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H syndrome
- Review article
  English (2013) - Orphanet J Rare Dis
Haddad syndrome
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical genetics review
  English (2021) Congenital Central Hypoventilation Syndrome - GeneReviews
Hailey-Hailey disease
- Clinical practice guidelines
  Français (2018) Maladies bulleuses auto-immunes : Pemphigus - PNDS
Hairy cell leukemia variant
- Article for general public
  Deutsch (2010.pdf) - ACHSE
- Clinical practice guidelines
  English (2021) The revised guidelines for the diagnosis and management of hairy cell leukaemia and the hairy cell leukaemia variant - Br J Haematol
Hajdu-Cheney syndrome
- Review article
  English (2014) - Orphanet J Rare Dis
Hallermann-Streiff syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
Hallermann-Streiff-like syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
HANAC syndrome
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Clinical genetics review
  English (2016) - GeneReviews
Hand-foot-genital syndrome
- Clinical genetics review
  English (2019) - GeneReviews
Hantavirus pulmonary syndrome
- Article for general public
  Français (2012) - Minist Santé et Prévention
Harlequin ichthyosis
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- 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
Hartsfield syndrome
- Clinical genetics review
  English (2022) - GeneReviews
Hb Bart's hydrops fetalis
- Article for general public
  Svenska (2018) - Socialstyrelsen
- 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Heart position anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Heart-hand syndrome, Slovenian type
- Clinical practice guidelines
  Français (2022) Laminopathies avec présentation cardiaque - PNDS
Heiner syndrome
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
HELLP syndrome
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Hemi-myelomeningocele
- Article for general public
  Svenska (2022) - Socialstyrelsen
- 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
Hemi-myeloschisis
- Clinical practice guidelines
  Français (2021) Spina Bifida Dysraphismes - Gestion du handicap intestinal - PNDS
  
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
  
  Français (2015) Prise en charge en médecine physique et de réadaptation du patient atteint de Spina Bifida - PNDS
Hemiconvulsion-hemiplegia-epilepsy syndrome
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Hemidystonia-hemiatrophy syndrome
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  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
Hemihyperplasia-multiple lipomatosis syndrome
- Clinical genetics review
  English (2023) PIK3CA-Related Segmental Overgrowth - GeneReviews
Hemimegalencephaly
- Clinical genetics review
  English (2023) PIK3CA-Related Overgrowth Spectrum - GeneReviews
Hemoglobin C disease
- 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
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin C-beta-thalassemia 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
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin D disease
- 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
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin E disease
- 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
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin E-beta-thalassemia 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
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin H disease
- 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin Lepore-beta-thalassemia 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
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin M disease
- 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
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin S-C disease
- Article for general public
  Deutsch (2010) - Onkopedia
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Deutsch (2020) - 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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin S-D Punjab disease
- Article for general public
  Deutsch (2010) - Onkopedia
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Deutsch (2020) - 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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobin S-E disease
- Article for general public
  Deutsch (2010) - Onkopedia
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Deutsch (2020) - 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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemoglobinopathy
- 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
Hemoglobinopathy Toms River
- 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
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemolytic anemia due to a disorder of glycolytic enzymes
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hemolytic anemia due to adenylate kinase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hemolytic anemia due to diphosphoglycerate mutase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hemolytic anemia due to glucophosphate isomerase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemolytic anemia due to glutathione reductase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hemolytic anemia due to red cell pyruvate kinase deficiency
- Clinical practice guidelines
  English (2024) Diagnosis and management of pyruvate kinase deficiency: international expert guidelines - Lancet Haematol
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2019) Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency - Am J Hematol
- Review article
  English (2015) Erythrocyte pyruvate kinase deficiency: 2015 status report - Am J Hematol
Hemolytic uremic syndrome
- Clinical practice guidelines
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Deutsch (2022) - AWMF
Hemolytic uremic syndrome with DGKE deficiency
- Clinical practice guidelines
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Clinical genetics review
  English (2021) - GeneReviews
Hemophagocytic syndrome
- Article for general public
  Deutsch (2009.pdf) - Centrum für Chronische Immundefizienz
- Review article
  Deutsch (2020) - Onkopedia
Hemophagocytic syndrome associated with an infection
- Review article
  Deutsch (2020) - Onkopedia
Hemophilia
- 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 (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
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
Hemophilia A
- 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 (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Hemophilia B
- 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 (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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2012) - Eur J Hum Genet
Hemophilia B Leyden
- 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 (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Hemorrhagic fever-renal syndrome
- Clinical practice guidelines
  Deutsch (2018) - AWMF
Hendra virus infection
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Hennekam syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Deutsch (2017) - 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
Heparin-induced thrombocytopenia
- Clinical practice guidelines
  English (2012) Guidelines on the diagnosis and management of heparin-induced thrombocytopenia: second edition - Br J Haematol
Hepatic cystic hamartoma
- Clinical practice guidelines
  English (2022) EASL Clinical Practice Guidelines on the management of cystic liver diseases - J Hepatol
- Review article
  English (2014) - Orphanet J Rare Dis
Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Hepatic veno-occlusive 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
Hepatic veno-occlusive disease-immunodeficiency syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
  
