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Waardenburg syndrome
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Disability factsheet
  Français (2020.pdf) - Orphanet
Waardenburg syndrome type 1
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical genetics review
  English (2022) - GeneReviews
- Disability factsheet
  Français (2020.pdf) - Orphanet
Waardenburg syndrome type 2
- Article for general public
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Waardenburg syndrome type 3
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Disability factsheet
  Français (2020.pdf) - Orphanet
Waardenburg-Shah syndrome
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Disability factsheet
  Français (2020.pdf) - Orphanet
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- Article for general public
  English (2019.pdf) WAC Syndrome (DeSanto-Shinawi Syndrome) - Unique
  
  Русский (2019.pdf) WAC Syndrome (DeSanto-Shinawi Syndrome) - Unique
- Clinical genetics review
  English (2017) WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - GeneReviews
Wagner disease
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2016) VCAN-Related Vitreoretinopathy - GeneReviews
WAGR syndrome
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome WAGR - PNDS
  
  Español (2013.pdf) - GT-CSGP
- Clinical genetics review
  English (2018) PAX6-Related Aniridia - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Waldenström macroglobulinemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  English (2014) Guidelines on the diagnosis and management of Waldenström macroglobulinaemia - Br J Haematol
  
  Nederlands (2012.pdf) Richtlijn voor diagnostiek en behandeling van de ziekte van Waldenström - Ned Tijdschr Hematol
- Review article
  Deutsch (2010) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Walker-Warburg 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
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- 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
  
  English (2010) Consensus statement on standard of care for congenital muscular dystrophies - J Child Neurol
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2012) - GeneReviews
WARS2-related combined oxidative phosphorylation defect
- Clinical genetics review
  English (2023) WARS2 Deficiency - GeneReviews
Warsaw breakage syndrome
- Clinical genetics review
  English (2019) Warsaw Syndrome - GeneReviews
Warts-immunodeficiency-lymphedema-anogenital dysplasia 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
Waterhouse-Friderichsen syndrome
- Clinical practice guidelines
  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
Weaver syndrome
- Clinical genetics review
  English (2018) EZH2-Related Overgrowth - GeneReviews
Weill-Marchesani syndrome
- Clinical genetics review
  English (2020) Weill-Marchesani Syndrome - GeneReviews
Weiss-Kruszka Syndrome
- Clinical genetics review
  English (2019) Weiss-Kruszka Syndrome - GeneReviews
Well-differentiated liposarcoma
- 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
Well-differentiated thymic neuroendocrine carcinoma
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Werner syndrome
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
West-Nile encephalitis
- Article for general public
  Français (2016) - Minist Santé et Prévention
- Clinical practice guidelines
  Deutsch (2018) - AWMF
Western equine encephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
WHIM syndrome
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2010.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
  
  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 (2011) - Orphanet J Rare Dis
Whipple disease
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Deutsch (2015.pdf) - AWMF
  
  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
White platelet syndrome
- 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
White-Sutton syndrome
- Clinical practice guidelines
  Français (2022) Syndrome de White-Sutton - PNDS
  
  Français (2022) Syndrome de White-Sutton - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
Wieacker-Wolff syndrome
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
Wiedemann-Rautenstrauch syndrome
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Wiedemann-Steiner syndrome
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Syndrome de Wiedemann-Steiner (WSS) - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Wild type ABeta2M amyloidosis
- Article for general public
  Français (2014) - SNFMI
Wild type ATTR amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2021) Amylose cardiaque - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Williams syndrome
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  Français (2020) - Orphananesthesia
  
  Deutsch (2020) - Orphananesthesia
  
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2014) Syndrome de Williams-Beuren - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2010.pdf) Management of Williams Syndrome - A Clinical Guideline - Dyscerne
- Review article
  Français (2006.pdf) - Rev Praticien
- Clinical genetics review
  English (2023) Williams Syndrome - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
  
  English (2014) - Eur J Hum Genet
Williams-Campbell syndrome
- Clinical practice guidelines
  Français (2021) Bronchectasie de lenfant, diagnostic et prise en charge (hors mucoviscidose et dyskinésies ciliaires primitives) - PNDS
Wilson disease
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Español (2019.pdf) - Fundació per Amor a l Art
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Maladie de Wilson - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2012) EASL Clinical Practice Guidelines: Wilson's disease - J Hepatol
  
  English (2025) EASL-ERN Clinical Practice Guidelines on Wilson's disease - J Hepatol
- Review article
  English (2015) Wilson's disease: A review of what we have learned - World J Hepatol
- Clinical genetics review
  English (2023) Wilson Disease - GeneReviews
- Disability factsheet
  Dansk (2013) - Sjaeldne Diagnoser
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Wiskott-Aldrich syndrome
- Article for general public
  Français (2018.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
  
  Português (2007.pdf) - IPOPI
- 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 (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 (2016) WAS-Related Disorders - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Wolcott-Rallison syndrome
- Review article
  English (2010) - Orphanet J Rare Dis
Wolf-Hirschhorn syndrome
- Article for general public
  English (2019.pdf) Wolf-Hirschhorn Syndrome (4p16.3 deletions) - Unique
  
  Svenska (2018) - Socialstyrelsen
  
  Русский (2020.pdf) Wolf-Hirschhorn Syndrome (4p16.3 deletions) - Unique
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Syndrome de Wolf-Hirschhorn - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
  
  Español (2010.pdf) - ECEMC
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Wolfram syndrome
- Article for general public
  Français (2014.pdf) - Orphanet
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Syndrome de Wolfram - PNDS
  
  Español (2021.pdf) - SAMFyC
- Clinical genetics review
  English (2022) WFS1 Spectrum Disorder - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Guidance for genetic testing
  English (2016) - Eur J Hum Genet
Wolfram-like syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Syndrome de Wolfram - PNDS
- Clinical genetics review
  English (2022) WFS1 Spectrum Disorder - GeneReviews
Wolman disease
- Clinical genetics review
  English (2016) Lysosomal Acid Lipase Deficiency - GeneReviews
Woodhouse-Sakati syndrome
- Clinical practice guidelines
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
  
  English (2021) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Woolly hair
- Review article
  English (2015) The twisting tale of woolly hair: a trait with many causes - J Med Genet
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
- 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
Worster-Drought syndrome
- Article for general public
  Svenska (2015) - Socialstyrelsen
Wrinkly skin syndrome
- Clinical genetics review
  English (2023) ATP6V0A2-Related Cutis Laxa - GeneReviews
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
WT limb-blood syndrome
- Clinical practice guidelines
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol