipoma
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Char syndrome
- Clinical genetics review
  English (2013) - GeneReviews
Charcot-Marie-Tooth disease type 1
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 1A
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Charcot-Marie-Tooth disease type 1B
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Charcot-Marie-Tooth disease type 1C
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 1D
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 1E
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 1F
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2011) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2B1
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2B2
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2015) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2B5
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2H
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2015) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2P
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2R
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2S
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 2T
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4A
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4B1
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4B2
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4B3
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4C
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) SH3TC2-Related Hereditary Motor and Sensory Neuropathy - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4D
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Charcot-Marie-Tooth disease type 4E
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Charcot-Marie-Tooth disease type 4F
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4G
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4H
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2013) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease type 4J
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2013) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2022) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
  
  Deutsch (2024) - AWMF
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2023) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
CHARGE syndrome
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
  
  Español (2021.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2021) Syndrome CHARGE - PNDS
  
  Français (2021) Syndrome CHARGE - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
- Review article
  English (2014) CHARGE syndrome: a review - J Paediatr Child Health
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2022) CHD7 Disorder - GeneReviews
- Diagnostic criteria
  English (1998) CHARGE association: an update and review for the primary pediatrician - Clin Pediatr (Phila)
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  Deutsch (2015.pdf) - Kardiologe
  
  English (2011) - Eur J Hum Genet
CHD4-related neurodevelopmental disorder
- Clinical genetics review
  English (2020) CHD4 Neurodevelopmental Disorder - GeneReviews
CHD8 overgrowth syndrome
- Clinical genetics review
  English (2022) CHD8-Related Neurodevelopmental Disorder with Overgrowth - GeneReviews
Cherubism
- 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
- Review article
  English (2012.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Cherubism - GeneReviews
Chikungunya
- Article for general public
  Français (2016) - Minist Santé et Prévention
- Clinical practice guidelines
  Français (2015) French guidelines for the management of chikungunya (acute and persistent presentations). November 2014 - Med Mal Infect
  
  English (2015) French guidelines for the management of chikungunya (acute and persistent presentations). November 2014 - Med Mal Infect
Chilblain lupus
- Clinical practice guidelines
  Deutsch (2020) - AWMF
CHILD syndrome
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Chondrodysplasies ponctuées : déficit de la biosynthèse du cholestérol et déficit en arylsulfatase E. - PNDS
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
- Clinical genetics review
  English (2018) NSDHL-Related Disorders - GeneReviews
  
  English (2013.pdf) - Eur J Hum Genet
Childhood absence epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Childhood disintegrative disorder
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Childhood occipital visual epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Review article
  English (2012) Electrical status epilepticus in sleep: clinical presentation and pathophysiology - Pediatr Neurol
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- Clinical practice guidelines
  Français (2021) Myosite à inclusions sporadique - PNDS
Childhood-onset autosomal recessive slowly progressive spinocerebellar 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
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Childhood-onset epilepsy syndrome
- Article for general public
  Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Childhood-onset hypophosphatasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Hypophosphatasie - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Hypophosphatasie - PNDS
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hypophosphatasia - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
- 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
Childhood-onset 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
Childhood-onset schizophrenia
- Clinical practice guidelines
  Français (2022) Schizophrénie à début précoce - PNDS
Childhood-onset spasticity with hyperglycinemia
- 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
Childhood-onset Steinert myotonic dystrophy
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Dystrophie Myotonique de type 1 'Maladie de Steinert' - PNDS
  
  English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2009) - ANPGM
CHIME syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Choanal atresia
- Review article
  English (2015) Current updates on choanal atresia - Front Pediatr
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
Cholangiocarcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2014) Guidelines for the diagnosis and management of intrahepatic cholangiocarcinoma - J Hepatol
  
  English (2020) Cholangiocarcinoma 2020: the next horizon in mechanisms and management - Nat Rev Gastroenterol Hepatol
  
  English (2012) Guidelines for the diagnosis and treatment of cholangiocarcinoma: an update - Gut
Cholera
- Review article
  English (2012) Cholera - Lancet
Cholesteryl ester storage disease
- Clinical genetics review
  English (2016) Lysosomal Acid Lipase Deficiency - GeneReviews
Chondrodysplasia punctata
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
  
  Svenska (2015) - Socialstyrelsen
Chondrodysplasia punctata, tibial-metacarpal type
- Article for general public
  Svenska (2015) - Socialstyrelsen
  
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
Chondrodysplasia punctata, Toriello type
- Article for general public
  Svenska (2015) - Socialstyrelsen
  
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
Chondrodysplasia-difference of sex development syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Chondroectodermal dysplasia with night blindness
- 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
Chondrosarcoma
- Clinical practice guidelines
  English (2021) Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  Deutsch (2011) - Onkopedia
Chordoid glioma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Chordoma
- Review article
  English (2015) - Orphanet J Rare Dis
Choreoacanthocytosis
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) VPS13A Disease - GeneReviews
Choriocarcinoma of the central nervous system
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2022) EANO, SNO and Euracan consensus review on the current management and future development of intracranial germ cell tumors in adolescents and young adults - Neuro Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
Choroid plexus carcinoma
- Clinical practice guidelines
  English (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes - Eur J Hum Genet
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Choroid plexus tumor
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Choroideremia
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  Deutsch (2009.pdf) - Orphanet
  
  English (2015) Recent advances and future prospects in choroideremia - Clin Ophthalmol
- Clinical genetics review
  English (2021) Choroideremia - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Christianson 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
- Clinical genetics review
  English (2018) Christianson syndrome - GeneReviews
Chromophobe renal cell carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Chromosome Y microdeletion syndrome
- Clinical genetics review
  English (2019) - GeneReviews
Chronic beryllium disease
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Review article
  English (2005.pdf) - Orphanet
Chronic cutaneous lupus erythematosus
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Chronic encephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Chronic eosinophilic leukemia
- Emergency guidelines
  Français (2018.pdf) Syndromes hyperéosinophiliques - Orphanet Urgences
- Clinical practice guidelines
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
- Review article
  Deutsch (2014) - Onkopedia
Chronic graft versus host disease
- Clinical practice guidelines
  English (2017) The EBMT-ELN working group recommendations on the prophylaxis and treatment of GvHD: a change-control analysis - Bone Marrow Transplant
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Chronic granulomatous disease
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Türkçe (2007.pdf) - IPOPI
  
  Svenska (2022) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Review article
  English (2013) Chronic granulomatous disease - Hematol Oncol Clin North Am
- Clinical genetics review
  English (2022) Chronic Granulomatous Disease - GeneReviews
Chronic hiccup
- Review article
  English (2012) Hiccup: mystery, nature and treatment - J Neurogastroenterol Motil
Chronic inflammatory demyelinating polyneuropathy
- Article for general public
  Deutsch (2014.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2021) Polyradiculoneuropathie Inflammatoire Démyélinisante Chronique (PIDC) - PNDS
  