  English (2021) Vascular Liver Disorders, Portal Vein Thrombosis, and Procedural Bleeding in Patients With Liver Disease: 2020 Practice Guidance by the American Association for the Study of Liver Diseases - Hepatology
  
  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 (2017) Hepatic Veno-Occlusive Disease with Immunodeficiency - GeneReviews
Hepatoblastoma
- Clinical practice guidelines
  Deutsch (2016) - AWMF
Hepatocellular carcinoma
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
  
  English (2022) AGA Clinical Practice Guideline on Systemic Therapy for Hepatocellular Carcinoma - Gastroenterology
  
  English (2018) Diagnosis, Staging, and Management of Hepatocellular Carcinoma: 2018 Practice Guidance by the American Association for the Study of Liver Diseases - Hepatology
  
  Español (2021) Diagnóstico y tratamiento del carcinoma hepatocelular. Actualización del documento de consenso de la AEEH, AEC, SEOM, SERAM, SERVEI y SETH - Med Clin (Barc)
Hepatoerythropoietic porphyria
- Emergency guidelines
  Français (2016.pdf) Porphyries cutanées tardives - Orphanet Urgences
  
  Polski (2016.pdf) Porfirie skorne - Orphanet Urgences
  
  English (2007.pdf) Cutaneous porphyrias - Orphanet Urgences
  
  Español (2007.pdf) Porfirias cutáneas - Orphanet Urgences
  
  Italiano (2007.pdf) Porfirie cutanee - Orphanet Urgences
  
  Português (2007.pdf) Porfiria cutâneas - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical genetics review
  English (2022) Hepatoerythropoietic Porphyria - GeneReviews
Hepatoportal sclerosis
- Review article
  English (2015) - Orphanet J Rare Dis
Hepatosplenic T-cell lymphoma
- Review article
  English (2012.pdf) - Blood Cancer J
Hereditary amyloidosis with primary renal involvement
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Hereditary angioedema
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Angidème bradykinique - Orphanet Urgences
  
  Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - 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
- Clinical practice guidelines
  Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
  
  Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
  
  English (2019) The International/Canadian Hereditary Angioedema Guideline - Allergy Asthma Clin Immunol
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
- Review article
  English (2012) Hereditary angio-oedema - Lancet
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary angioedema type 1
- Article for general public
  Svenska (2022) - Socialstyrelsen
- 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
- Clinical practice guidelines
  Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
  
  Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
  
  English (2010) 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema - Allergy Asthma Clin Immunol
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
- Review article
  English (2012) Hereditary angio-oedema - Lancet
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary angioedema type 2
- Article for general public
  Svenska (2022) - Socialstyrelsen
- 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
- Clinical practice guidelines
  Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
  
  Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
  
  English (2010) 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema - Allergy Asthma Clin Immunol
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
- Review article
  English (2012) Hereditary angio-oedema - Lancet
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary angioedema with C1Inh deficiency
- 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
  
  Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
  
  Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
  
  Deutsch (2018) - AWMF
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary angioedema with normal C1Inh
- 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
- Clinical practice guidelines
  Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
  
  Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
- Clinical practice guidelines
  Français (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
  
  Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
Hereditary arginine vasopressin deficiency
- Emergency guidelines
  Français (2017.pdf) Diabète insipide dorigine centrale - Orphanet Urgences
  
  Español (2017.pdf) Diabetes insípida central - Orphanet Urgences
Hereditary 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
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Hereditary ATTR amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2022) Neuropathie amyloïde héréditaire à transthyrétine (NAH-TTR) - PNDS
  
