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Rabies
- Clinical practice guidelines
  Deutsch (2018) - AWMF
Rabson-Mendenhall syndrome
- Clinical genetics review
  English (2018) - GeneReviews
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- 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
  
  Deutsch (2024) - AWMF
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Ramon syndrome
- Review article
  English (2016) Gingival fibromatosis: clinical, molecular and therapeutic issues - Orphanet J Rare Dis
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Rapid-onset dystonia-parkinsonism
- Clinical practice guidelines
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Review article
  English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
- Clinical genetics review
  English (2017) Hereditary Dystonia Overview - GeneReviews
  
  English (2014) - GeneReviews
Rapidly involuting congenital hemangioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2020) - AWMF
- Review article
  English (2017) - PDQ Cancer Inf Sum
Rare acquired aplastic anemia
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  Deutsch (2024) - onkopedia
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
Rare acquired premature ovarian failure
- Clinical practice guidelines
  Français (2021) Insuffisance Ovarienne Prématurée (IOP) - PNDS
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare adenocarcinoma of the breast
- Article for general public
  Français (2013) - INCa
Rare adrenocortical nodular disease
- Clinical practice guidelines
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Rare adrenocortical nodular disease with Cushing syndrome as a major feature
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
Rare aplastic anemia
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  Deutsch (2024) Aplastische Anämie - onkopedia
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
- Review article
  English (2019) Molecular pathogenesis of acquired aplastic anemia - Eur J Haematol
Rare arteriovenous malformation
- Emergency guidelines
  Français (2018.pdf) Malformations artérioveineuses médullaires - Orphanet Urgences
Rare 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
Rare atrial defect and interatrial communication
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
- Clinical genetics review
  English (2023) Genetic Hearing Loss Overview - GeneReviews
  
  English (2018) DFNA2 Nonsyndromic Hearing Loss - GeneReviews
  
  English (2017) TBC1D24-Related Disorders - GeneReviews
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
- Clinical practice guidelines
  Français (2022) Synaptopathie due aux variations pathogènes du gène OTOF - PNDS
- Clinical genetics review
  English (2023) Genetic Hearing Loss Overview - GeneReviews
  
  English (2023) GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss - GeneReviews
  
  English (2018) DFNA2 Nonsyndromic Hearing Loss - GeneReviews
  
  English (2021) OTOF-Related Deafness - GeneReviews
  
  English (2017) TBC1D24-Related Disorders - GeneReviews
Rare cancer of cervix uteri
- Article for general public
  Français (2011) - INCa
  
  Deutsch (2018.pdf) - AWMF
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Rare cancer of corpus uteri
- Article for general public
  Français (2013) - INCa
Rare carcinoma of pancreas
- Article for general public
  Français (2012) - INCa
  
  Deutsch (2010) - Onkopedia
- Clinical practice guidelines
  Français (2010) - ALD
- Review article
  Deutsch (2018) - Onkopedia
  
  English (2017) - PDQ Cancer Inf Sum
Rare carcinoma of stomach
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
Rare cardiac rhythm disease
- Clinical practice guidelines
  English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace
Rare cardiomyopathy
- Article for general public
  Deutsch (2015.pdf) - BVHK
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Rare cause of hypertension
- Diagnostic Keys
  Français (2022) Protéinurie - Les clés du diagnostic
Rare congenital anomaly of ventricular septum
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Rare congenital non-syndromic heart malformation
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Rare constitutional aplastic anemia
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  Deutsch (2024) Aplastische Anämie - onkopedia
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
Rare constitutional hemolytic anemia
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Rare constitutional hemolytic anemia due to an enzyme disorder
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Rare cutaneous lupus erythematosus
- Clinical practice guidelines
  Deutsch (2020) - AWMF
- Review article
  English (2019) Advances in Cutaneous Lupus Erythematosus and Dermatomyositis: A Report from the 4th International Conference on Cutaneous Lupus Erythematosus-An Ongoing Need for International Consensus and Collaborations - J Invest Dermatol
Rare developmental defect during embryogenesis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Rare disease with adrenal Cushing syndrome as a major feature
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Rare disease with autism
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Rare disease with Pierre Robin syndrome
- Clinical practice guidelines
  Français (2021) Séquence de Pierre Robin - PNDS
Rare disease with thoracic aortic aneurysm and aortic dissection
- Clinical practice guidelines
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
  