  Deutsch (2018) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2010) European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society - first revision - Eur J Neurol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Chronic intestinal pseudoobstruction syndrome
- Emergency guidelines
  Français (2019.pdf) Pseudo-obstruction intestinale chronique (POIC) - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Pseudo Obstructions Intestinales Chroniques (POIC) chez lenfant - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
Chronic mast cell leukemia
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Chronic mucocutaneous candidiasis
- Article for general public
  Svenska (2017) - Socialstyrelsen
- 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
Chronic myeloid leukemia
- Clinical practice guidelines
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2024) Chronic Myeloid Leukemia, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology - J Natl Compr Canc Netw
  
  English (2016) European LeukemiaNet recommendations for the management and avoidance of adverse events of treatment in chronic myeloid leukaemia - Leukemia
  
  English (2013) European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013 - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
- Review article
  Deutsch (2014) - Onkopedia
  
  English (2017) - PDQ Cancer Inf Sum
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Chronic myelomonocytic leukemia
- Clinical practice guidelines
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
Chronic myeloproliferative disease, unclassifiable
- Clinical practice guidelines
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
- Review article
  Deutsch (2014) - Onkopedia
Chronic neurovisceral acid sphingomyelinase deficiency
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2024) ASMD : Maladie de Niemann-Pick de types A, B et A/B - PNDS
- Clinical genetics review
  English (2023) Acid Sphingomyelinase Deficiency - GeneReviews
Chronic neutrophilic leukemia
- Clinical practice guidelines
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
- Review article
  Deutsch (2014) - Onkopedia
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- 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
  Deutsch (2023) - AWMF
- Review article
  English (2012) Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis - Curr Rheumatol Rep
Chronic pneumonitis 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
Chronic primary adrenal insufficiency
- Emergency guidelines
  Français (2019.pdf) Insuffisance surrénale aiguë (ISA) - Orphanet Urgences
  
  Italiano (2015.pdf) Insufficienza surrenalica - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2020) - AWMF
  
  English (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Chronic respiratory distress with surfactant metabolism deficiency
- Clinical practice guidelines
  Français (2021) Maladies héréditaires du métabolisme du surfactant - PNDS
  
  Français (2021) Maladies héréditaires du métabolisme du surfactant - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Chronic thromboembolic pulmonary hypertension
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2020) Hypertension artérielle pulmonaire - PNDS
  
  English (2021) ERS statement on chronic thromboembolic pulmonary hypertension - Eur Respir J
  
  English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
  
  English (2011) Chronic thromboembolic pulmonary hypertension (CTEPH): Updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
Chronic visceral acid sphingomyelinase deficiency
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2024) ASMD : Maladie de Niemann-Pick de types A, B et A/B - PNDS
- Clinical genetics review
  English (2023) Acid Sphingomyelinase Deficiency - GeneReviews
CHST3-related skeletal dysplasia
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical genetics review
  English (2019) - GeneReviews
Chylomicron retention disease
- Clinical practice guidelines
  Français (2021) Hypocholestérolémies génétiques intestinales - PNDS
  
  English (2010) Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Chédiak-Higashi syndrome
- Article for general public
  Español (2018) - ALBA
  
  Svenska (2014) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Review article
  Deutsch (2020) - Onkopedia
  
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Chediak-Higashi Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
CIDEC-related familial partial lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
CINCA syndrome
- Article for general public
  Svenska (2011) - Socialstyrelsen
- 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
- Review article
  English (2016) Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Clinical genetics review
  English (2021) - GeneReviews
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
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
Citrullinemia
- 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
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
Citrullinemia type I
- 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
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Citrullinemia type II
- 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 (2018) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
CK syndrome
- Clinical genetics review
  English (2018) NSDHL-Related Disorders - GeneReviews
CLAPO syndrome
- Clinical genetics review
  English (2023) PIK3CA-Related Segmental Overgrowth - GeneReviews
Class I glucose-6-phosphate dehydrogenase deficiency
- Anesthesia guidelines
  Deutsch (2018) - Orphananesthesia
  
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Déficit en G6PD (Glucose-6-Phosphate Deshydrogenase) ou FAVISME - PNDS
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2014) Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype - Clin Pharmacol Ther
Classic bladder exstrophy
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  Deutsch (2024) - AWMF
- Review article
  English (2009) - Orphanet J Rare Dis
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Español (2019.pdf) - SEEP
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2011) ALD hors liste - Hyperplasie congénitale des surrénales - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
  
  English (2018) Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  Español (2017) - Anales de Pediatria
- Clinical genetics review
  English (2016) - GeneReviews
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2011) ALD hors liste - Hyperplasie congénitale des surrénales - PNDS
  
  Deutsch (2021) - AWMF
  
  Español (2017) - Anales de Pediatria
- Clinical genetics review
  English (2016) - GeneReviews
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2011) ALD hors liste - Hyperplasie congénitale des surrénales - PNDS
  
  Deutsch (2021) - AWMF
  
  Español (2017) - Anales de Pediatria
- Clinical genetics review
  English (2016) - GeneReviews
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
- Article for general public
  Español (2019.pdf) - SEEP
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Classic galactosemia
- Article for general public
  Français (2019) - Tous à l'école
  
  Svenska (2021) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Insuffisance hépatique néonatale - G2M
  
  Français (2023) Galactosémie congénitale classique - G2M
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Classic glucose transporter type 1 deficiency syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Déficit en Glut-1 - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2024) Déficit en transporteur de glucose GLUT1 - PNDS
- Clinical genetics review
  English (2018) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic hairy cell leukemia
- Article for general public
  Deutsch (2010.pdf) - ACHSE
- Clinical practice guidelines
  English (2021) The revised guidelines for the diagnosis and management of hairy cell leukaemia and the hairy cell leukaemia variant - Br J Haematol
- Review article
  English (2022) - Onkopedia
Classic Hodgkin lymphoma
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2013) - HAS/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
Classic Hodgkin lymphoma, lymphocyte-depleted type
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2013) - HAS/INCa
  
  Deutsch (2018) - AWMF
- Review article
  Deutsch (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic Hodgkin lymphoma, lymphocyte-rich type
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2013) - HAS/INCa
  
  Deutsch (2018) - AWMF
- Review article
  Deutsch (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic Hodgkin lymphoma, mixed cellularity type
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2013) - HAS/INCa
  
  Deutsch (2018) - AWMF
- Review article
  Deutsch (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic Hodgkin lymphoma, nodular sclerosis type
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2013) - HAS/INCa
  
  Deutsch (2018) - AWMF
- Review article
  Deutsch (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic maple syrup urine disease
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Leucinose - PNDS
  
  English (2014) Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach - Mol Genet Metab
- Clinical genetics review
  English (2020) Maple Syrup Urine Disease - GeneReviews
Classic medulloblastoma
- Clinical practice guidelines
  English (2019) EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma - Lancet Oncol
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Classic multiminicore myopathy
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Anesthesia guidelines
  English (2012) - Orphananesthesia
  
  Español (2012) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Classic mycosis fungoides
- Review article
  English (2017) - PDQ Cancer Inf Sum
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic neuroendocrine tumor 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
Classic organic aciduria
- Clinical genetics review
  English (2012) - GeneReviews
Classic pantothenate kinase-associated neurodegeneration
- Article for general public
  Deutsch (2017.pdf) - ACHSE
  
  Svenska (2012) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- 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
  
