Orphanet : Diseases

Article for general public
Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND

Polski (2021.pdf) Ataxia: What's that? - ERN-RND

Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND

English (2021.pdf) Ataxia: What's that? - ERN-RND

Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND

Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND

Svenska (2021) - Socialstyrelsen

Čeština (2021.pdf) Ataxia: What's that? - ERN-RND

Magyar (2021.pdf) Ataxia: mi az? - ERN-RND

Italiano (2021.pdf) Atassia: cos'è? - ERN-RND

Português (2021.pdf) Ataxia: O que é isso? - ERN-RND

Clinical practice guidelines
Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND

Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND

English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND

Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND

Review article
English (2011) - Orphanet J Rare Dis
Clinical genetics review
English (2022) Hereditary Ataxia Overview - GeneReviews

English (2023) DRPLA - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Dentin dysplasia

Review article
English (2008) - Orphanet J Rare Dis

Dentinogenesis imperfecta

Review article
English (2008) - Orphanet J Rare Dis

Dentinogenesis imperfecta type 2

Review article
English (2008) - Orphanet J Rare Dis

Dentinogenesis imperfecta type 3

Review article
English (2008) - Orphanet J Rare Dis

Denys-Drash syndrome

Clinical practice guidelines
English (2021) Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group - Nat Rev Nephrol

English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int

Dermatitis herpetiformis

Clinical practice guidelines
Français (2016) Maladies bulleuses auto-immunes : Dermatite herpétiforme - PNDS

English (2020) S2k guidelines (consensus statement) for diagnosis and therapy of dermatitis herpetiformis initiated by the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol

Dermatofibrosarcoma protuberans

Article for general public
English (2017) - PDQ Cancer Inf Sum

Clinical practice guidelines
Deutsch (2018) - AWMF

Deutsch (2021) - AWMF

English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

Dermatomyositis

Article for general public
Français (2013.pdf) - Orphanet

Deutsch (2017.pdf) - ACHSE

Svenska (2015) - Socialstyrelsen

Emergency guidelines
Français (2024.pdf) Dermatomyosite juvénile et dermatomyosite de l'adulte - Orphanet Urgences

Español (2017.pdf) Dermatomiositis juvenil y dermatomiositis del adulto - Orphanet Urgences
Anesthesia guidelines
English (2016) - Orphananesthesia

Español (2019) - Orphananesthesia

Čeština (2016) - Orphananesthesia
Clinical practice guidelines
Français (2019) Fragilités osseuses secondaires de lenfant - PNDS

Français (2016) Dermatomyosite de lenfant et de ladulte - PNDS

Français (2016) Dermatomyosite de lenfant et de ladulte - PNDS

Deutsch (2022) - AWMF

Review article
English (2019) Advances in Cutaneous Lupus Erythematosus and Dermatomyositis: A Report from the 4th International Conference on Cutaneous Lupus Erythematosus-An Ongoing Need for International Consensus and Collaborations - J Invest Dermatol
Diagnostic criteria
English (1975) Polymyositis and dermatomyositis (second of two parts) - N Engl J Med

English (2003) Polymyositis and dermatomyositis (first of two parts) - N Engl J Med

Disability factsheet
Français (2015.pdf) - Orphanet

Dermatosparaxis Ehlers-Danlos syndrome

Anesthesia guidelines
Deutsch (2019) - Orphananesthesia

English (2019) - Orphananesthesia

Español (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia
Clinical practice guidelines
Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS

English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open

English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis

English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers

English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open

Review article
Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer

Guidance for genetic testing
English (2010) - Eur J Hum Genet

Dermochondrocorneal dystrophy

Review article
English (2009) - Orphanet J Rare Dis

Desmin-related myopathy with Mallory body-like inclusions

Article for general public
Norsk (2012.pdf) - Cure CMD

Français (2012.pdf) - Cure CMD

Latviešu (2012.pdf) - Cure CMD

Deutsch (2012.pdf) - Cure CMD

English (2012.pdf) - Cure CMD

Español (2012.pdf) - Cure CMD

Türkçe (2012.pdf) - Cure CMD

Српски (2012.pdf) - Cure CMD

Čeština (2012.pdf) - Cure CMD

Português (2012.pdf) - Cure CMD

日本語 (2012.pdf) - Cure CMD

Clinical practice guidelines
Français (2021) Myosite à inclusions sporadique - PNDS