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
- Guidance for genetic testing
  Deutsch (2018) - DGK
Rare disorder potentially indicated for hematopoietic stem cell transplant
- Emergency guidelines
  Français (2025.pdf) Personnes allogreffées de cellules souches hématopoïétiques - Orphanet Urgences
Rare disorder with a moyamoya angiopathy
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Italiano (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Maladie et syndrome de moyamoya de lenfant et de ladulte - PNDS
- Review article
  English (2015) Moyamoya disease and syndromes: from genetics to clinical management - Appl Clin Genet
- Disability factsheet
  Français (2018.pdf) - Orphanet
Rare disorder with dystonia and other neurologic or systemic manifestation
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare dyslipidemia
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Rare 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
Rare epithelial tumor of stomach
- Article for general public
  Français (2014) - INCa
- Clinical practice guidelines
  Français (2011) - ALD
Rare familial disorder with hypertrophic cardiomyopathy
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Cardiomyopathie Hypertrophique (CMH) - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2014) 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) - Eur Heart J
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Rare female infertility due to a congenital hypogonadotropic hypogonadism
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare genetic deafness
- Clinical genetics review
  English (2023) Hereditary Hearing Loss and Deafness Overview - GeneReviews
Rare genetic developmental defect during embryogenesis
- Review article
  Español (2022) Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD) - SEEP
Rare genetic premature ovarian failure
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare hemorrhagic disorder due to a coagulation factors defect
- 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
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
- 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
Rare hemorrhagic disorder due to a constitutional platelet anomaly
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
Rare hemorrhagic disorder due to a platelet anomaly
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
Rare hemorrhagic disorder due to a qualitative platelet defect
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
Rare hemorrhagic disorder due to an acquired coagulation factor defect
- 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
Rare hemorrhagic disorder due to an acquired platelet anomaly
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Rare hereditary hemochromatosis
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  English (2011) Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases - Hepatology
  
  English (2022) EASL Clinical Practice Guidelines on haemochromatosis - J Hepatol
  
  English (2016) EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Eur J Hum Genet
- Clinical genetics review
  English (2023) TFR2-Related Hereditary Hemochromatosis - GeneReviews
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Rare hypercholesterolemia
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Rare hyperlipidemia
- Clinical practice guidelines
  Deutsch (2015) - AWMF
- Clinical genetics review
  English (2014) - GeneReviews
Rare hyperparathyroidism
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare hyperthyroidism
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare hypertrophic cardiomyopathy
- Article for general public
  Deutsch (2015.pdf) - BVHK
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Cardiomyopathie Hypertrophique (CMH) - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2020) 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines - Circulation
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Rare hypoparathyroidism
- Clinical practice guidelines
  Français (2017) Hypoparathyroïdie - PNDS
  
  English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol
  
  English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol
Rare infantile hemangioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Rare intellectual disability
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Rare lichen planus
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Rare lymphatic malformation
- Clinical practice guidelines
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
Rare malignant breast tumor
- Article for general public
  Français (2013) - INCa
Rare mitochondrial non-syndromic sensorineural deafness
- Clinical genetics review
  English (2018) Nonsyndromic Hearing Loss and Deafness, Mitochondrial - GeneReviews
  
  English (2023) Genetic Hearing Loss Overview - GeneReviews
Rare nervous system tumor
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Rare non surgically correctable form of primary aldosteronism
- Clinical practice guidelines
  Français (2016) - SFE
  
  English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
Rare non-acquired premature ovarian failure
- Clinical practice guidelines
  Français (2021) Insuffisance Ovarienne Prématurée (IOP) - PNDS
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare non-syndromic intellectual disability
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Rare otorhinolaryngologic tumor
- Article for general public
  Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
Rare ovarian cancer
- Article for general public
  Français (2010) - INCa
  
  Deutsch (2018.pdf) - AWMF
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
Rare pediatric vasculitis
- Emergency guidelines
  Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
Rare peripheral neuropathy
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Rare pervasive developmental disorder
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Rare primary hyperaldosteronism
- Clinical practice guidelines
  Français (2016) - SFE
  
