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B-cell chronic lymphocytic leukemia
- Article for general public
  Français (2015) - INCa
  
  Deutsch (2023) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2020) Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma, Version 4.2020, NCCN Clinical Practice Guidelines in Oncology - J Natl Compr Canc Netw
- Clinical genetics review
  English (2022) POT1 Tumor Predisposition - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
B-cell non-Hodgkin lymphoma
- Clinical practice guidelines
  Français (2012) - ALD
  
  Deutsch (2023) - AWMF
  
  Deutsch (2022) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- 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
B4GALT1-CDG
- Clinical genetics review
  English (2017) - GeneReviews
B4GALT7-related spondylodysplastic 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
  English (2016) - Eur J Hum Genet
Babesiosis
- Review article
  English (2012) Human babesiosis - N Engl J Med
Bainbridge-Ropers syndrome
- Clinical genetics review
  English (2020) ASXL3-Related Disorder - GeneReviews
Baller-Gerold syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2018) - GeneReviews
Bamforth-Lazarus 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Bannayan-Riley-Ruvalcaba syndrome
- Clinical practice guidelines
  English (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome - Eur J Hum Genet
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) PTEN Hamartoma Tumor Syndrome - GeneReviews
- Diagnostic criteria
  English (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria - J Natl Cancer Inst
BAP1-related tumor predisposition syndrome
- Clinical practice guidelines
  English (2023) Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome - Eur J Hum Genet
- Clinical genetics review
  English (2022) BAP1 Tumor Predisposition Syndrome - GeneReviews
Baraitser-Winter cerebrofrontofacial syndrome
- Article for general public
  Русский (2018) BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome - Unique
  
  中文 (2018) BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome Chinese - Unique
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Bardet-Biedl syndrome
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Syndrome de Bardet-Biedl - PNDS
  
  Français (2019) Syndrome de Bardet-Biedl - PNDS
  
  Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
  
  English (2024) Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations - Eur J Hum Genet
  
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  Français (2008.pdf) - Ann Endocrinol
  
  Deutsch (2008.pdf) - Ann Endocrinol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
  
  English (2023) Bardet-Biedl Syndrome Overview - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Barth syndrome
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  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
- Review article
  English (2013.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Bartsocas-Papas syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Bartter syndrome
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome de Bartter - PNDS
  
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders - Kidney Int
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Bartter syndrome type 1
- Clinical practice guidelines
  English (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders - Kidney Int
Bartter syndrome type 2
- Clinical practice guidelines
  English (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders - Kidney Int
Bartter syndrome type 3
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome de Bartter - PNDS
  
  English (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders - Kidney Int
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Bartter syndrome type 4
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome de Bartter - PNDS
  
  English (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders - Kidney Int
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Bartter syndrome type 5
- Clinical practice guidelines
  Français (2021) Syndrome de Bartter - PNDS
  
  English (2021) Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders - Kidney Int
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Bathing suit ichthyosis
- 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
Becker muscular dystrophy
- Article for general public
  Français (2010) - AFM-Telethon
  
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Dystrophie musculaire de Becker - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2018.pdf) - Eur J Hum Genet
Beckwith-Wiedemann syndrome
- Article for general public
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
  
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to 11p15 microduplication
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to CDKN1C mutation
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to NSD1 mutation
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2023) Beckwith-Wiedemann Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Behavioral variant of frontotemporal dementia
- Article for general public
  Français (2007.pdf) - Orphanet
- Clinical genetics review
  English (2020) GRN-Related Frontotemporal Dementia - GeneReviews
  
  English (2022) MAPT-Related Frontotemporal Dementia - GeneReviews
  
  English (2020) CHMP2B Frontotemporal Dementia - GeneReviews
Behçet disease
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2014) - SNFMI
  
  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 (2017) - 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
- Diagnostic Keys
  Français (2023) Uvéite - Les clés du diagnostic
  
  Français (2022) Arthrite - Les clés du diagnostic
- Emergency guidelines
  Français (2020.pdf) Maladie de Behçet - Orphanet Urgences
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
  