Français (2021) Myosite à inclusions sporadique - PNDS

Desminopathy

Article for general public
Svenska (2023) Myofibrillära myopatier - Socialstyrelsen

Anesthesia guidelines
English (2015) - Orphananesthesia

Español (2015) - Orphananesthesia

Čeština (2015) - Orphananesthesia
Clinical practice guidelines
Français (2021) Myosite à inclusions sporadique - PNDS

Desmoid tumor

Clinical practice guidelines
English (2020) The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients - Eur J Cancer

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Desmoplastic infantile astrocytoma/ganglioglioma

Clinical practice guidelines
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol

Desmoplastic small round cell tumor

Article for general public
English (2017) - PDQ Cancer Inf Sum

Clinical practice guidelines
Deutsch (2021) - AWMF

English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol

Desmoplastic/nodular medulloblastoma

Clinical practice guidelines
English (2019) EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma - Lancet Oncol

English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol

Desquamative interstitial pneumonia

Clinical practice guidelines
English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J

Developmental and epileptic encephalopathy with spike-wave activation in sleep

Article for general public
Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Emergency guidelines
Français (2012.pdf) Épilepsie avec pointes-ondes continues du sommeil (EPOCS) - Orphanet Urgences

Italiano (2012.pdf) Epilessia con punte e onde continue durante il sonno - Orphanet Urgences
Clinical practice guidelines
Français (2021) Encéphalopathie Epileptique avec Pointe Ondes Continues du Sommeil (EEPOCS) (y compris syndrome de Landau-Kleffner) - PNDS

Review article
English (2012) Electrical status epilepticus in sleep: clinical presentation and pathophysiology - Pediatr Neurol
Clinical genetics review
English (2016) - GeneReviews

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Article for general public
English (2019.pdf) MED13L syndrome - Unique

ქართული (2019.pdf) MED13L syndrome - Unique

Русский (2019.pdf) MED13L syndrome - Unique

Clinical practice guidelines
Français (2022) Syndrome MED13L - PNDS

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia 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

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Article for general public
English (2018.pdf) 2q24.3 Microdeletions - Unique

Clinical practice guidelines
Français (2024) Colobomes oculaires - PNDS

Developmental malformations-deafness-dystonia syndrome

Clinical practice guidelines
Deutsch (2021) - AWMF

Dextrocardia

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Diamond-Blackfan anemia

Article for general public
Deutsch (2020.pdf) - Kindernetzwerk e.V.

Svenska (2016) - Socialstyrelsen

Emergency guidelines
Français (2022.pdf) Anémie de Blackfan-Diamond - Orphanet Urgences

Italiano (2012.pdf) Anemia di Blackfan-Diamond - Orphanet Urgences
Clinical practice guidelines
Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS

Deutsch (2022) - AWMF

English (2008) Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference - Br J Haematol

English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol

Clinical genetics review
English (2023) Diamond-Blackfan Anemia - GeneReviews

Disability factsheet
Français (2018.pdf) - Orphanet

Guidance for genetic testing
English (2011) - Eur J Hum Genet

Dianzani autoimmune lymphoproliferative disease

Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Clinical practice guidelines
Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS

Guidance for genetic testing
Français (2017.pdf) - ANPGM

Diaphragmatic defect-limb deficiency-skull defect syndrome

Emergency guidelines
Français (2020.pdf) Hernie de coupole diaphragmatique - Orphanet Urgences

Diaphragmatic hernia-short bowel-asplenia syndrome

Emergency guidelines
Français (2020.pdf) Hernie de coupole diaphragmatique - Orphanet Urgences

Diastrophic dysplasia

Article for general public
Deutsch (2006.pdf) - ACHSE

Svenska (2023) - Socialstyrelsen

Clinical genetics review
English (2023) Diastrophic Dysplasia - GeneReviews

Diazoxide-resistant diffuse hyperinsulinism

Review article
English (2011) - Orphanet J Rare Dis

Diazoxide-resistant focal hyperinsulinism

Review article
English (2011) - Orphanet J Rare Dis

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Review article
English (2011) - Orphanet J Rare Dis

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Review article
English (2011) - Orphanet J Rare Dis

Diazoxide-resistant hyperinsulinism

Clinical practice guidelines
Deutsch (2020) - AWMF

Review article
English (2011) - Orphanet J Rare Dis

Diazoxide-sensitive diffuse hyperinsulinism

Clinical practice guidelines
Deutsch (2020) - AWMF

Review article
English (2011) - Orphanet J Rare Dis

DICER1 tumor-predisposition syndrome

Clinical practice guidelines
English (2021) Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group - Fam Cancer

Clinical genetics review
English (2020) DICER1 Tumor Predisposition - GeneReviews

Difference of sex development

Clinical practice guidelines
English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol

English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol

Review article
English (2012) - RadioGraphics

Español (2022) Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD) - SEEP

Differentiated thyroid carcinoma

Article for general public
Français (2013) - INCa

Clinical practice guidelines
Français (2010) - ALD

English (2012) Management of Thyroid Carcinoma in Children and Young Adults - J Pediatr Hematol Oncol

Review article
Français (2007.pdf) - Ann Endocrinol

Diffuse astrocytoma

Clinical practice guidelines
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Clinical practice guidelines
Deutsch (2019) - AWMF

Diffuse cutaneous mastocytosis

Article for general public
Svenska (2016) - Socialstyrelsen

Emergency guidelines
Français (2024.pdf) Mastocytoses - Orphanet Urgences
Clinical practice guidelines
Français (2022) Mastocytoses non-avancées chez ladulte - PNDS

English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
Diagnostic Keys
Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic

Diffuse cutaneous systemic sclerosis

Article for general public
Français (2014) - SNFMI

Deutsch (2017.pdf) - ACHSE

Svenska (2022) - Socialstyrelsen

Emergency guidelines
Français (2025.pdf) Sclérodermie systémique - Orphanet Urgences

Deutsch (2010.pdf) Systemische Sklerodermie - Orphanet Urgences

Español (2017.pdf) Esclerodermia sistémica - Orphanet Urgences

Italiano (2014.pdf) Sclerodermia sistemica - Orphanet Urgences
Anesthesia guidelines
English (2015) - Orphananesthesia

Español (2015) - Orphananesthesia

Čeština (2015) - Orphananesthesia
Clinical practice guidelines
Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS

Français (2017) Sclérodermie Systémique - PNDS

English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol

English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis

English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res

English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol

English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant

English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol

English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter

English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol

English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol

English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res

English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis

English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol

English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol

English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology

English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis

English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology

English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant

English (2018) Systemic sclerosis: state of the art on clinical practice guidelines - RMD Open

English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev

English (2021) French recommendations for the management of systemic sclerosis - Orphanet J Rare Dis

English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol

English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol

English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev

English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant

English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant

English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology

English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology

English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis

English (2018) Systemic sclerosis: state of the art on clinical practice guidelines - RMD Open

English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter

English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol

English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol

English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol

Español (2020.pdf) - Asoc Española de Pediatría

Review article
English (2021) - Orphanet J Rare Dis

Português (2013) Recomendações sobre diagnóstico e tratamento da esclerose sistêmica - Rev Bras Reumatol

Disability factsheet
Français (2018.pdf) - Orphanet
Diagnostic Keys
Français (2022) Acrosyndrome - Les clés du diagnostic

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

Clinical practice guidelines
English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J

Diffuse intrinsic pontine glioma

Clinical practice guidelines
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol

Diffuse large B-cell lymphoma

Clinical practice guidelines
English (2019) Guidelines for the diagnosis and management of primary central nervous system diffuse large B-cell lymphoma - Br J Haematol

Review article
Deutsch (2022) - Onkopedia

English (2019) Diffuse large B-cell lymphoma: 2019 update on diagnosis, risk stratification, and treatment - Am J Hematol

Diffuse large B-cell lymphoma of the central nervous system

Review article
Deutsch (2022) - Onkopedia

Diffuse large B-cell lymphoma with chronic inflammation

Review article
Deutsch (2022) - Onkopedia

Diffuse lymphatic malformation

Article for general public
Svenska (2016) - Socialstyrelsen

Clinical practice guidelines
English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet

Diffuse panbronchiolitis

Diagnostic Keys
Français (2024) Dyspnée chez l'adulte - Les clés du diagnostic

Digenic Alport syndrome

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

English (2024) Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN - Nephrol Dial Transplant

Digenic hemochromatosis

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

Digital extensor muscle aplasia-polyneuropathy

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Dihydropteridine reductase deficiency

Clinical practice guidelines
English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis

Dilated cardiomyopathy

Article for general public
Deutsch (2015.pdf) - BVHK

Clinical practice guidelines
Deutsch (2024) - AWMF

English (2016) Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases - Eur Heart J

Clinical genetics review
English (2022) - GeneReviews

Guidance for genetic testing
English (2012) - Eur J Hum Genet

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Clinical practice guidelines
Français (2022) Laminopathies avec présentation cardiaque - PNDS

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Diprosopus

Anesthesia guidelines
English (2016) - Orphananesthesia

Čeština (2016) - Orphananesthesia

Discoid lupus erythematosus

Clinical practice guidelines
Deutsch (2020) - AWMF

Discrete fibromuscular subaortic stenosis

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Deutsch (2017) - AWMF

Discrete fixed membranous subaortic stenosis

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Deutsch (2017) - AWMF

Disease associated with non-acquired combined pituitary hormone deficiency

Clinical practice guidelines
Français (2021) Déficit hypophysaire congénital - PNDS

English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol

Disorder of bile acid synthesis

Review article
English (2007) Inborn Errors of Bile Acid Metabolism - Clin Liver Dis

Disorder of protein N-glycosylation

Clinical genetics review
English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews

Disorder of urea cycle metabolism and ammonia detoxification

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) Déficits du cycle de l'urée - G2M

Français (2023) Hyperammoniémie - G2M

Français (2023) Coma et maladies héréditaires du métabolisme - G2M

Français (2023) Insuffisance hépatique néonatale - G2M

Français (2023.pdf) Déficits du cycle de l'urée - Orphanet Urgences

English (2023.pdf) Urea cycle disorders - G2M

English (2023.pdf) Hyperammonaemia protocol (new patient) - G2M

English (2023.pdf) COMA and inherited metabolic diseases (new patient) - G2M
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 (2019) Progress and challenges in development of new therapies for urea cycle disorders - Hum Mol Genet
Clinical genetics review
English (2017) - GeneReviews

Disorder with multisystemic involvement and glomerulopathy

Clinical practice guidelines
English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int

Disorders of vitamin D metabolism

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

Disseminated superficial actinic porokeratosis

Review article
English (2014) - Eur J Dermatol

English (2020) Porokeratosis: A Review of its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment - Actas Dermosifiliogr

Español (2020) Poroqueratosis. Revisión de su etiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento - Actas Dermosifiliogr

Distal 16p11.2 microdeletion syndrome

Article for general public
Français (2013.pdf) Microdélétions 16p11.2 - Unique

English (2019.pdf) 16p11.2 Microdeletions - Unique

Nederlands (2013.pdf) 16p11.2 microdeleties - Unique

Svenska (2021) - Socialstyrelsen

العربية (2019.pdf) 16p11.2 Microdeletions - Unique

Distal 17p13.1 microdeletion syndrome

Article for general public
English (2018.pdf) 17p13.1 And 17p13.2 Microdeletions - Unique

Distal 17p13.3 microdeletion syndrome

Article for general public
English (2018.pdf) 17p13.3 Microdeletions - Unique

Distal 22q11.2 microdeletion syndrome

Article for general public
English (2013.pdf) 22q11.2 Distal Deletion Syndrome - Unique

Distal 7q11.23 microdeletion syndrome

Article for general public
English (2009.pdf) 7q Deletions Proximal Interstitial - Unique

Distal 7q11.23 microduplication syndrome

Article for general public
Français (2013.pdf) Syndrome Duplicationnel 7q11.23 - Unique

Polski (2020.pdf) Zespó? duplikacji 7q11.23 - Unique

English (2020.pdf) 7q11.23 Duplication Syndrome - Unique

Español (2010.pdf) 7q11.23 Microduplicacion Spanish - Unique

Nederlands (2013.pdf) 7q11.23 duplication syndrome - Unique

Português (2020.pdf) Síndrome de duplicação 7q11.23 - Unique

Distal anoctaminopathy

Clinical genetics review
English (2019) - GeneReviews

Distal arthrogryposis type 1

Anesthesia guidelines
English (2019) - Orphananesthesia

Español (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia

Distal deletion 10p syndrome

Article for general public
English (2011.pdf) 10p Deletions - Unique

Distal deletion 10q syndrome

Article for general public
Français (2012.pdf) Délétions 10q25 et 10q26 - Unique

English (2022.pdf) 10q25 And 10q26 Deletions - Unique

Español (2014.pdf) 10q25 Y10q26 Deleciones Spanish - Unique

Svenska (2020.pdf) 10q25 And 10q26 Deletions - Unique

Русский (2021) 10q25 And 10q26 Deletions - Unique

Clinical practice guidelines
Français (2022) Délétion 10q26 - PNDS

Distal deletion 13q syndrome

Article for general public
Français (2013.pdf) Deletions De La Region 13q Terminale - Unique

Français (2013.pdf) Deletions De La Region 13q Terminale - Unique

Deutsch (2020.pdf) - Soma e.V.

English (2014.pdf) 13q Deletions Including The End Of 13q - Unique

Русский (2014.pdf) Deletions Including The End Of 13q - Unique

Русский (2014.pdf) Deletions Including The End Of 13q - Unique

Distal deletion 15q syndrome

Article for general public
English (2013.pdf) 15q26 Deletions - Unique

Nederlands (2013.pdf) 15q26 deleties - Unique

Nederlands (2013.pdf) 15q26 deleties - Unique

Distal deletion 19p syndrome

Article for general public
Français (2021.pdf) Microdélétions 19p13.3 - Unique

English (2016.pdf) 19p13.3 Microdeletions - Unique

Distal deletion 3p syndrome

Article for general public
Svenska (2018) - Socialstyrelsen

Distal deletion 4q syndrome

Article for general public
Français (2006) De?le?tions 4q Depuis 4q31 Et Au Dela? - Unique

English (2006.pdf) 4q Deletions From 4q31and Beyond - Unique

Svenska (2018) - Socialstyrelsen

Distal deletion 6p syndrome

Article for general public
Français (2017.pdf) Deletions 6p - Unique

English (2014) Deletions From 6p25 And The End Of The Chromosome - Unique

Distal deletion 9p syndrome

Anesthesia guidelines
English (2017) - Orphananesthesia

Čeština (2017) - Orphananesthesia

Distal duplication 14q syndrome

Article for general public
English (2007.pdf) 14q Distal Duplications - Unique

Distal duplication 18q syndrome

Anesthesia guidelines
English (2017) - Orphananesthesia

Čeština (2017) - Orphananesthesia

Distal duplication 2p syndrome

Article for general public
English (2009.pdf) 2p Duplications - Unique

Русский (2009.pdf) 2p Duplications - Unique

Distal duplication 3p syndrome

Article for general public
English (2016.pdf) 3p Duplications - Unique

Nederlands (2016.pdf) 3p Duplicaties - Unique

中文 (2016.pdf) 3p Duplications - Unique

Distal duplication 4q syndrome

Article for general public
English (2021.pdf) Duplications of 4q - Unique

English (2016.pdf) 4q Duplications - Unique

Nederlands (2013.pdf) 4q Duplicaties - Unique

Distal duplication 6p syndrome

Article for general public
English (2018.pdf) Duplications Of 6p - Unique

Русский (2008.pdf) 6p Duplications - Unique

Русский (2008.pdf) 6p Duplications - Unique

Distal duplication 6q syndrome

Article for general public
English (2018.pdf) Duplications Of 6q - Unique

Distal duplication 8q syndrome

Article for general public
Français (2019.pdf) Duplications 8q - Unique

English (2005.pdf) 8q Duplications - Unique

Svenska (2018) - Socialstyrelsen

Русский (2005.pdf) 8q Duplications - Unique

Distal duplication 9q syndrome

Article for general public
Svenska (2020) - Socialstyrelsen

Distal hereditary motor neuropathy

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal hereditary motor neuropathy type 1

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal hereditary motor neuropathy type 2

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Disability factsheet
Français (2019.pdf) - Orphanet

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal hereditary motor neuropathy type 5

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Clinical genetics review
English (2021) - GeneReviews

English (2018) BSCL2-Related Neurologic Disorders/Seipinopathy - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal hereditary motor neuropathy type 7

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal hereditary motor neuropathy, Jerash type

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal monosomy 7q36 syndrome

Article for general public
Français (2015.pdf) 7q36 Deletions - Unique

Deutsch (2009.pdf) 7q36 Deletionen German - Unique

English (2005.pdf) 7q36 Deletions - Unique

Русский (2018.pdf) 7q36 Deletions - Unique

Distal myopathy

Clinical practice guidelines
Deutsch (2021) - AWMF

Distal myopathy with anterior tibial onset

Clinical genetics review
English (2021) Dysferlinopathy - GeneReviews

Distal myopathy, Welander type

Article for general public
Svenska (2018) - Socialstyrelsen

Anesthesia guidelines
English (2019) - Orphananesthesia

Español (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia

Distal myotilinopathy

Article for general public
Svenska (2023) Myofibrillära myopatier - Socialstyrelsen

Distal renal tubular acidosis

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

English (2021) Distal renal tubular acidosis: ERKNet/ESPN clinical practice points - Nephrol Dial Transplant

Review article
English (2012) Genetic causes and mechanisms of distal renal tubular acidosis - Nephrol Dial Transplant
Clinical genetics review
English (2019) Hereditary Distal Renal Tubular Acidosis - GeneReviews

Distal renal tubular acidosis with anemia

Clinical practice guidelines
English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica

English (2021) Distal renal tubular acidosis: ERKNet/ESPN clinical practice points - Nephrol Dial Transplant

Review article
English (2012) Genetic causes and mechanisms of distal renal tubular acidosis - Nephrol Dial Transplant
Clinical genetics review
English (2019) Hereditary Distal Renal Tubular Acidosis - GeneReviews

Guidance for genetic testing
Français (2015.pdf) - ANPGM

Distal spinal muscular atrophy type 3

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia

Disability factsheet
Français (2019.pdf) - Orphanet

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Distal Xq28 microduplication syndrome

Clinical genetics review
English (2021) Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated - GeneReviews

DITRA

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 (2013) - Orphanet J Rare Dis

DK1-CDG

Emergency guidelines
Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
Clinical practice guidelines
Français (2021) Ichthyoses héréditaires - PNDS

Clinical genetics review
English (2013.pdf) - Eur J Hum Genet

English (2017) - GeneReviews

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

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

DNA2-related mitochondrial DNA deletion syndrome

Clinical practice guidelines
English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med

English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord

DNAJB2-related Charcot-Marie-Tooth disease type 2

Article for general public
Svenska (2020) - Socialstyrelsen

Anesthesia guidelines
Deutsch (2022) - Orphananesthesia

English (2022) - Orphananesthesia

Español (2022) - Orphananesthesia

Čeština (2014) - Orphananesthesia
Clinical practice guidelines
Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS

Deutsch (2021) - AWMF

Clinical genetics review
English (2016) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

DNAJB6-related limb-girdle muscular dystrophy D1

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

Dominant beta-thalassemia

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

English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society

Review article
Deutsch (2022) - Onkopedia

English (2010) - Orphanet J Rare Dis
Clinical genetics review
English (2023) Beta-Thalassemia - GeneReviews

Disability factsheet
Français (2020.pdf) - Orphanet

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
Français (2019.pdf) - ANPGM

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

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

Donnai-Barrow syndrome

Emergency guidelines
Français (2020.pdf) Hernie de coupole diaphragmatique - Orphanet Urgences

Clinical genetics review
English (2018) - GeneReviews

Donohue syndrome

Anesthesia guidelines
English (2021) - Orphananesthesia

Čeština (2021) - Orphananesthesia
Clinical practice guidelines
Español (2010.pdf) - ECEMC

Clinical genetics review
English (2018) - GeneReviews

DOORS syndrome

Clinical genetics review
English (2017) TBC1D24-Related Disorders - GeneReviews

Dopa-responsive dystonia

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

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Clinical practice guidelines
English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis

English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol

Review article
English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
Clinical genetics review
English (2015) Sepiapterin Reductase Deficiency - GeneReviews

Dopamine beta-hydroxylase deficiency

Clinical genetics review
English (2019) - GeneReviews

Dorsal spinal cord lipoma

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

Double outlet left ventricle

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Double outlet right ventricle

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Deutsch (2020) - AWMF

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Double outlet right ventricle with non-committed subpulmonary ventricular septal defect

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Double outlet right ventricle with subpulmonary ventricular septal defect

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Double-orifice mitral valve

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Down syndrome

Clinical practice guidelines
Français (2020) Trisomie 21 - PNDS

Deutsch (2016) - AWMF

English (2020) Medical Care of Adults With Down Syndrome: A Clinical Guideline - JAMA

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
Deutsch (2015.pdf) - Kardiologe

DPAGT1-CDG

Clinical genetics review
English (2017) - GeneReviews

Guidance for genetic testing
English (2015) - Eur J Hum Genet

DPM1-CDG

Clinical genetics review
English (2017) - GeneReviews

DPM3-CDG

Clinical practice guidelines
English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology

Clinical genetics review
English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews

Dravet syndrome

Article for general public
Français (2011.pdf) - Orphanet

Español (2020.pdf) Epilepsia PCDH19 - Unique

Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE

Svenska (2024) - Socialstyrelsen

Italiano (2020.pdf) Epilessia correlata a PCDH19 - Unique

Emergency guidelines
Français (2021.pdf) Syndrome de Dravet - Orphanet Urgences

Polski (2008.pdf) Ciezka miokloniczna padaczka niemowlat - Orphanet Urgences

English (2008.pdf) Severe myoclonic epilepsy in infancy - Orphanet Urgences

Italiano (2008.pdf) Epilessia mioclonica grave del neonato - Orphanet Urgences

Português (2008.pdf) Epilepsia mioclonica grave da infancia - Orphanet Urgences
Clinical practice guidelines
Français (2021) Syndrome de Dravet - PNDS

Clinical genetics review
English (2022) SCN1A Seizure Disorders - GeneReviews

Disability factsheet
Français (2013.pdf) - Orphanet

Español (2018.pdf) - Orphanet

Drug or radiation exposure-related interstitial lung disease

Clinical practice guidelines
English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J

Drug reaction with eosinophilia and systemic symptoms

Clinical practice guidelines
Français (2024) DRESS de ladulte et de lenfant - PNDS

Deutsch (2023) - AWMf

Drug- or toxin-induced 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

Emergency guidelines
Français (2020.pdf) Hypertension artérielle pulmonaire - Orphanet Urgences
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

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Drug-induced autoimmune hemolytic anemia

Article for general public
Français (2009.pdf) - Orphanet

Clinical practice guidelines
Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS

Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS

Drug-induced lupus erythematosus

Clinical practice guidelines
Français (2024) Lupus Systémique de l'adulte et de l'enfant - PNDS

Drug-induced vasculitis

Emergency guidelines
Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences

Drug-related renal tubular dysgenesis

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

Duane retraction syndrome

Clinical genetics review
English (2019) - GeneReviews

Dubowitz syndrome

Article for general public
Deutsch (2019.pdf) - Kindernetzwerk e.V.

Anesthesia guidelines
English (2020) - Orphananesthesia

Čeština (2020) - Orphananesthesia
Clinical practice guidelines
Deutsch (2023) - AWMF

Review article
English (2011) Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features - J Clin Med Res