  English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
Rare pulmonary hypertension
- Clinical practice guidelines
  English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
- Diagnostic Keys
  Français (2024) Dyspnée chez l'adulte - Les clés du diagnostic
Rare renal tubular disease
- Diagnostic Keys
  Français (2022) Protéinurie - Les clés du diagnostic
Rare retinal disorder
- Article for general public
  Deutsch (2013.pdf) - ÄZQ
Rare surgical cardiac disease
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Rare surgically correctable form of primary aldosteronism
- Clinical practice guidelines
  Français (2016) - SFE
  
  English (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
- Review article
  English (2010) - Orphanet J Rare Dis
Rare syndrome with cardiac malformations
- Article for general public
  Deutsch (2015.pdf) - BVHK
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
Rare thrombotic disorder due to a coagulation factors defect
- Clinical practice guidelines
  Français (2021) Déficits rares en protéines de la coagulation - PNDS
Rare thrombotic disorder due to a constitutional coagulation factors defect
- Clinical practice guidelines
  Français (2021) Déficits rares en protéines de la coagulation - PNDS
Rare thrombotic disorder due to an acquired coagulation factors defect
- Clinical practice guidelines
  Français (2021) Déficits rares en protéines de la coagulation - PNDS
Rare thyroid carcinoma
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  English (2012) Management of Thyroid Carcinoma in Children and Young Adults - J Pediatr Hematol Oncol
Rare thyroid tumor
- Article for general public
  Deutsch (2014.pdf) - ACHSE
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Rare tumor of neuroepithelial tissue
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Rare tumor of salivary glands
- Article for general public
  Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
Rare urticaria
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Rare vascular liver disease
- Clinical practice guidelines
  English (2021) Vascular Liver Disorders, Portal Vein Thrombosis, and Procedural Bleeding in Patients With Liver Disease: 2020 Practice Guidance by the American Association for the Study of Liver Diseases - Hepatology
  
  English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
Rare vascular tumor
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Rare vulvovaginal tumor
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Rare X-linked non-syndromic sensorineural deafness type DFN
- Clinical genetics review
  English (2023) Genetic Hearing Loss Overview - GeneReviews
RAS-associated autoimmune leukoproliferative disease
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Rasmussen subacute encephalitis
- Article for general public
  Svenska (2020) - Socialstyrelsen
Recessive dystrophic epidermolysis bullosa inversa
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Clinical genetics review
  English (2018) Dystrophic Epidermolysis Bullosa - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Recessive mitochondrial ataxia 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
Recessive X-linked ichthyosis
- 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
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Recurrent infections associated with rare immunoglobulin isotypes deficiency
- Emergency guidelines
  Français (2020.pdf) Déficits immunitaires humoraux chez ladulte - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Recurrent infections due to specific granule deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Emergency guidelines
  Français (2023) Rhabdomyolyse par déficit en TANGO 2 - G2M
  
  English (2023.pdf) TANGO 2 deficiency - G2M
- Clinical genetics review
  English (2023) TANGO2 Deficiency - GeneReviews
Recurrent Neisseria infections due to factor D deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Recurrent respiratory papillomatosis
- Article for general public
  Français (2018) - Tous à l'école
  
  English (2010) - NIDCD
- Clinical practice guidelines
  Français (2022) Papillomatose respiratoire récurrente - PNDS
- Disability factsheet
  Français (2018.pdf) - Orphanet
Reflex epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Refractory anemia with excess blasts in transformation
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - 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
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2021) - Onkopedia
Refractory celiac disease
- Clinical genetics review
  English (2019) Celiac Disease - GeneReviews
Refractory cytopenia with multilineage dysplasia
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - 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
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Refsum disease
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2013.pdf) - Orphanet
  
  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 (2015) - 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 (2022) - 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 (2013.pdf) - Eur J Hum Genet
  
  English (2021) Adult Refsum Disease - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
Regional variant of Guillain-Barré syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Reis-Bücklers corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
RELA fusion-positive ependymoma
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Relapsing fever
- Clinical practice guidelines
  Español (2020.pdf) - Asoc Española de Pediatría
Relapsing polychondritis
- Article for general public
  Français (2014) - SNFMI
  
  Deutsch (2017.pdf) - ACHSE
- Emergency guidelines
  Français (2019.pdf) Polychondrite atrophiante - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2021) Polychondrite Chronique Atrophiante - PNDS
- Review article
  English (2013) Relapsing polychondritis: a review - Clin Rheumatol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
REN-related autosomal dominant tubulointerstitial kidney disease
- Clinical genetics review
  English (2020) Autosomal Dominant Tubulointerstitial Kidney Disease REN - GeneReviews
Renal agenesis
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal agenesis, bilateral
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal agenesis, unilateral
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal cell carcinoma
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Renal coloboma syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2011) - Eur J Hum Genet
  