  English (2017) Consensus clinical management guideline for pantothenate kinase associated neurodegeneration (PKAN) - Mol Genet Metab
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
  
  English (2017) Pantothenate Kinase-Associated Neurodegeneration - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Classic phenylketonuria
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Phénylcétonurie - Orphanet Urgences
  
  Español (2019.pdf) Fenilcetonuria - Orphanet Urgences
- Clinical practice guidelines
  Français (2018) Phénylcétonurie - PNDS
  
  English (2021) Italian national consensus statement on management and pharmacological treatment of phenylketonuria - Orphanet J Rare Dis
  
  English (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Phenylalanine Hydroxylase Deficiency - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Classic progressive supranuclear palsy syndrome
- Clinical practice guidelines
  Français (2022) Paralysie Supranucléaire Progressive et Syndrome Corticobasal - PNDS
Classic pyoderma gangrenosum
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Classic stiff person syndrome
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2017) - AWMF
Classical dermatomyositis
- Clinical practice guidelines
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
Classical Ehlers-Danlos syndrome
- Article for general public
  Svenska (2023) Ehlers-Danlos syndrom, klassisk form (cEDS) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Clinical genetics review
  English (2018) - GeneReviews
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Classical-like Ehlers-Danlos syndrome type 1
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Clinical genetics review
  English (2022) TNXB-Related Classical-Like Ehlers-Danlos Syndrome - GeneReviews
Classical-like Ehlers-Danlos syndrome type 2
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- 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
CLCN4-related X-linked intellectual disability syndrome
- Clinical genetics review
  English (2021) - GeneReviews
Clear cell adenocarcinoma of the ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
Clear cell papillary renal cell carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Clear cell renal carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Cleft hard palate
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cleft lip and alveolus
- Clinical practice guidelines
  Français (2021) Fentes labiales et/ou palatines - PNDS
  
  English (2019.pdf) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - ERN Cranio
  
  English (2022) Clinical Practice Guidelines for the Management of Patients With Cleft Lip and Palate: A Systematic Quality Appraisal Using the Appraisal of Guidelines for Research and Evaluation II Instrument - J Craniofac Surg
  
  Nederlands (2019) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - Federatie Medisch Specialisten
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- Clinical genetics review
  English (2023) HYAL2 Deficiency - GeneReviews
Cleft lip with or without cleft palate
- Clinical practice guidelines
  Français (2021) Fentes labiales et/ou palatines - PNDS
  
  English (2019.pdf) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - ERN Cranio
  
  English (2022) Clinical Practice Guidelines for the Management of Patients With Cleft Lip and Palate: A Systematic Quality Appraisal Using the Appraisal of Guidelines for Research and Evaluation II Instrument - J Craniofac Surg
  
  Nederlands (2019) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - Federatie Medisch Specialisten
- Clinical genetics review
  English (2021) TP63-Related Disorders - GeneReviews
Cleft lip/palate
- Clinical practice guidelines
  English (2019.pdf) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - ERN Cranio
  
  English (2022) Clinical Practice Guidelines for the Management of Patients With Cleft Lip and Palate: A Systematic Quality Appraisal Using the Appraisal of Guidelines for Research and Evaluation II Instrument - J Craniofac Surg
  
  Nederlands (2019) - Federatie Medisch Specialisten
- Review article
  English (2012) A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? - J Med Genet
Cleft mitral valve
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Cleft palate
- Review article
  English (2012) A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? - J Med Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Article for general public
  Français (2021.pdf) 15q14 deletions - Unique
  
  English (2022.pdf) 15q14 deletions - Unique
  
  Русский (2020.pdf) 15q14 deletions - Unique
Cleft velum
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cleidocranial dysplasia
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Review article
  English (2013) Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience - Oral Surg Med Pathol Radio
- Clinical genetics review
  English (2023) Cleidocranial Dysplasia Spectrum Disorder - GeneReviews
Climatic droplet keratopathy
- Review article
  English (2009) - Orphanet J Rare Dis
CLN1 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN10 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN11 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN12 disease
- 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
CLN13 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN2 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN3 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN4 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN5 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN6 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN7 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
CLN8 disease
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Cloacal exstrophy
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  Deutsch (2024) - AWMF
- Review article
  English (2009) - Orphanet J Rare Dis
Closed spinal dysraphism
- 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
CLOVES syndrome
- Clinical practice guidelines
  Français (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
  
  Français (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
  
  Français (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
- Review article
  Español (2010.pdf) - ECEMC
- Clinical genetics review
  English (2023) PIK3CA-Related Overgrowth Spectrum - GeneReviews
COASY protein-associated neurodegeneration
- 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
Coats disease
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
- Clinical practice guidelines
  Français (2025) Prise en charge de la Maladie de Coats - PNDS
- Review article
  English (2012) - Ophtalmologica
- Clinical genetics review
  English (2023) NDP-Related Retinopathies - GeneReviews
Coccidioidomycosis
- Clinical practice guidelines
  English (2016) 2016 Infectious Diseases Society of America (IDSA) Clinical Practice Guideline for the Treatment of Coccidioidomycosis - Clin Infect Dis
Cockayne syndrome
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Svenska (2016) - Socialstyrelsen
- Clinical genetics review
  English (2019) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Cockayne syndrome type 1
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Svenska (2016) - Socialstyrelsen
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Cockayne syndrome type 2
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Svenska (2016) - Socialstyrelsen
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Cockayne syndrome type 3
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Svenska (2016) - Socialstyrelsen
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Coenzyme Q10 deficiency
- 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) Primary Coenzyme Q10 Deficiency Overview - GeneReviews
Coffin-Lowry syndrome
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2025) Syndrome de Coffin-Lowry - PNDS
- Clinical genetics review
  English (2010.pdf) - Eur J Hum Genet
  
  English (2023) RPS6KA3-Related Intellectual Disability - GeneReviews
Coffin-Siris syndrome
- Article for general public
  Deutsch (2018.pdf) SOX11 syndrome - Unique
  
  English (2021.pdf) SOX11 syndrome - Unique
  
  English (2014.pdf) ARID1B Syndrome - Unique
  
  ქართული (2014.pdf) ARID1B Syndrome - Unique
  
  Русский (2018.pdf) SOX11 syndrome - Unique
  
  Русский (2014.pdf) ARID1B Syndrome - Unique
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndromes de Coffin-Siris et de Nicolaides-Baraitser (BAFopathies) - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2021.pdf) Coffin-Siris and Nicolaides-Baraitser syndromes (BAFopathies) - PNDS
- Clinical genetics review
  English (2018) - GeneReviews
COFS syndrome
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Svenska (2016) - Socialstyrelsen
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
COG1-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
COG2-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
COG4-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
COG5-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
COG6-CGD
- Clinical genetics review
  English (2017) - GeneReviews
COG7-CDG
- Clinical genetics review
  English (2017) - GeneReviews
COG8-CDG
- Clinical genetics review
  English (2017) - GeneReviews
Cogan syndrome
- Clinical practice guidelines
  Français (2024) Syndrome de Cogan - PNDS
- Review article
  English (2012) Cogan's syndrome: an autoimmune inner ear disease - Autoimmun Rev
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Cohen syndrome
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2017) Syndrome de Cohen - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2016) - GeneReviews
COL4A1 or COL4A2-related cerebral small vessel disease
- Clinical genetics review
  English (2016) COL4A1-Related Disorders - GeneReviews
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
- Clinical genetics review
  English (2016) - GeneReviews
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
- Clinical genetics review
  English (2016) - GeneReviews
COL4A1/2-related familial vascular leukoencephalopathy
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
Cold agglutinin disease
- Article for general public
  Français (2009.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS
  
  Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS
- Review article
  English (2021) How I treat cold agglutinin disease - Blood
Cold-induced sweating syndrome
- Clinical genetics review
  English (2016) - GeneReviews
Cold-induced sweating syndrome-hyperthermia spectrum
- Clinical genetics review
  English (2016) - GeneReviews
Cole-Carpenter syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Collagen VI-related congenital muscular dystrophy
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
Collagen-related glomerular basement membrane disease
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
Collecting duct carcinoma
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Coloboma of choroid and retina
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of eye lens
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of eyelid
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of inferior eyelid
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of iris
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of macula
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of macula-brachydactyly type B syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of optic disc
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma of superior eyelid
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Colobomatous macrophthalmia-microcornea syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Colobomatous microphthalmia
- 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
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
  
  Français (2021) Générique obésités de causes rares - PNDS
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Color-vision disease
- Article for general public
  Deutsch (2013.pdf) - ÄZQ
Colorado tick fever
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Combined deficiency of factor V and factor VIII
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2021) Déficits rares en protéines de la coagulation - PNDS
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Combined deficiency of factor VII and factor X
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Combined dystonia
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Clinical genetics review
  English (2017) - GeneReviews
Combined immunodeficiency due to CARD11 deficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
Combined immunodeficiency due to CARMIL2 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to CD27 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  Deutsch (2020) - Onkopedia
Combined immunodeficiency due to CD3gamma deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to CD70 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to CRAC channel dysfunction
- 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
Combined immunodeficiency due to DOCK2 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to DOCK8 deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
Combined immunodeficiency due to FCHO1 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to GINS1 deficiency
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to IKK2 deficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
Combined immunodeficiency due to IL21R deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to ITK deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to LRBA deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to MALT1 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to Moesin deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to ORAI1 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to OX40 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to partial RAG1 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to RELA haploinsufficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to STIM1 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to STK4 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to TFRC deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency due to ZAP70 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
Combined immunodeficiency with facio-oculo-skeletal anomalies
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency with granulomatosis
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Combined immunodeficiency-multiple intestinal atresia
- 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
- Clinical genetics review
  English (2022) PI4KA-Related Disorder - GeneReviews
Combined malonic and methylmalonic acidemia
- Article for general public
  Svenska (2021) - Socialstyrelsen
Combined oxidative phosphorylation defect type 14
- Clinical genetics review
  English (2019) FARS2 Deficiency - GeneReviews
Combined oxidative phosphorylation defect type 17
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Combined oxidative phosphorylation defect type 23
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Combined oxidative phosphorylation defect type 8
- Clinical genetics review
  English (2024) AARS2-Related Disorder - GeneReviews
Combined pituitary hormone deficiencies, genetic forms
- 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
  
  English (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment - Nat Rev Endocrinol
- Clinical genetics review
  English (2022) PROP1-Related Combined Pituitary Hormone Deficiency - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Combined pulmonary fibrosis-emphysema syndrome
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Combined T and B cell immunodeficiency
- 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
Common arterial trunk
- Article for general public
  Deutsch (2016) - BVHK
- Clinical practice guidelines
  Français (2008) Cardiopathies congénitales complexes : Truncus arteriosus - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2020) - AWMF
Common cystic lymphatic malformation
- Clinical practice guidelines
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
- 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
Complement component 3 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Complete androgen insensitivity syndrome
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Review article
  English (2012) Androgen insensitivity syndrome - Lancet
- Clinical genetics review
  English (2017) Androgen Insensitivity Syndrome - GeneReviews
Complete atrioventricular septal defect
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
- Review article
  English (2006) - Orphanet J Rare Dis
Complete atrioventricular septal defect with ventricular hypoplasia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Complete atrioventricular septal defect without ventricular hypoplasia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Complete atrioventricular septal defect-tetralogy of Fallot
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Complete hydatidiform mole
- Clinical practice guidelines
  Français (2010) - INCa
  
  English (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
Complex hereditary spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Français (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
  
  Dansk (2018) - Sjaeldne Diagnoser
Complex lethal osteochondrodysplasia
- 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
Complex regional pain syndrome
- Clinical practice guidelines
  Deutsch (2018) - AWMF
  
  English (2012) Complex regional pain syndrome in adults - Royal College of Physicians
  
  Español (2020.pdf) - Asoc Española de Pediatría
Complex regional pain syndrome type 1
- 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
  Deutsch (2018) - AWMF
  
  English (2012) Complex regional pain syndrome in adults - Royal College of Physicians
  
  Español (2020.pdf) - Asoc Española de Pediatría
Complex regional pain syndrome type 2
- Clinical practice guidelines
  Deutsch (2018) - AWMF
  
  English (2012) Complex regional pain syndrome in adults - Royal College of Physicians
  
  Español (2020.pdf) - Asoc Española de Pediatría
Complications after hematopoietic stem cell transplantation
- Emergency guidelines
  Français (2025.pdf) Personnes allogreffées de cellules souches hématopoïétiques - Orphanet Urgences
Composite hemangioendothelioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Cone rod dystrophy
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  Deutsch (2008.pdf) - Orphanet
  
  English (2007) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2015) - Eur J Hum Genet
Congenital adrenal hyperplasia
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
- Emergency guidelines
  Français (2019.pdf) Insuffisance surrénale aiguë (ISA) - Orphanet Urgences
  
  Italiano (2015.pdf) Insufficienza surrenalica - Orphanet Urgences
- Clinical practice guidelines
  Français (2011) ALD hors liste - Hyperplasie congénitale des surrénales - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
- Clinical genetics review
  English (2017) Cytochrome P450 Oxidoreductase Deficiency - GeneReviews
Congenital alpha2-antiplasmin deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Congenital alveolar capillary dysplasia
- 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
Congenital amegakaryocytic thrombocytopenia
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Congenital anomaly of hepatic vein
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
  
  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
Congenital anomaly of superior vena cava
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital anomaly of the coronary sinus
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital anomaly of the great arteries
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital anomaly of the great veins
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital anomaly of the inferior vena cava
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital anomaly of the tricuspid valve chordae
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital aortic valve atresia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital aortic valve dysplasia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital aortic valve stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2020) - AWMF
Congenital aortopulmonary window
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital autosomal recessive small-platelet thrombocytopenia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Congenital axonal neuropathy with encephalopathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Congenital bilateral absence of vas deferens
- Clinical practice guidelines
  English (2022) ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria - J Cyst Fibros
- Clinical genetics review
  English (2023) Cystic Fibrosis - GeneReviews
Congenital bilateral megacalycosis
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Congenital bile acid synthesis defect
- Clinical practice guidelines
  Français (2019) Déficits de synthèse des acides biliaires primaires - PNDS
Congenital bile acid synthesis defect type 1
- Clinical practice guidelines
  Français (2019) Déficits de synthèse des acides biliaires primaires - PNDS
Congenital bile acid synthesis defect type 2
- Clinical practice guidelines
  Français (2019) Déficits de synthèse des acides biliaires primaires - PNDS
Congenital bile acid synthesis defect type 3
- Clinical practice guidelines
  Français (2019) Déficits de synthèse des acides biliaires primaires - PNDS
Congenital bile acid synthesis defect type 4
- Clinical practice guidelines
  Français (2019) Déficits de synthèse des acides biliaires primaires - PNDS
Congenital cataract-hearing loss-severe developmental delay syndrome
- Clinical practice guidelines
  Français (2024) Maladie de Menkes et autres maladies du métabolisme du cuivre, hors maladie de Wilson - PNDS
- Clinical genetics review
  English (2019) Huppke-Brendel Syndrome - GeneReviews
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- 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
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Congenital central hypoventilation syndrome
- Article for general public
  Français (2012.pdf) - European CHS Network
  
  Polski (2012) - European CHS Network
  
  Deutsch (2012.pdf) - European CHS Network
  
  English (2012.pdf) - European CHS Network
  
  Español (2012) - European CHS Network
  
  Svenska (2019) - Socialstyrelsen
  
  Slovenščina (2012) - European CHS Network
  
  Русский (2012) - European CHS Network
  
  Hrvatski (2012) - European CHS Network
  
  中文 (2012.pdf) - European CHS Network
  
  Italiano (2012.pdf) - European CHS Network
  
  العربية (2012) - European CHS Network
  
  Português (2012.pdf) - European CHS Network
  
  日本語 (2012.pdf) - European CHS Network
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2018) Syndrome d'Ondine - PNDS
  
  English (2020) Guidelines for diagnosis and management of congenital central hypoventilation syndrome - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Congenital cerebellar ataxia due to RNU12 mutation
- 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
Congenital chylothorax
- 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
Congenital complete agenesis of pericardium
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital contractural arachnodactyly
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
  
  Français (2019.pdf) - Fondation Groupama
- Anesthesia guidelines
  Deutsch (2018) - Orphananesthesia
  
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Congenital Contractural Arachnodactyly - GeneReviews
Congenital coronary artery aneurysm
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital diaphragmatic hernia
- Emergency guidelines
  Français (2020.pdf) Hernie de coupole diaphragmatique - Orphanet Urgences
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) Recomendaciones anestésicas para pacientes con Hernia diafragmática congénita - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Hernie de Coupole Diaphragmatique - PNDS
  
  Deutsch (2016) - AWMF
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
Congenital disorder of glycosylation
- Clinical genetics review
  English (2017) Congenital Disorders of N-linked Glycosylation Pathway Overview - GeneReviews
Congenital disorder of glycosylation with cardiac malformation as a major feature
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
Congenital dyserythropoietic anemia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2016) Diagnosis and management of congenital dyserythropoietic anemias - Expert Rev Hematol
- Review article
  English (2013) Congenital dyserythropoietic anemias: molecular insights and diagnostic approach - Blood
Congenital dyserythropoietic anemia type I
- Review article
  English (2012) Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach - Haematologica
- Clinical genetics review
  English (2021) Congenital Dyserythropoietic Anemia Type I - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Congenital dyserythropoietic anemia type II
- Review article
  English (2012) Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Congenital dyserythropoietic anemia type III
- Review article
  English (2013) Congenital dyserythropoietic anemias: molecular insights and diagnostic approach - Blood
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Congenital dyserythropoietic anemia type IV
- Review article
  English (2013) - Blood
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Congenital enterovirus infection
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Congenital Epstein-Barr virus infection
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Congenital erythropoietic porphyria
- Emergency guidelines
  Français (2016.pdf) Porphyries cutanées tardives - Orphanet Urgences
  
  Polski (2016.pdf) Porfirie skorne - Orphanet Urgences
  
  English (2007.pdf) Cutaneous porphyrias - Orphanet Urgences
  
  Español (2007.pdf) Porfirias cutáneas - Orphanet Urgences
  
  Italiano (2007.pdf) Porfirie cutanee - Orphanet Urgences
  
  Português (2007.pdf) Porfiria cutâneas - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Clinical genetics review
  English (2021) Congenital Erythropoietic Porphyria - GeneReviews
Congenital factor II deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Clinical genetics review
  English (2021) Prothrombin Thrombophilia - GeneReviews
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital factor V deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital factor VII deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Review article
  English (2009) Factor VII Deficiency - Semin Thromb Hemost
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital factor X deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Review article
  English (2009) Factor X deficiency - Semin Thromb Hemost
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital factor XI deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital factor XIII deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital fiber-type disproportion myopathy
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Svenska (2019) - Socialstyrelsen
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical genetics review
  English (2013) - GeneReviews
Congenital fibrinogen deficiency
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Congenital fibrosis of extraocular muscles
- Clinical genetics review
  English (2021) Congenital Fibrosis of the Extraocular Muscles Overview - GeneReviews
Congenital functional phagocyte defect
- 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
Congenital generalized hypercontractile muscle stiffness syndrome
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Congenital generalized lipodystrophy
- Clinical practice guidelines
  Français (2022) Lipodystrophies généralisées congénitales - PNDS
- Clinical genetics review
  English (2018) BSCL2-Related Neurologic Disorders/Seipinopathy - GeneReviews
  
  English (2016) - GeneReviews
- Guidance for genetic testing
  English (2016) - Eur J Hum Genet
Congenital Gerbode defect
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital glaucoma
- Article for general public
  Deutsch (2016.pdf) - ACHSE
  
  Svenska (2015) - Socialstyrelsen
- 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
- Clinical genetics review
  English (2017) Primary Congenital Glaucoma - GeneReviews
- Guidance for genetic testing
  English (2018.pdf) - Eur J Hum Genet
Congenital glucokinase-related hyperinsulinism
- Review article
  English (2011) - Orphanet J Rare Dis
Congenital heart block
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Congenital hemangioma
- Clinical practice guidelines
  Deutsch (2020) - AWMF
- Review article
  English (2017) - PDQ Cancer Inf Sum
Congenital hereditary endothelial dystrophy type II
- Review article
  English (2009) - Orphanet J Rare Dis
Congenital herpes simplex virus infection
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Congenital high-molecular-weight kininogen deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Congenital hydrocephalus
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Congenital hyperinsulinism due to HNF4A deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Congenital hypogonadotropic hypogonadism
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  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
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital hypothyroidism
- Article for general public
  Français (2007.pdf) - Orphanet
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
- Review article
  Français (2006.pdf) - Ann Endocrinol
  
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital hypothyroidism due to developmental anomaly
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Review article
  English (2010) - Orphanet J Rare Dis
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Review article
  English (2010) - Orphanet J Rare Dis
Congenital ichthyosiform erythroderma
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
  
  English (2023) Autosomal Recessive Congenital Ichthyosis - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
Congenital ichthyosis-microcephalus-tetraplegia syndrome
- 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
Congenital insensitivity to pain with severe intellectual disability
- Clinical genetics review
  English (2020) Congenital Insensitivity to Pain Overview - GeneReviews
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
- Clinical genetics review
  English (2018) - GeneReviews
Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
- Clinical genetics review
  English (2018) - GeneReviews
Congenital intrauterine infection-like syndrome
- Disability factsheet
  Français (2018.pdf) - Orphanet
Congenital isolated ACTH deficiency
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Congenital isolated hyperinsulinism
- Emergency guidelines
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2022) Hyperinsulinisme - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  English (2022.pdf) Hypoglycaemia in A&E (no diagnosis known) - G2M
  
  English (2022.pdf) Hyperinsulinism - G2M
  
  English (2022.pdf) Recurrent undiagnosed hypoglycaemia - G2M
- Clinical practice guidelines
  Français (2020) Hyperinsulinisme congénital - PNDS
  
  Français (2020) Hyperinsulinisme congénital - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  English (2011) - Orphanet J Rare Dis
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- 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 (2020) Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews
Congenital left ventricular aneurysm
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital lipoid adrenal hyperplasia due to STAR deficency
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Español (2019.pdf) - SEEP
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital lobar emphysema
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Congenital long QT syndrome
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Emergency guidelines
  Français (2015.pdf) Syndrome du QT long - Orphanet Urgences
  
  Deutsch (2014.pdf) Familiäres Long QT-Syndrom - Orphanet Urgences
  
  Español (2008.pdf) Síndrome de QT largo familiar - Orphanet Urgences
  
  Italiano (2008.pdf) Sindrome familiare del QT lungo - Orphanet Urgences
  
  Italiano (2015.pdf) Sindrome del QT lungo - Orphanet Urgences
  
  Português (2008.pdf) Síndrome do QT longo familiar - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndrome du QT Long - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace
- Review article
  English (2021) 1970-2020: 50 years of research on the long QT syndrome-from almost zero knowledge to precision medicine - Eur Heart J
- Clinical genetics review
  English (2018) Long QT Syndrome - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2016.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Congenital megacalycosis
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
- Clinical practice guidelines
  Français (2022) Glome?rulone?phrite Extra-Membraneuse - PNDS
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
- Clinical genetics review
  English (2018) - GeneReviews
Congenital mitral malformation
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital mitral stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital mitral valve insufficiency and/or stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital multicore myopathy with external ophthalmoplegia
- Anesthesia guidelines
  English (2012) - Orphananesthesia
  
  Español (2012) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Svenska (2016) - Socialstyrelsen
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
  
  English (2010) Consensus statement on standard of care for congenital muscular dystrophies - J Child Neurol
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy due to dystroglycanopathy
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy due to LMNA mutation
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Svenska (2016) - Socialstyrelsen
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  Français (2022) Laminopathies avec présentation cardiaque - PNDS
  
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy type 1B
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy with cerebellar involvement
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy with hyperlaxity
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
Congenital muscular dystrophy with integrin alpha-7 deficiency
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy with intellectual disability
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Svenska (2016) - Socialstyrelsen
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
Congenital muscular dystrophy without intellectual disability
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Congenital muscular dystrophy, Fukuyama type
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Svenska (2016) - Socialstyrelsen
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2019) Fukuyama Congenital Muscular Dystrophy - GeneReviews
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
Congenital myasthenic syndrome
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2021) Syndromes myasthéniques congénitaux - PNDS
  
  Deutsch (2022) - AWMF
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Congenital Myasthenic Syndromes Overview - GeneReviews
Congenital myasthenic syndromes with glycosylation defect
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Congenital Myasthenic Syndromes Overview - GeneReviews
  
  English (2017) Congenital Disorders of N-linked Glycosylation Pathway Overview - GeneReviews
Congenital myopathy, Paradas type
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2021) Dysferlinopathy - GeneReviews
Congenital myotonia
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Congenital nephrotic syndrome, Finnish type
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis
  
  English (2020) Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group - Eur J Hum Genet
  
  English (2021) Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group - Nat Rev Nephrol
- Review article
  Español (2014) Síndrome nefrótico en el primer año de vida - An Pediatr Contin
Congenital neutropenia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - 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
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Congenital or early infantile CACH syndrome
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Congenital panfollicular nevus
- Clinical practice guidelines
  Français (2021) Naevus congénital - PNDS
Congenital partial agenesis of pericardium
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital partial pulmonary venous return anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital patent ductus arteriosus aneurysm
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital pericardium anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital plasminogen activator inhibitor type 1 deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
- Clinical genetics review
  English (2023) Complete Plasminogen Activator Inhibitor 1 Deficiency - GeneReviews
Congenital portosystemic shunt
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2022) Fistules porto-systémiques congénitales - PNDS
  
  English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
  
  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
Congenital prekallikrein deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Congenital primary aphakia
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Guidance for genetic testing
  English (2018.pdf) - Eur J Hum Genet
Congenital primary lymphedema of Gordon
- Clinical practice guidelines
  Deutsch (2017) - AWMF
Congenital primary lymphedema without systemic or visceral involvement
- Clinical practice guidelines
  Deutsch (2017) - AWMF
Congenital primary megaureter
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) - J Pediatr Urol
  
  English (2014) British Association of Paediatric Urologists consensus statement on the management of the primary obstructive megaureter - J Pediatr Urol
Congenital primary megaureter, nonrefluxing and unobstructed form
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) - J Pediatr Urol
  
  English (2014) British Association of Paediatric Urologists consensus statement on the management of the primary obstructive megaureter - J Pediatr Urol
Congenital primary megaureter, obstructed form
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) - J Pediatr Urol
  
  English (2014) British Association of Paediatric Urologists consensus statement on the management of the primary obstructive megaureter - J Pediatr Urol
Congenital primary megaureter, refluxing and obstructed form
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) - J Pediatr Urol
  
  English (2014) British Association of Paediatric Urologists consensus statement on the management of the primary obstructive megaureter - J Pediatr Urol
Congenital primary megaureter, refluxing form
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2014) Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) - J Pediatr Urol
  
  English (2014) British Association of Paediatric Urologists consensus statement on the management of the primary obstructive megaureter - J Pediatr Urol
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
Congenital pulmonary airway malformation
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Malformations pulmonaires congénitales de lenfant - PNDS
  
  Deutsch (2021) - AWMF
Congenital pulmonary airway malformation type 0
- Clinical practice guidelines
  Français (2021) Malformations pulmonaires congénitales de lenfant - PNDS
Congenital pulmonary airway malformation type 1
- Clinical practice guidelines
  Français (2021) Malformations pulmonaires congénitales de lenfant - PNDS
Congenital pulmonary airway malformation type 2
- Clinical practice guidelines
  Français (2021) Malformations pulmonaires congénitales de lenfant - PNDS
Congenital pulmonary airway malformation type 3
- Clinical practice guidelines
  Français (2021) Malformations pulmonaires congénitales de lenfant - PNDS
Congenital pulmonary airway malformation type 4
- Clinical practice guidelines
  Français (2021) Malformations pulmonaires congénitales de lenfant - PNDS
Congenital pulmonary lymphangiectasia
- 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
- Review article
  English (2006) - Orphanet J Rare Dis
Congenital pulmonary sequestration
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Congenital pulmonary valvar stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2018) - AWMF
Congenital pulmonary vein atresia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital pulmonary veins anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital pulmonary veins atresia or stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital pulmonary venous return anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital reticular ichthyosiform erythroderma
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Review article
  English (2015) - Orphanet J Rare Dis
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Congenital rubella syndrome
- Article for general public
  Français (2016.pdf) - Orphanet
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Congenital secondary polycythemia
- Clinical practice guidelines
  English (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
Congenital short bowel syndrome
- Clinical practice guidelines
  Français (2021) Syndrome du grêle court chez ladulte - PNDS
  