  Français (2021) Amylose cardiaque - PNDS
  
  English (2013) Guideline of transthyretin-related hereditary amyloidosis for clinicians - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary breast and/or ovarian cancer syndrome
- Article for general public
  Français (2013) - INCa
- Clinical genetics review
  English (2024) EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer - Eur J Hum Genet
  
  English (2023) BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer - GeneReviews
Hereditary breast cancer
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
- Review article
  English (2018) - Onkopedia
Hereditary chronic pancreatitis
- Emergency guidelines
  Français (2019.pdf) Pancréatite chronique héréditaire - Orphanet Urgences
  
  Español (2019.pdf) Pancreatitis crónica hereditaria - Orphanet Urgences
- Clinical practice guidelines
  Français (2020) Pancréatite Chronique Héréditaire - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2022) ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria - J Cyst Fibros
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Pancreatitis Overview - GeneReviews
  
  English (2019) PRSS1-Related Hereditary Pancreatitis - GeneReviews
Hereditary clear cell renal cell carcinoma
- Clinical practice guidelines
  Français (2010) - ALD
Hereditary combined deficiency of vitamin K-dependent clotting factors
- Article for general public
  Français (2009.pdf) - World Federation of Hemophilia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2021) Déficits rares en protéines de la coagulation - PNDS
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Hereditary coproporphyria
- Article for general public
  Svenska (2023) Akuta hepatiska porfyrier - Socialstyrelsen
- Emergency guidelines
  Français (2022) Crise de porphyrie hépatique aiguë (Porphyrie aiguë intermittente, porphyrie variegata, coproporphyrie héréditaire) - G2M
  
  Français (2016.pdf) Porphyrie hépatique aiguë - Orphanet Urgences
  
  Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
  
  English (2007.pdf) Acute hepatic porphyria neuro-visceral crisis - Orphanet Urgences
  
  Español (2007.pdf) Porfirias hepáticas agudas - Orphanet Urgences
  
  Italiano (2016.pdf) Porfiria epatica acuta - Orphanet Urgences
  
  Italiano (2007.pdf) Porfirie acute epatiche - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical genetics review
  English (2022) Hereditary Coproporphyria - GeneReviews
Hereditary cryohydrocytosis with normal stomatin
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hereditary cryohydrocytosis with reduced stomatin
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hereditary dentin defect
- Review article
  English (2008) - Orphanet J Rare Dis
Hereditary diffuse gastric cancer
- Article for general public
  Français (2014) - INCa
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
  
  English (2020) Hereditary diffuse gastric cancer: updated clinical practice guidelines - Lancet Oncol
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Hereditary elliptocytosis
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hereditary episodic 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
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2015) - Eur J Hum Genet
Hereditary folate malabsorption
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
- Clinical genetics review
  English (2022) - GeneReviews
Hereditary fructose intolerance
- Article for general public
  Svenska (2023) Hereditär fruktosintolerans - Socialstyrelsen
- Emergency guidelines
  Français (2023) Insuffisance hépatique néonatale - G2M
  
  Français (2022) Intolérance Héréditaire au Fructose (Fructosémie) - G2M
  
  English (2023.pdf) Rhabdomyolysis protocol for A&E (new patient) - G2M
  
  English (2022.pdf) Fructosaemia (hereditary fructose intolerance) - G2M
  
  English (2022.pdf) Recurring severe rhabdomyolysis with no diagnosis - G2M
- Clinical genetics review
  English (2021) - GeneReviews
Hereditary gastric cancer
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
Hereditary gingival fibromatosis
- Review article
  English (2016) Gingival fibromatosis: clinical, molecular and therapeutic issues - Orphanet J Rare Dis
Hereditary hemorrhagic telangiectasia
- Article for general public
  Français (2019.pdf) - Fondation Groupama
  
  Deutsch (2021) - ÄZQ
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2024.pdf) Télangiectasie hémorragique héréditaire - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Maladie de Rendu-Osler - PNDS
  
  Français (2018) Maladie de Rendu-Osler - PNDS
  
  Français (2018) Atteintes hépatiques au cours de la maladie de Rendu-Osler - PNDS
  
  English (2011) International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia - J Med Genet
  
  English (2020) Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia - Ann Intern Med
  
  English (2006) Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations - Liver Int
  
  English (2019) Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination - Haematologica
  
  English (2019) Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia - Orphanet J Rare Dis
  
  English (2022) European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? - Eur J Med Genet
  
  English (2016) EASL Clinical Practice Guidelines: Vascular diseases of the liver - J Hepatol
  
  English (2021) Vascular Liver Disorders, Portal Vein Thrombosis, and Procedural Bleeding in Patients With Liver Disease: 2020 Practice Guidance by the American Association for the Study of Liver Diseases - Hepatology
  
  English (2018) European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT) - Orphanet J Rare Dis
  
  English (2020) European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT) - Orphanet J Rare Dis
  
  English (2021) The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care - Eur J Med Genet
  
  English (2019) Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia - Orphanet J Rare Dis
- Review article
  Français (2009.pdf) - Rev Praticien
  
  Deutsch (2024) Hereditäre hämorrhagische Teleangiektasie - Dtsch Arztebl Int
  
  English (2020) - Orphanet J Rare Dis
  
  English (2024) Hereditary Hemorrhagic Telangiectasia - Dtsch Arztebl Int
  
  English (2025) Hereditary hemorrhagic telangiectasia - Nat Rev Dis Primers
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2021) - GeneReviews
- Diagnostic criteria
  English (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - Am J Med Genet
- Disability factsheet
  Français (2019.pdf) - Orphanet
Hereditary hyperekplexia
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
- Clinical genetics review
  English (2019) - GeneReviews
Hereditary hypophosphatemic rickets with hypercalciuria
- Clinical practice guidelines
  Français (2018) Hypophosphatémies héréditaires à FGF23 élevé (dont hypophosphatémies liées à lx) - PNDS
- 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
Hereditary inclusion body myopathy type 4
- Clinical practice guidelines
  Français (2021) Myosite à inclusions sporadique - PNDS
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
- Clinical practice guidelines
  Français (2021) Myosite à inclusions sporadique - PNDS
Hereditary isolated aplastic anemia
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- 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
Hereditary late-onset Parkinson disease
- Clinical genetics review
  English (2023) VPS35-Related Parkinson Disease - GeneReviews
  
  English (2023) LRRK2 Parkinson Disease - GeneReviews
  
  English (2019) Parkinson Disease Overview - GeneReviews
Hereditary leiomyomatosis and renal cell cancer
- Clinical genetics review
  English (2020) FH Tumor Predisposition Syndrome - GeneReviews
Hereditary methemoglobinemia
- Clinical practice guidelines
  English (2021) Recommendations for diagnosis and treatment of methemoglobinemia - Am J Hematol
  
  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
Hereditary mixed polyposis syndrome
- Review article
  English (2014) - Orphanet J Rare Dis
Hereditary motor and sensory neuropathy type 5
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary motor and sensory neuropathy type 6
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary motor and sensory neuropathy with acrodystrophy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary motor and sensory neuropathy, Okinawa type
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary myopathy with early respiratory failure
- Clinical practice guidelines
  Français (2021) Myosite à inclusions sporadique - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Hereditary myopathy with lactic acidosis due to ISCU deficiency
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical genetics review
  English (2016) - GeneReviews
Hereditary neuropathy with liability to pressure palsies
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Hereditary nonpolyposis colon cancer
- Clinical practice guidelines
  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
  
  English (2020) Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) - Gut
Hereditary North American Indian childhood cirrhosis
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Hereditary periodic fever syndrome
- Article for general public
  Français (2012.pdf) - Fondation Groupama
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary persistence of fetal hemoglobin-beta-thalassemia 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
- Disability factsheet
  Français (2020.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hereditary persistence of fetal hemoglobin-intellectual disability 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
- Clinical genetics review
  English (2019) BCL11A-Related Intellectual Disability - GeneReviews
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- Article for general public
  Deutsch (2010) - Onkopedia
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Deutsch (2020) - 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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hereditary pheochromocytoma-paraganglioma
- Article for general public
  English (2011) - PDQ Cancer Inf Sum
- Emergency guidelines
  Français (2023.pdf) Phéochromocytomes et paragangliomes fonctionnels - Orphanet Urgences
  
  Español (2024.pdf) Feocromocitomas y paragangliomas funcionantes - Orphanet Urgences
- Anesthesia guidelines
  English (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
  
  Español (2016) Recomendaciones para la anestesia de pacientes con paraganglioma y feocromocitoma - Orphananesthesia
  
  Čeština (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Recommandations du réseau national ENDOCAN-COMETE pour la prise en charge des phéochromocytomes et paragangliomes métastatiques - Bull Cancer
  
  Français (2021) Phéochromocytomes et Paragangliomes - PNDS
  
  English (2016) European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma - Eur J Endocrinol
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline - J Clin Endocrinol Metab
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Paraganglioma-Pheochromocytoma Syndromes - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Hereditary pulmonary alveolar proteinosis
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - 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
Hereditary renal hypouricemia
- Clinical practice guidelines
  Français (2021) Lithiase urinaire de lenfant - PNDS
Hereditary retinoblastoma
- Article for general public
  Français (2005.pdf) - Institut Curie
  
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2009.pdf) - Canadian Journal of Ophthalmology.
  
  English (2009) National Retinoblastoma Strategy Canadian Guidelines for Care: Stratégie thérapeutique du rétinoblastome guide clinique canadien - Can J Ophthalmol
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Retinoblastoma - GeneReviews
- Disability factsheet
  Français (2016.pdf) - Orphanet
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Hereditary sensorimotor neuropathy with hyperelastic skin
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary sensory and autonomic neuropathy
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2022) TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability - GeneReviews
  
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Hereditary sensory and autonomic neuropathy type 1
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Hereditary sensory and autonomic neuropathy type 1B
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Hereditary sensory and autonomic neuropathy type 2
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Hereditary Sensory and Autonomic Neuropathy Type II - GeneReviews
Hereditary sensory and autonomic neuropathy type 4
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Congenital Insensitivity to Pain Overview - Initial Posting: February 8, 2018; Last Revision: June 11, 2020.
  
  English (2020) NTRK1 Congenital Insensitivity to Pain with Anhidrosis - GeneReviews
Hereditary sensory and autonomic neuropathy type 5
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical genetics review
  English (2018) - GeneReviews
Hereditary sensory and autonomic neuropathy type 6
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Hereditary sensory and autonomic neuropathy type 7
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2020) Congenital Insensitivity to Pain Overview - GeneReviews
Hereditary sensory and autonomic neuropathy type 8
- Clinical genetics review
  English (2020) Congenital Insensitivity to Pain Overview - GeneReviews
Hereditary sensory and autonomic neuropathy with deafness and global delay
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Hereditary sensory neuropathy-deafness-dementia syndrome
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2019) - GeneReviews
Hereditary sick sinus syndrome
- 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
Hereditary sodium channelopathy-related small fibers neuropathy
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Clinical genetics review
  English (2020) SCN9A Neuropathic Pain Syndromes - GeneReviews
Hereditary spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Français (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
  
  Dansk (2018) - Sjaeldne Diagnoser
Hereditary spherocytosis
- Article for general public
  Français (2007.pdf) - Orphanet
- Clinical practice guidelines
  Français (2021) Sphérocytose héréditaire et autres anémies hémolytiques par anomalie de la membrane érythrocytaire - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2012) Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update - Br J Haematol
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2012) - Onkopedia
- Clinical genetics review
  English (2022) EPB42-Related Hereditary Spherocytosis - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Hereditary steroid-resistant nephrotic syndrome
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Deutsch (2016.pdf) - ÄZQ
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2021) Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group - Nat Rev Nephrol
  
  English (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol
  
  English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis
  
  English (2020) Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group - Eur J Hum Genet
- Clinical genetics review
  English (2021) WT1 Disorder - GeneReviews
  
  English (2021) - GeneReviews
Hereditary stomatocytosis
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
Hereditary thermosensitive neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hereditary thrombocytopenia with early-onset myelofibrosis
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Hereditary thrombocytopenia with normal platelets
- 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
Hereditary xanthinuria
- Clinical practice guidelines
  Français (2021) Lithiase urinaire de lenfant - PNDS
Heritable pulmonary arterial hypertension
- Article for general public
  Français (2022) - ELF
  
  Polski (2022) - ELF
  
  Deutsch (2022) - ELF
  
  Українська (2021.pdf) - ELF
  
  Ελληνικά (2022) - ELF
  
  English (2023) - ELF
  
  Español (2022) - ELF
  
  Svenska (2022) - Socialstyrelsen
  
  Русский (2022) - ELF
  
  Italiano (2022) - ELF
- Clinical practice guidelines
  Français (2020) Hypertension artérielle pulmonaire - PNDS
  