  English (2018) PAX2-Related Disorder - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Renal dysplasia
- Clinical practice guidelines
  English (2022) Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations - Nephrol Dial Transplant
Renal dysplasia, bilateral
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2022) Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations - Nephrol Dial Transplant
Renal dysplasia, unilateral
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2022) Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations - Nephrol Dial Transplant
Renal hypoplasia
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal hypoplasia, bilateral
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
- Clinical genetics review
  English (2018) PAX2-Related Disorder - GeneReviews
Renal hypoplasia, unilateral
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal medullary carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Renal pseudohypoaldosteronism type 1
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Renal tubular dysgenesis
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal tubular dysgenesis due to twin-twin transfusion
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renal tubular dysgenesis of genetic origin
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Renin-angiotensin-aldosterone system-blocker-induced angioedema
- Emergency guidelines
  Français (2021.pdf) Angidème bradykinique - Orphanet Urgences
  
  Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
  
  Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences
  
  English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
  
  Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences
  
  Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences
  
  Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
RERE-related neurodevelopmental syndrome
- Clinical genetics review
  English (2019) RERE-Related Disorders - GeneReviews
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
- Clinical practice guidelines
  Français (2024) Résistance aux hormones thyroïdiennes par mutation du récepteur aux hormones thyroïdiennes bêta - PNDS
Resistance to thyrotropin-releasing hormone syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
  
  English (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
Respiratory bronchiolitis-interstitial lung disease syndrome
- 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 (2014) - Orphanet J Rare Dis
Restrictive cardiomyopathy
- Article for general public
  Deutsch (2015.pdf) - BVHK
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Retained medullary cord
- 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
Reticular dysgenesis
- 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
Retiform hemangioendothelioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Retinal capillary malformation
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Retinal ciliopathy due to mutation in Bardet-Biedl gene
- Disability factsheet
  Français (2019.pdf) - Orphanet
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
- Clinical genetics review
  English (2017) Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
- Article for general public
  Deutsch (2013.pdf) - ÄZQ
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
- Clinical genetics review
  English (2024) ALPK1-Related Autoinflammatory Disease - GeneReviews
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
  
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2019) Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations - GeneReviews
Retinitis pigmentosa
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews
- Disability factsheet
  Français (2016.pdf) - Orphanet
Retinoblastoma
- Article for general public
  Français (2005.pdf) - Institut Curie
  
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2009.pdf) - Canadian Journal of Ophthalmology.
  
  English (2009) National Retinoblastoma Strategy Canadian Guidelines for Care: Stratégie thérapeutique du rétinoblastome guide clinique canadien - Can J Ophthalmol
- Review article
  English (2012) Retinoblastoma - Lancet
- Clinical genetics review
  English (2023) Retinoblastoma - GeneReviews
- Disability factsheet
  Français (2016.pdf) - Orphanet
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Retinopathy of prematurity
- Clinical practice guidelines
  Français (2024) Prise en charge de la Rétinopathie du prématuré - PNDS
- Review article
  English (2013) Retinopathy of prematurity - Lancet
- Clinical genetics review
  English (2023) NDP-Related Retinopathies - GeneReviews
Rett syndrome
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Deutsch (2021.pdf) - Kindernetzwerk e.V.
  
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2020.pdf) Syndrome de Rett - Orphanet Urgences
  
  Español (2023.pdf) Síndrome de Rett - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
  
  Français (2017) Syndrome de Rett et apparentés - PNDS
  
  Français (2017) Syndrome de Rett et apparentés - PNDS
- Clinical genetics review
  English (2005.pdf) - Eur J Hum Genet
  
  English (2019) MECP2 Disorders - GeneReviews
- Diagnostic criteria
  English (2010) Rett syndrome: revised diagnostic criteria and nomenclature - Ann Neurol
- Disability factsheet
  Français (2018.pdf) - Orphanet
  
  Dansk (2018) - Sjaeldne Diagnoser
- Guidance for genetic testing
  Français (2012.pdf) - ANPGM
Reversible cerebral vasoconstriction syndrome
- Review article
  English (2012) Reversible cerebral vasoconstriction syndrome - Lancet Neurol
Revesz syndrome
- Clinical practice guidelines
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
Reynolds syndrome
- Emergency guidelines
  Français (2025.pdf) Sclérodermie systémique - Orphanet Urgences
  