  Français (2023) Syndrome du grêle court de lenfant - PNDS
Congenital short QT syndrome
- Clinical practice guidelines
  Français (2009) - ALD
  
  Deutsch (2018) - AWMF
  
  English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace
- Review article
  Français (2007.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Congenital stationary night blindness
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2019) - GeneReviews
Congenital stenosis of the inferior vena cava
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital stromal corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Congenital sucrase-isomaltase deficiency
- Clinical practice guidelines
  Français (2025) Déficit congénital en sucrase-isomaltase (DCSI) - PNDS
Congenital supravalvular mitral ring
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital systemic veins anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital temporomandibular joint ankylosis
- Clinical practice guidelines
  Deutsch (2016) - AWMF
Congenital thrombotic thrombocytopenic purpura
- Emergency guidelines
  Français (2021.pdf) Microangiopathies thrombotiques - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Purpura thrombotique thrombocytopénique - PNDS
  
  English (2012) Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies - Br J Haematol
- Review article
  English (2019) Characterization and treatment of congenital thrombotic thrombocytopenic purpura - Blood
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Congenital total pulmonary venous return anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital toxoplasmosis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Congenital tricuspid malformation
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital tricuspid stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital tricuspid valve dysplasia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital tufting enteropathy
- Review article
  English (2007) - Orphanet J Rare Dis
Congenital unguarded mitral orifice
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Congenital urachal anomaly
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Congenital varicella syndrome
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Congenital vertebral-cardiac-renal anomalies syndrome
- Clinical genetics review
  English (2023) Congenital NAD Deficiency Disorder - GeneReviews
Congenital vitamin K-dependent coagulation factors deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Congenital-onset Steinert myotonic dystrophy
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Dystrophie Myotonique de type 1 'Maladie de Steinert' - PNDS
  
  English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2009) - ANPGM
Congenitally corrected transposition of the great arteries
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Deutsch (2021) - AWMF
- Review article
  English (2011) - Orphanet J Rare Dis
Congenitally uncorrected transposition of the great arteries
- Article for general public
  Français (2010.pdf) - Orphanet
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2008) Cardiopathies congénitales complexes : Transposition simple des gros vaisseaux - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
Congenitally uncorrected transposition of the great arteries with cardiac malformation
- Article for general public
  Français (2010.pdf) - Orphanet
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
Congenitally uncorrected transposition of the great arteries with coarctation
- Article for general public
  Français (2010.pdf) - Orphanet
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
Conjoined twins
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Conotruncal heart malformations
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Constitutional hemolytic anemia due to acanthocytosis
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Constitutional mismatch repair deficiency syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Contractures-developmental delay-Pierre Robin syndrome
- Clinical practice guidelines
  Français (2021) Séquence de Pierre Robin - PNDS
Conus spinal cord lipoma
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
COQ7-related distal hereditary motor neuropathy
- 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
Cor triatriatum dexter
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Cor triatriatum sinister
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Corneal dystrophy-perceptive deafness syndrome
- Review article
  English (2008) - Orphanet J Rare Dis
Cornelia de Lange syndrome
- Article for general public
  Français (2015) - Association française du Syndrome de Cornelia de Lange
  
  Svenska (2016) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Syndrome de Cornelia de Lange - PNDS
  
  Français (2022) Syndrome de Cornelia de Lange - PNDS
  
  English (2018) Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement - Nature Reviews Genetic
- Clinical genetics review
  English (2016) Cornelia de Lange Syndrome - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Corneodermatoosseous syndrome
- Review article
  English (2009) - Orphanet J Rare Dis
Coronary arterial fistula
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
- Review article
  English (2006) - Orphanet J Rare Dis
Coronary artery congenital malformation
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Coronary ostial stenosis or atresia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Coronary sinus stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Corpus callosum agenesis-neuronopathy syndrome
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Clinical genetics review
  English (2021) - GeneReviews
Costello syndrome
- Article for general public
  Français (2011.pdf) Le syndrome de Costello - Fondation Groupama
  
  Français (2008.pdf) - Orphanet
  
  Deutsch (2015.pdf) - BVHK
  
  Español (2015.pdf) - Asoc Sínd Noonan Cantabria
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) RASopathies : syndromes de Noonan, cardio-facio-cutané et apparentés - PNDS
  
  Français (2012) Syndrome de Costello - PNDS
  
  English (2019) Costello syndrome: Clinical phenotype, genotype, and management guidelines - Am J Med Genet
  
  Español (2012.pdf) - GT-CSGP
- Clinical genetics review
  English (2019) Costello Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  Deutsch (2015.pdf) - Kardiologe
Cowden syndrome
- Clinical practice guidelines
  English (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome - Eur J Hum Genet
  
  Español (2012.pdf) - GT-CSGP
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2008.pdf) - Eur J Hum Genet
  
  English (2021) PTEN Hamartoma Tumor Syndrome - GeneReviews
  
  English (2023) PIK3CA-Related Segmental Overgrowth - GeneReviews
Cranio-cervical dystonia with laryngeal and upper-limb involvement
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
Cranioectodermal dysplasia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2022) Cranioectodermal Dysplasia - GeneReviews
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Review article
  English (2009) - Orphanet J Rare Dis
Craniometaphyseal dysplasia
- Clinical genetics review
  English (2020) Craniometaphyseal Dysplasia, Autosomal Dominant - GeneReviews
Craniopharyngioma
- Article for general public
  Français (2008.pdf) - Orphanet
  
  English (2016) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Review article
  English (2017) - PDQ Cancer Inf Sum
Craniosynostosis
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2021) Updated Guideline on Treatment and Management of Craniosynostosis - J Craniofac Surg
- Review article
  English (2017) Multidisciplinary care of craniosynostosis - J Multidiscip Healthc
- Clinical genetics review
  English (2011) - Eur J Hum Genet
Craniosynostosis, Boston type
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Craniosynostosis, Herrmann-Opitz type
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Craniosynostosis, Philadelphia type
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Craniosynostosis-dental anomalies
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Clinical practice guidelines
  Français (2021) Malformation de Chiari - PNDS
Cree leukoencephalopathy
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
Crigler-Najjar syndrome
- Emergency guidelines
  Français (2022.pdf) Syndrome de Crigler-Najjar - Orphanet Urgences
  
  Italiano (2012.pdf) Sindrome di Crigler-Najjar, tipo 1 - Orphanet Urgences
Crigler-Najjar syndrome type 1
- Emergency guidelines
  Français (2022.pdf) Syndrome de Crigler-Najjar - Orphanet Urgences
  
  Italiano (2012.pdf) Sindrome di Crigler-Najjar, tipo 1 - Orphanet Urgences
Crisponi syndrome
- Clinical genetics review
  English (2016) - GeneReviews
Criss-cross heart
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Crouzon syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Italiano (2014) - Orphananesthesia
  
  Português (2014) - Orphananesthesia
- Clinical genetics review
  English (2020) FGFR-Related Craniosynostosis Syndromes - GeneReviews
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
Crouzon syndrome-acanthosis nigricans syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2020) - GeneReviews
Cryoglobulinemic vasculitis
- Article for general public
  Français (2014) - SNFMI
- Emergency guidelines
  Français (2023.pdf) Vascularite cryoglobulinémique - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Cryoglobulinémies - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
Cryptogenic late-onset epileptic spasms
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Emergency guidelines
  Français (2020.pdf) Syndrome de West - Orphanet Urgences
Cryptogenic organizing pneumonia
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Review article
  English (2022) Cryptogenic Organizing Pneumonia - N Engl J Med
CTCF-related neurodevelopmental disorder
- Clinical genetics review
  English (2024) CTCF-Related Disorder - GeneReviews
Currarino syndrome
- 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
- Review article
  Deutsch (2021) - Orphanet J Rare Dis
Curry-Jones syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Cushing disease
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  Deutsch (2020) - AWMF
  
  English (2022) Current clinical practice for thromboprophylaxis management in patients with Cushing's syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN) - Orphanet J Rare Dis
  
  English (2008) The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  English (2015) Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
  
  Español (2010.pdf) - CIBERER
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) AIP Familial Isolated Pituitary Adenomas - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cushing syndrome due to bilateral macronodular adrenocortical disease
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  Deutsch (2020) - AWMF
  
  English (2015) Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  Español (2010.pdf) - CIBERER
- Review article
  English (2015) Cushing's syndrome: epidemiology and developments in disease management - Clin Epidemiol
Cushing syndrome due to cortisol-producing adrenocortical adenoma
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
Cushing syndrome due to ectopic ACTH secretion
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  Deutsch (2020) - AWMF
  
  English (2015) Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  Español (2010.pdf) - CIBERER
- Review article
  English (2015) Cushing's syndrome: epidemiology and developments in disease management - Clin Epidemiol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cutaneous mastocytoma
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Cutaneous mastocytosis
- Article for general public
  Deutsch (2018.pdf) - ÄZQ
  
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Review article
  Français (2006.pdf) - Rev Praticien
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Cutaneous mastocytosis-deafness-microtia syndrome
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
Cutaneous neuroendocrine carcinoma
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  Español (2018.pdf) - GuíaSalud
- Review article
  English (2017) Merkel Cell Carcinoma of the Head and Neck: Recommendations for Diagnostics and Treatment - Ann Surg Oncol
Cutaneous polyarteritis nodosa
- 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
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Svenska (2014) - 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
- Clinical practice guidelines
  Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
Cutaneous pseudolymphoma
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2024) Identification of red flags for IgG4-related disease: an international European Reference Network for Rare Connective Tissue Diseases framework - Lancet Rheumatol
- Review article
  English (2014) - Orphanet J Rare Dis
- Diagnostic criteria
  English (2014) IgG4- related disease: an orphan disease with many faces - Orphanet J Rare Dis
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Cutaneous small vessel vasculitis
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Review article
  English (2005.pdf) - Orphanet
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2020) - GeneReviews
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Clinical genetics review
  English (2023) LTBP4-Related Cutis Laxa - GeneReviews
Cutis laxa-Marfanoid syndrome
- Article for general public
  Français (2019.pdf) - Fondation Groupama
Cutis marmorata telangiectatica congenita
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Cyclic neutropenia
- Emergency guidelines
  Français (2009.pdf) Neutropénie constitutionnelle sévère - Orphanet Urgences
  
  Deutsch (2009.pdf) Schwere konstitutionelle Neutropenie - Orphanet Urgences
  
  Español (2009.pdf) Neutropenia constitucional grave - Orphanet Urgences
  
  Italiano (2012.pdf) Neutropenia costituzionale grave - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
Cystic fibrosis
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Deutsch (2023) - ÄZQ
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Mucoviscidose - Orphanet Urgences
  
  Deutsch (2014.pdf) Mukoviszidose - Orphanet Urgences
  
  Español (2019.pdf) Mucoviscidosis - Orphanet Urgences
  
  Italiano (2009.pdf) Fibrosi cistica - Orphanet Urgences
  
  Português (2009.pdf) Fibrose quística - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2016) - Orphananesthesia
  
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Mucoviscidose - PNDS
  
  Français (2021) Évaluation diagnostique et prise en charge des affections liées ou associées à CFTR - PNDS
  
  Deutsch (2019) - AWMF
  
  Deutsch (2022) - AWMF
  
  English (2022) ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria - J Cyst Fibros
  
  English (2015.pdf) Living longer with Cystic Fibrosis - European Cystic Fibrosis Society
  
  English (2020) Optimizing Pharmaceutical Care in Cystic Fibrosis - European Cystic Fibrosis Society
  
  English (2023) Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis - J Cyst Fibros
  
  English (2018.pdf) The early cystic fibrosis years - European Cystic Fibrosis Society
  
  English (2018) ECFS best practice guidelines: the 2018 revision - J Cyst Fibros
- Clinical genetics review
  English (2023) Cystic Fibrosis - GeneReviews
- Diagnostic criteria
  Deutsch (2023) - AWMF
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Cystic leukoencephalopathy without megalencephaly
- Clinical genetics review
  English (2014) - GeneReviews
Cysticercosis
- Review article
  English (2013) Neurocysticercosis: A disease of neglect - Trop Parasitol
- Diagnostic criteria
  English (2012) Diagnostic criteria for neurocysticercosis, revisited - Pathog Glob Health
Cystinosis
- Article for general public
  English (2017) - Cystinosis United
  
  Svenska (2017) - Socialstyrelsen
- Clinical practice guidelines
  English (2019) Management of bone disease in cystinosis: Statement from an international conference - J Inherit Metab Dis
  
  Español (2015) - Nefrologia
- Review article
  English (2016) Cystinosis: a review - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Cystinosis - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
- 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
Cystinuria
- Clinical practice guidelines
  Français (2019) La Cystinurie - PNDS
  
  English (2021) Cystinuria: clinical practice recommendation - Kidney Int
- Review article
  English (2012) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Cystinuria type A
- Clinical practice guidelines
  Français (2019) La Cystinurie - PNDS
  
  English (2021) Cystinuria: clinical practice recommendation - Kidney Int
- Review article
  English (2012) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Cystinuria type B
- Clinical practice guidelines
  Français (2019) La Cystinurie - PNDS
  
  English (2021) Cystinuria: clinical practice recommendation - Kidney Int
- Review article
  English (2012) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Knowledge on rare diseases and orphan drugs

Encyclopaedia

ALPHABETICAL LIST

ALPHABETICAL LIST

ORPHANET USER SATISFACTION SURVEY 2025