  Português (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2020) Maladie de Behçet - PNDS
  
  English (2021) French recommendations for the management of Behçet's disease - Orphanet J Rare Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Review article
  English (2012) - Orphanet J Rare Dis
Benign epithelial tumor of salivary glands
- Article for general public
  Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
Benign focal seizures of adolescence
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Benign hereditary chorea
- Clinical genetics review
  English (2023) NKX2-1-Related Disorders - GeneReviews
Benign infantile focal epilepsy with midline spikes and waves during sleep
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Benign nocturnal alternating hemiplegia of childhood
- Emergency guidelines
  Français (2017.pdf) Hémiplégie alternante de lenfance - Orphanet Urgences
Benign paroxysmal torticollis of infancy
- Clinical practice guidelines
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
Benign partial infantile seizures
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Benign recurrent intrahepatic cholestasis
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Benign recurrent intrahepatic cholestasis type 1
- Clinical genetics review
  English (2023) Pediatric Genetic Cholestatic Liver Disease Overview - GeneReviews
  
  English (2021) - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Benign recurrent intrahepatic cholestasis type 2
- Article for general public
  Español (2013.pdf) - GT-CSGP
- Clinical genetics review
  English (2023) Pediatric Genetic Cholestatic Liver Disease Overview - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
BENTA disease
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Bernard-Soulier 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
- Review article
  English (2006) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Best vitelliform macular dystrophy
- Article for general public
  Deutsch (2013.pdf) - ACHSE
  
  Español (2016) - GuíaSalud
  
  Svenska (2015) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Maculopathies génétiques - PNDS
  
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2020) - GeneReviews
Beta-ketothiolase deficiency
- Emergency guidelines
  English (2012.pdf) - Brit Inher Metab Dis Group
Beta-propeller 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
  
  English (2017) Beta-Propeller Protein-Associated Neurodegeneration - GeneReviews
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- 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 (2012) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Beta-thalassemia
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Thalassémie - Orphanet Urgences
  
  Español (2017.pdf) Talasemia - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndromes thalassémiques majeurs et intermédiaires - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Beta-Thalassemia - GeneReviews
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Beta-thalassemia and related diseases
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
Beta-thalassemia associated with another hemoglobin anomaly
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Beta-thalassemia intermedia
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Thalassémie - Orphanet Urgences
  
  Español (2017.pdf) Talasemia - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  Deutsch (2022) - AWMF
  
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
  
  Español (2015.pdf) - SEHOP
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Beta-Thalassemia - GeneReviews
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Beta-thalassemia major
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Thalassémie - Orphanet Urgences
  
  Español (2017.pdf) Talasemia - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
  
  Español (2015.pdf) - SEHOP
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Beta-Thalassemia - GeneReviews
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Beta-thalassemia with other manifestations
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
- Disability factsheet
  Français (2020.pdf) - Orphanet
Beta-thalassemia-X-linked thrombocytopenia syndrome
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
  
  English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
- Clinical genetics review
  English (2023) GATA1-Related Cytopenia - GeneReviews
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Bethlem 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
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - 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 (2021) - GeneReviews
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Bickerstaff brainstem encephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Bicornuate uterus
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Biemond syndrome type 2
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Bietti crystalline dystrophy
- Clinical genetics review
  English (2012) - GeneReviews
Bifid uvula
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Bilateral generalized polymicrogyria
- Clinical genetics review
  English (2021) GRIN1-Related Neurodevelopmental Disorder - GeneReviews
Bilateral massive adrenal hemorrhage
- 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
Bilateral multicystic dysplastic kidney
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2020) Maladie liée à HNF-1? - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Bilateral perisylvian polymicrogyria
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Clinical genetics review
  English (2022) PI4KA-Related Disorder - GeneReviews
Bilateral striopallidodentate calcinosis
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Primary Familial Brain Calcification - GeneReviews
Bile acid synthesis defect with cholestasis and malabsorption
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Biotin-thiamine-responsive basal ganglia disease
- Clinical genetics review
  English (2020) - GeneReviews
Biotinidase deficiency
- Emergency guidelines
  English (2023.pdf) Protocol for biotinidase deficiency or holocarboxylase synthetase deficiency - G2M
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Epilepsies vitamino-sensibles - PNDS
- Clinical genetics review
  English (2023) Biotinidase Deficiency - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Birdshot chorioretinopathy
- Review article
  English (2016) Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Birk-Barel syndrome
- Clinical genetics review
  English (2017) KCNK9 Imprinting Syndrome - GeneReviews
Birt-Hogg-Dubé syndrome
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
  
  English (2024) ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome - Eur J Hum Genet
- Clinical genetics review
  English (2020) - GeneReviews
Blau syndrome
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Emergency guidelines
  Français (2020.pdf) Sarcoïdose - Orphanet Urgences
- 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
  
  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
Bleeding diathesis due to a collagen receptor defect
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Bleeding diathesis due to glycoprotein VI deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Bleeding diathesis due to integrin alpha2-beta1 deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Bleeding diathesis due to thromboxane synthesis deficiency
- 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
Bleeding disorder due to CalDAG-GEFI deficiency
- Clinical practice guidelines
  Français (2019) Thrombasthénie de Glanzmann et pathologies plaquettaires apparentées - PNDS
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Bleeding disorder due to P2Y12 defect
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Bleeding disorder in hemophilia A carriers
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia A - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Bleeding disorder in hemophilia B carriers
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia B - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2012) - Eur J Hum Genet
Blepharo-cheilo-odontic syndrome
- Clinical practice guidelines
  Français (2021) Anomalies du développement liées aux variants de CDH1 - PNDS
Blepharophimosis-intellectual disability syndrome, MKB type
- Article for general public
  English (2016.pdf) MED12 Related Disorders - Unique
  
  Nederlands (2016.pdf) MED12-gerelateerde aandoeningen - Unique
- Clinical genetics review
  English (2021) - GeneReviews
Blepharophimosis-intellectual disability syndrome, SBBYS type
- Article for general public
  English (2015.pdf) Say-Barber-Biesecker Syndrome - Unique
  
  Русский (2015.pdf) Say-Barber-Biesecker Syndrome - Unique
  
  Русский (2015.pdf) Say-Barber-Biesecker Syndrome - Unique
- 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
- Clinical genetics review
  English (2020) KAT6B Disorders - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap 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
Blepharophimosis-ptosis-epicanthus inversus syndrome
- Clinical genetics review
  English (2022) - GeneReviews
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Blepharospasm-oromandibular dystonia syndrome
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
Bloom syndrome
- Clinical practice guidelines
  Français (2022) Syndrome de BLOOM - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Clinical genetics review
  English (2023) Bloom Syndrome - GeneReviews
Blue cone monochromatism
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Blue rubber bleb nevus
- Article for general public
  Svenska (2017) - Socialstyrelsen
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Clinical practice guidelines
  Français (2021) Déficits rares en protéines de la coagulation - PNDS
Bohring-Opitz syndrome
- Article for general public
  Français (2017.pdf) CTNNB1 syndrome - Unique
  
  English (2017.pdf) Bohring-Opitz Syndrome (BOS) - Unique
  
  Русский (2017.pdf) Bohring-Opitz syndrome (BOS) - Unique
  
  Italiano (2017.pdf) La sindrome di Bohring-Opitz (BOS) - Unique
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2018) - GeneReviews
Bone sarcoma
- 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
Boomerang dysplasia
- Clinical genetics review
  English (2020) - GeneReviews
BOR syndrome
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Clinical genetics review
  English (2018) - GeneReviews
Borjeson-Forssman-Lehmann syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome Borjeson Forssman Lehmann - PNDS
- Clinical genetics review
  English (2006.pdf) - Eur J Hum Genet
Botulism
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Bowen-Conradi syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Brachydactyly type A1
- Review article
  English (2008) - Orphanet J Rare Dis
Brachydactyly type A2
- Review article
  English (2008) - Orphanet J Rare Dis
Brachydactyly type A4
- Review article
  English (2008) - Orphanet J Rare Dis
Brachydactyly type B
- Review article
  English (2008) - Orphanet J Rare Dis
Brachydactyly type C
- Review article
  English (2008) - Orphanet J Rare Dis
Brachydactyly type E
- Review article
  English (2013) - Orphanet J Rare Dis
Brachydactyly-syndactyly, Zhao type
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Brachyolmia-amelogenesis imperfecta syndrome
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Brachytelephalangic chondrodysplasia punctata
- Article for general public
  Svenska (2015) - Socialstyrelsen
  
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Chondrodysplasies ponctuées : déficit de la biosynthèse du cholestérol et déficit en arylsulfatase E. - PNDS
- Clinical genetics review
  English (2020) Chondrodysplasia Punctata 1, X-Linked - GeneReviews
Braddock syndrome
- Clinical practice guidelines
  English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
Brain dopamine-serotonin vesicular transport disease
- Review article
  English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
Brain-lung-thyroid syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  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
- Clinical genetics review
  English (2023) NKX2-1-Related Disorders - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Branchio-oculo-facial syndrome
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2023) Branchiooculofacial Syndrome - GeneReviews
BRESEK syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Brittle cornea 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
Bronchopulmonary dysplasia
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Syndrome du grêle court de lenfant - PNDS
  
  English (2020) European Respiratory Society guideline on long-term management of children with bronchopulmonary dysplasia - Eur Respir J
Brooke-Spiegler syndrome
- Clinical genetics review
  English (2020) CYLD Cutaneous Syndrome - GeneReviews
Bruck 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
Brugada syndrome
- Emergency guidelines
  Français (2021.pdf) Syndrome de Brugada - Orphanet Urgences
  
  Deutsch (2014.pdf) Brugada-Syndrom - Orphanet Urgences
  
  Italiano (2011.pdf) Sindrome di Brugada - Orphanet Urgences
  
  Português (2009.pdf) Síndrome de Brugada - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Brugada - 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 (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Brugada Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Budd-Chiari syndrome
- Clinical practice guidelines
  Français (2019) Syndrome de Budd-Chiari - PNDS
  
  English (2021) Vascular Liver Disorders, Portal Vein Thrombosis, and Procedural Bleeding in Patients With Liver Disease: 2020 Practice Guidance by the American Association for the Study of Liver Diseases - Hepatology
  
  English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
- Review article
  English (2008) Budd-Chiari syndrome - Semin Liver Dis
Buerger disease
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2006) - Orphanet J Rare Dis
Bulbospinal muscular atrophy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Bulbospinal muscular atrophy of adult
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Bulbospinal muscular atrophy of childhood
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Bullous diffuse cutaneous mastocytosis
- Article for general public
  Svenska (2016) - Socialstyrelsen
- 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
Bullous pemphigoid
- Article for general public
  Français (2008.pdf) - Orphanet
- Emergency guidelines
  Français (2022.pdf) Pemphigoïde bulleuse - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
  
  Português (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Pemphigoïde bulleuse - PNDS
  
  Deutsch (2019) - AWMF
  
  English (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
  
  English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
  
  English (2015) Management of bullous pemphigoid: the European Dermatology Forum consensus in collaboration with the European Academy of Dermatology and Venereology - Br J Dermatol
Bullous pyoderma gangrenosum
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Burkitt lymphoma
- Clinical practice guidelines
  English (2025) Diagnosis and treatment of Burkitt lymphoma in adults: clinical practice guidelines from ERN-EuroBloodNet - Lancet Haematol
- Review article
  English (2021) The treatment of Burkitt lymphoma in adults - Blood
Burn-McKeown syndrome
- Clinical genetics review
  English (2022) TXNL4A-Related Craniofacial Disorders - GeneReviews
Butterfly-shaped pigment dystrophy
- Clinical practice guidelines
  Français (2021) Maculopathies génétiques - PNDS
BVES-related limb-girdle muscular dystrophy
- 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

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