  Deutsch (2010.pdf) Systemische Sklerodermie - Orphanet Urgences
  
  Español (2017.pdf) Esclerodermia sistémica - Orphanet Urgences
  
  Italiano (2014.pdf) Sclerodermia sistemica - Orphanet Urgences
RFT1-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
RFVT2-related riboflavin transporter deficiency
- 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
Rh deficiency syndrome
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Rhabdoid tumor
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
- Clinical genetics review
  English (2022) Rhabdoid Tumor Predisposition Syndrome - GeneReviews
Rhabdoid tumor predisposition syndrome
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
- Clinical genetics review
  English (2022) Rhabdoid Tumor Predisposition Syndrome - GeneReviews
Rhabdomyosarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  Deutsch (2019) - Onkopedia
  
  English (2016) - PDQ Cancer Inf Sum
Rhabdomyosarcoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
Rhabdomyosarcoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Rheumatic fever
- 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 (2024) - AWMF
- Review article
  English (2011) The worldwide epidemiology of acute rheumatic fever and rheumatic heart disease - Clin Epidemiol
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
  
  Deutsch (2019) - AWMF
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Diagnostic Keys
  Français (2022) Arthrite - Les clés du diagnostic
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
  
  Deutsch (2019) - AWMF
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Diagnostic Keys
  Français (2022) Arthrite - Les clés du diagnostic
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Rhizomelic chondrodysplasia punctata
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
- Clinical genetics review
  English (2020) Rhizomelic Chondrodysplasia Punctata Type 1 - GeneReviews
Rhizomelic chondrodysplasia punctata type 1
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
  
  Svenska (2015) - Socialstyrelsen
Rhizomelic chondrodysplasia punctata type 2
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
  
  Svenska (2015) - Socialstyrelsen
Rhizomelic chondrodysplasia punctata type 3
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
  
  Svenska (2015) - Socialstyrelsen
Rhizomelic chondrodysplasia punctata type 5
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
Riboflavin transporter deficiency
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
- Review article
  English (2012.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Riboflavin Transporter Deficiency - GeneReviews
Richards-Rundle 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
RIDDLE syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Right aortic arch
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Right inferior vena cava connecting to left-sided atrium
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Right sided atrial isomerism
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Right superior vena cava connecting to left-sided atrium
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Rigid spine syndrome
- 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
Ring chromosome 1 syndrome
- Article for general public
  English (2007.pdf) Supernumerary Ring Chromosome 1 - Unique
Ring chromosome 13 syndrome
- Article for general public
  Français (2018.pdf) Chromosme 13 En Anneau - Unique
  
  English (2006.pdf) Ring 13 - Unique
  
  Español (2006.pdf) Cromosoma 13 En Anillo Spanish - Unique
  
  Русский (2006.pdf) Ring 13 - Unique
Ring chromosome 14 syndrome
- Article for general public
  Français (2012.pdf) Chromosome 14 En Anneau - Unique
  
  Français (2012.pdf) Chromosome 14 En Anneau - Unique
  
  English (2005.pdf) Ring 14 - Unique
- Clinical practice guidelines
  English (2017) Guideline recommendations for diagnosis and clinical management of Ring14 syndromefirst report of an ad hoc task force - Orphanet J Rare Dis
Ring chromosome 15 syndrome
- Article for general public
  Français (2012.pdf) Chromosome 15 En Anneau - Unique
  
  English (2018.pdf) Ring 15 - Unique
Ring chromosome 17 syndrome
- Article for general public
  Français (2022.pdf) Ring chromosome 17 - Unique
  
  English (2022.pdf) Ring chromosome 17 - Unique
  
  Русский (2023.pdf) Ring chromosome 17 - Unique
Ring chromosome 18 syndrome
- Article for general public
  Français (2010.pdf) 18 Chromosome 18 En Anneau - Unique
  
  Deutsch (2007.pdf) 18 Ringchromosom 18 German - Unique
  
  English (2005.pdf) Ring 18 - Unique
  
  Español (2018.pdf) Ring 18 Spanish - Unique
  
  ქართული (2005) Ring 18 - Unique
  
  Русский (2005.pdf) Ring 18 - Unique
  
  Italiano (2012.pdf) Ring 18 - Unique
Ring chromosome 2 syndrome
- Article for general public
  Français (2018.pdf) Chromosome 2 En Anneau - Unique
  