  Deutsch (2020) - AWMF
  
  English (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
  
  English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
  
  English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
  
  English (2016) 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT) - Eur Heart J
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hermansky-Pudlak syndrome
- Article for general public
  Español (2018) - ALBA
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- 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
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Hermansky-Pudlak Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hermansky-Pudlak syndrome due to AP-3 deficiency
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Review article
  Deutsch (2020) - Onkopedia
  
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hermansky-Pudlak Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hermansky-Pudlak syndrome due to AP3B1 deficiency
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- 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
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hermansky-Pudlak Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- 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
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Hermansky-Pudlak Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Clinical genetics review
  English (2023) Hermansky-Pudlak Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Herpes simplex virus encephalitis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Deutsch (2018) - 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
Herpetiform pemphigus
- Clinical practice guidelines
  Français (2018) Maladies bulleuses auto-immunes : Pemphigus - PNDS
  
  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
Heterotaxia
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
HHV-8-associated multicentric Castleman disease
- Review article
  English (2018) Novel insights and therapeutic approaches in idiopathic multicentric Castleman disease - Hematology Am Soc Hematol Educ Program
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hidrotic ectodermal dysplasia
- Clinical genetics review
  English (2020) - GeneReviews
High altitude pulmonary edema
- Review article
  English (2022) High Altitude Pulmonary Edema - StatPearls
High bone mass osteogenesis imperfecta
- Clinical genetics review
  English (2021) COL1A1/2 Osteogenesis Imperfecta - GeneReviews
High myopia-sensorineural deafness syndrome
- Clinical genetics review
  English (2017) Deafness and Myopia Syndrome - GeneReviews
High-grade astrocytoma
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2011.pdf) - BNOS
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
High-grade neuroendocrine carcinoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
- Clinical practice guidelines
  Deutsch (2021) - AWMF
High-grade neuroendocrine carcinoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Hirschsprung disease
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
- Clinical practice guidelines
  Deutsch (2016) - AWMF
  
  English (2024) Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis - J Pediatr Surg
  
  English (2020) ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease - Orphanet J Rare Dis
- Clinical genetics review
  English (2015) - GeneReviews
His bundle tachycardia
- Clinical practice guidelines
  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
Histiocytoid cardiomyopathy
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
HJV or HAMP-related 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 (2020) - GeneReviews
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
HNF1B-related autosomal dominant tubulointerstitial kidney disease
- Clinical practice guidelines
  Français (2020) Maladie liée à HNF-1? - PNDS
HNRNPDL-related limb-girdle muscular dystrophy D3
- 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
Hodgkin lymphoma
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2012) - INCa
  
  Deutsch (2018) - AWMF
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2012) Hodgkin's lymphoma in adults - Lancet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Holocarboxylase synthetase deficiency
- Emergency guidelines
  Français (2022) Déficit en biotinidase / holocarboxylase synthétase - G2M
- Clinical practice guidelines
  Français (2022) Epilepsies vitamino-sensibles - PNDS
Holoprosencephaly
- Clinical practice guidelines
  Français (2018) Holoprosencephalie (HPE) et formes apparentées - PNDS
  
  Français (2018) Holoprosencephalie (HPE) et formes apparentées - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
  
  English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Holoprosencephaly-radial heart renal anomalies syndrome
- Anesthesia guidelines
  Čeština (2013) - Orphananesthesia
Holt-Oram syndrome
- Article for general public
  Deutsch (2015.pdf) - BVHK
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
Homocystinuria due to cystathionine beta-synthase deficiency
- Article for general public
  English (2013) - EHOD
  
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2022) Homocystinurie-prise en charge grossesse - G2M
  
  Français (2022) Homocystinurie - G2M
  
  Français (2007.pdf) Homocystinurie classique - Orphanet Urgences
  
  Polski (2007.pdf) Homocystynuria klasyczna - Orphanet Urgences
  
  Deutsch (2007.pdf) Klassische Homocystinurie - Orphanet Urgences
  
  English (2007.pdf) Classic Homocystinuria - Orphanet Urgences
  
  English (2022.pdf) Recurring severe rhabdomyolysis with no diagnosis - G2M
  
  English (2024.pdf) Rhabdomyolysis protocol for A&E (new patient) - G2M
  
  English (2022.pdf) Recurring mild rhabdomyolysis with no diagnosis - G2M
  
  Español (2007.pdf) Homosistinuria clásica - Orphanet Urgences
  
  Italiano (2007.pdf) Omocistinuria classica - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Homocystinurie par déficit en cytathionine-bêta-synthase (CBS) - PNDS
  