  English (2005.pdf) Ring 2 - Unique
Ring chromosome 20 syndrome
- Article for general public
  English (2014.pdf) Ring 20 - Unique
Ring chromosome 21 syndrome
- Article for general public
  Français (2018.pdf) Chromosome 21 En Anneau - Unique
  
  Français (2018.pdf) Chromosome 21 En Anneau - Unique
  
  English (2005.pdf) Ring 21 - Unique
  
  Русский (2005.pdf) Ring 21 - Unique
  
  Русский (2005.pdf) Ring 21 - Unique
Ring chromosome 22 syndrome
- Article for general public
  Français (2008.pdf) Chromosome 22 En Anneau - Unique
  
  Deutsch (2008.pdf) 22 Ringchromosom German - Unique
  
  English (2014.pdf) Ring 22 - Unique
  
  Nederlands (2014.pdf) Ring 22 - Unique
  
  Svenska (2022) - Socialstyrelsen
Ring chromosome 9 syndrome
- Article for general public
  English (2008.pdf) Ring 9 - Unique
RNASEH2B-related hereditary spastic paraplegia
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
Roberts syndrome
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical genetics review
  English (2020) - GeneReviews
Robinow syndrome
- Clinical genetics review
  English (2019) ROR2-Related Robinow Syndrome - GeneReviews
Roifman syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Clinical genetics review
  English (2023) RNU4atac-opathy - GeneReviews
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Rolandic epilepsy-speech dyspraxia syndrome
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Clinical genetics review
  English (2016) - GeneReviews
Romano-Ward syndrome
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Emergency guidelines
  Français (2015.pdf) Syndrome du QT long - Orphanet Urgences
  
  Español (2008.pdf) Síndrome de QT largo familiar - Orphanet Urgences
  
  Italiano (2015.pdf) Sindrome del QT lungo - Orphanet Urgences
  
  Italiano (2008.pdf) Sindrome familiare del QT lungo - Orphanet Urgences
  
  Português (2008.pdf) Síndrome do QT longo familiar - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndrome du QT Long - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Long QT Syndrome - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2016.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Rosaï-Dorfman disease
- Clinical practice guidelines
  English (2018) Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease - Blood
Rosette-forming glioneuronal tumor
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Rothmund-Thomson syndrome
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Rothmund-Thomson Syndrome - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Rothmund-Thomson syndrome type 1
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Rothmund-Thomson Syndrome - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Rothmund-Thomson syndrome type 2
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Rothmund-Thomson Syndrome - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Rotor syndrome
- Clinical genetics review
  English (2019) Rotor Syndrome - GeneReviews
Roussy-Lévy syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Rubella panencephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Rubinstein-Taybi syndrome
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Svenska (2023) Rubinstein-Taybis syndrom - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Syndrome de Rubinstein-Taybi - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
  
  English (2024) Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement - J Med Genet
- Review article
  English (2015) Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management - Ital J Pediatr
- Clinical genetics review
  English (2023) Rubinstein-Taybi Syndrome - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
  
  Dansk (2018) - Sjaeldne Diagnoser
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Article for general public
  Svenska (2023) Rubinstein-Taybis syndrom - Socialstyrelsen
  
  Svenska (2016) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Clinical practice guidelines
  English (2024) Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement - J Med Genet
- Review article
  English (2015) Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management - Ital J Pediatr
- Clinical genetics review
  English (2023) Rubinstein-Taybi Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Rubinstein-Taybi syndrome due to CREBBP mutations
- Article for general public
  Svenska (2023) Rubinstein-Taybis syndrom - Socialstyrelsen
  
  Svenska (2016) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Clinical practice guidelines
  English (2024) Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement - J Med Genet
- Review article
  English (2015) Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management - Ital J Pediatr
- Clinical genetics review
  English (2023) Rubinstein-Taybi Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Article for general public
  Svenska (2023) Rubinstein-Taybis syndrom - Socialstyrelsen
  
  Svenska (2016) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Clinical practice guidelines
  English (2024) Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement - J Med Genet
- Review article
  English (2015) Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management - Ital J Pediatr
- Clinical genetics review
  English (2023) Rubinstein-Taybi Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet

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