  English (2017) Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency - J Inherit Metab Dis
- Clinical genetics review
  English (2017) - GeneReviews
Homozygous familial hypercholesterolemia
- Clinical practice guidelines
  Deutsch (2015) - AWMF
  
  English (2024) Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolemia: an expert consensus statement from ERKNet and ESPN - Atherosclerosis
  
  English (2014) Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society - Eur Heart J
- Review article
  English (2015) Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment - Eur Heart J
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Hot water reflex epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Hoyeraal-Hreidarsson 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
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
HSD10 disease
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
HSD10 disease, infantile type
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
HSD10 disease, neonatal type
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
Hughes-Stovin syndrome
- Review article
  English (2011) - Orphanet J Rare Dis
Huntington disease
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2017.pdf) Maladie de Huntington - Orphanet Urgences
  
  Deutsch (2008.pdf) Huntington-Krankheit - Orphanet Urgences
  
  Español (2017.pdf) Enfermedad de Huntington - Orphanet Urgences
  
  Italiano (2008.pdf) Malattia di Huntington - Orphanet Urgences
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Maladie de Huntington - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2019) International Guidelines for the Treatment of Huntington's Disease - Front Neurol
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Disability factsheet
  Français (2017.pdf) - Orphanet
  
  Dansk (2018) - Sjaeldne Diagnoser
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Huntington disease-like 1
- Clinical genetics review
  English (2021) - GeneReviews
Huntington disease-like 2
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) - GeneReviews
Hurler syndrome
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2015) - Orphananesthesia
  
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2021) Mucopolysaccharidosis Type I - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hurler-Scheie syndrome
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hutchinson-Gilford progeria syndrome
- Clinical genetics review
  English (2023) Hutchinson-Gilford Progeria Syndrome - GeneReviews
Hyaline fibromatosis syndrome
- Clinical genetics review
  English (2023) Hyalinosis, Inherited Systemic - GeneReviews
Hyaluronidase deficiency
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2013.pdf) - FPD RD unit
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Hydatidiform mole
- Clinical practice guidelines
  Français (2010) - INCa
  
  Deutsch (2022) - AWMF
  
  English (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
Hydroa vacciniforme-like lymphoma
- Review article
  English (2012.pdf) - Blood Cancer J
Hydrocephalus with stenosis of the aqueduct of Sylvius
- Clinical genetics review
  English (2021) - GeneReviews
Hydrocephalus-obesity-hypogonadism syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hyper-IgE syndrome
- Article for general public
  Deutsch (2009.pdf) - Centrum für Chronische Immundefizienz
  
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
- Review article
  English (2011) - Orphanet J Rare Dis
Hyper-IgM syndrome type 2
- 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
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
Hyper-IgM syndrome type 3
- 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
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
Hyper-IgM syndrome type 4
- 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
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
Hyper-IgM syndrome type 5
- 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
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
Hyper-IgM syndrome with susceptibility to opportunistic infections
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Hyper-IgM syndrome without susceptibility to opportunistic infections
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Hyperammonemia due to N-acetylglutamate synthase deficiency
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Review article
  English (2020) - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) - GeneReviews
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023) Hyperammoniémie - G2M
  
  Français (2022) Déficit en Anhydrase carbonique - G2M
  
  English (2023.pdf) Hyperammonaemia protocol (new patient) - G2M
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Hypercontractile muscle stiffness syndrome
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Hypereosinophilic syndrome
- Article for general public
  Français (2014) - SNFMI
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Emergency guidelines
  Français (2018.pdf) Syndromes hyperéosinophiliques - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Hyperéosinophilies et Syndromes Hyperéosinophiliques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
- Review article
  Deutsch (2014) - Onkopedia
  
  English (2015) World Health Organization-defined eosinophilic disorders: 2015 update on diagnosis, risk stratification, and management - Am J Hematol
Hypergonadotropic hypogonadism-cataract syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hyperimmunoglobulinemia D with periodic fever
- Article for general public
  Français (2012.pdf) - Fondation Groupama
- Clinical practice guidelines
  Français (2015) Déficit en mévalonate kinase (MKD) - 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
  Français (2008) - Médecine thérapeutique / Pédiatrie
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Hyperinsulinism due to HNF1A deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Hyperinsulinism due to INSR deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
Hyperinsulinism due to UCP2 deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Hyperinsulinism-hyperammonemia syndrome
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
Hyperkalemic periodic paralysis
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Hypermobile Ehlers-Danlos syndrome
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Review article
  English (2015) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome - Eur J Hum Genet
Hyperostosis corticalis generalisata
- Clinical genetics review
  English (2019) SOST-Related Sclerosing Bone Dysplasias - GeneReviews
Hyperparathyroidism-jaw tumor syndrome
- Clinical practice guidelines
  Deutsch (2016) - AWMF
- Clinical genetics review
  English (2023) CDC73-Related Disorders - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
- Clinical practice guidelines
  English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
  
  English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
Hypersensitivity pneumonitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2020) Diagnosis of Hypersensitivity Pneumonitis in Adults. An Official ATS/JRS/ALAT Clinical Practice Guideline - Am J Respir Crit Care Med
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Review article
  English (2006) - Orphanet J Rare Dis
Hypertelorism-hypospadias-polysyndactyly syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypertrophic or verrucous lupus erythematosus
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- Clinical practice guidelines
  English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
Hypobetalipoproteinemia
- Clinical practice guidelines
  Français (2021) Hypocholestérolémies génétiques intestinales - PNDS
Hypocalcemic rickets
- 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
Hypocalcemic vitamin D-dependent rickets
- Clinical practice guidelines
  Français (2024) Rachitismes rares vitamine D-dépendants - PNDS
- 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
Hypocalcemic vitamin D-resistant rickets
- 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
Hypocalcified amelogenesis imperfecta
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Hypochondrogenesis
- Clinical genetics review
  English (2019) - GeneReviews
Hypochondroplasia
- Clinical genetics review
  English (2020) - GeneReviews
Hypoglossia-hypodactyly syndrome
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypohidrotic ectodermal dysplasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Dysplasie Ectodermique Anhidrotique - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Hypohidrotic ectodermal dysplasia with immunodeficiency
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2019) Dysplasie Ectodermique Anhidrotique - 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
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia 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
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypokalemic periodic paralysis
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Paralysie périodique hypokaliémique - Orphanet Urgences
  
  Español (2022.pdf) Parálisis periódica hipopotasémica - Orphanet Urgences
  
  Italiano (2011.pdf) Paralisi periodica ipokaliemica - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2018) - GeneReviews
Hypomandibular faciocranial dysostosis
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Hypomaturation amelogenesis imperfecta
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2017) POLR3-Related Leukodystrophy - GeneReviews
Hypomyelination neuropathy-arthrogryposis syndrome
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
Hypomyelination of early myelinating structures
- 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
Hypomyelination with atrophy of basal ganglia and cerebellum
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2016) - GeneReviews
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
- Clinical genetics review
  English (2017) POLR3-Related Leukodystrophy - GeneReviews
Hypomyelination-congenital cataract syndrome
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2021) - GeneReviews
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- Article for general public
  Deutsch (2015.pdf) - ACHSE
- Review article
  Français (2009.pdf) - Ann Endocrinol
  
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2017) POLR3-Related Leukodystrophy - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypophosphatasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Hypophosphatasie - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Hypophosphatasie - PNDS
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hypophosphatasia - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Hypophosphatemic rickets
- 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
Hypopigmentation of the skin
- Article for general public
  Svenska (2021) - Socialstyrelsen
Hypoplasia of the mitral valve annulus
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Hypoplastic amelogenesis imperfecta
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Hypoplastic left heart syndrome
- Article for general public
  Deutsch (2022) - BVHK
- Anesthesia guidelines
  English (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2022) - AWMF
- Review article
  English (2007) - Orphanet J Rare Dis
Hypoplastic right heart syndrome
- Clinical practice guidelines
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- 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
Hypothyroidism due to TSH receptor mutations
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Hypotonia-cystinuria syndrome
- Review article
  English (2012) - Orphanet J Rare Dis
Hypotonia-speech impairment-severe cognitive delay syndrome
- Clinical genetics review
  English (2023) UNC80 Deficiency - GeneReviews
Hypotrichosis with juvenile macular degeneration
- Article for general public
  Deutsch (2016.pdf) - Kern-ACHSE
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- Clinical practice guidelines
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
- Review article
  English (2007) - Orphanet J Rare Dis
Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Review article
  English (2007) - Orphanet J Rare Dis

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