Duchenne and Becker muscular dystrophy

Article for general public
Deutsch (2014.pdf) - ACHSE

Clinical practice guidelines
Deutsch (2021) - AWMF

Clinical genetics review
English (2018) - GeneReviews

Guidance for genetic testing
Français (2016.pdf) - ANPGM

Duchenne muscular dystrophy

Article for general public
Norsk (2010.pdf) - Treat-NMD

Suomi (2010.pdf) - Treat-NMD

Français (2018.pdf) - Treat-NMD

עברית (2010.pdf) - Treat-NMD

Polski (2010.pdf) - Treat-NMD

Tiếng Việt (2010.pdf) - Treat-NMD

Latviešu (2010.pdf) - Treat-NMD

Lietuvių (2010.pdf) - Treat-NMD

Deutsch (2018.pdf) - Treat-NMD

Українська (2018.pdf) - Treat-NMD

فارسی (2010.pdf) - Treat-NMD

Ελληνικά (2010.pdf) - Treat-NMD

English (2018.pdf) - Treat-NMD

Español (2018) - Treat-NMD

Nederlands (2010.pdf) - Treat-NMD

Türkçe (2010.pdf) - Treat-NMD

Svenska (2021) - Socialstyrelsen

Български (2010.pdf) - Treat-NMD

Slovenščina (2010.pdf) - Treat-NMD

Slovenčina (2010.pdf) - Treat-NMD

Dansk (2010.pdf) - Treat-NMD

Кыргызча (2010.pdf) - Treat-NMD

Српски (2010.pdf) - Treat-NMD

Čeština (2018.pdf) - Treat-NMD

Русский (2018.pdf) - Treat-NMD

中文 (2010.pdf) - Treat-NMD

Română (2010.pdf) - Treat-NMD

Magyar (2010.pdf) - Treat-NMD

Italiano (2010.pdf) - Treat-NMD

Português (2018.pdf) - Treat-NMD

日本語 (2010.pdf) - Treat-NMD

Emergency guidelines
Français (2020.pdf) Dystrophie musculaire de Duchenne - Orphanet Urgences

Polski (2009.pdf) Dystrofia miesniowa Duchenne'a - Orphanet Urgences

Deutsch (2009.pdf) Duchenne-Muskeldystrophie - Orphanet Urgences

English (2009.pdf) Duchenne muscular dystrophy - Orphanet Urgences

Español (2022.pdf) Distrofia muscular de Duchenne - Orphanet Urgences

Italiano (2009.pdf) Miopatia di Duchenne - Orphanet Urgences
Anesthesia guidelines
Deutsch (2019) - Orphananesthesia

English (2019) - Orphananesthesia

Español (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia
Clinical practice guidelines
Français (2019) Fragilités osseuses secondaires de lenfant - PNDS

Français (2019) Dystrophie musculaire de Duchenne - PNDS

English (2019) Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy - Neurologia (Engl Ed)

English (2018) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management - Lancet Neurol

English (2020) Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy - Disabil Rehabil

Español (2019) Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne - Neurología

Review article
English (2015) Recent advances in the management of Duchenne muscular dystrophy - Arch Dis Child
Clinical genetics review
English (2022) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Guidance for genetic testing
Français (2016.pdf) - ANPGM

English (2018.pdf) - Eur J Hum Genet

Duodenal neuroendocrine tumor

Clinical practice guidelines
English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut

Duplication of urethra

Clinical practice guidelines
Français (2024) Transplantation rénale chez lenfant - PNDS

Français (2018) Maladie Rénale Chronique de l'enfant - PNDS

Dural sinus malformation

Clinical practice guidelines
Deutsch (2023) - AWMF

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

Clinical genetics review
English (2024) DYNC1H1-Related Disorders - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

DYRK1A-related intellectual disability syndrome

Clinical practice guidelines
Français (2021) Syndrome DYRK1A - PNDS

Clinical genetics review
English (2021) - GeneReviews

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Article for general public
English (2015.pdf) DYRK1A and 21q22.13 deletion syndrome - Unique

Español (2020.pdf) DYRK1A y sindrome de delecion 21q22.13 Spanish - Unique

Clinical practice guidelines
Français (2021) Syndrome DYRK1A - PNDS

Clinical genetics review
English (2021) - GeneReviews

Dysbetalipoproteinemia

Clinical practice guidelines
Deutsch (2022) - AWMF

Clinical genetics review
English (2014) - GeneReviews

Dysembryoplastic neuroepithelial tumor

Clinical practice guidelines
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol

Dysequilibrium syndrome

Article for general public
Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND

Polski (2021.pdf) Ataxia: What's that? - ERN-RND

Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND

English (2021.pdf) Ataxia: What's that? - ERN-RND

Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND

Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND

Čeština (2021.pdf) Ataxia: What's that? - ERN-RND

Magyar (2021.pdf) Ataxia: mi az? - ERN-RND

Italiano (2021.pdf) Atassia: cos'è? - ERN-RND

Português (2021.pdf) Ataxia: O que é isso? - ERN-RND

Clinical practice guidelines
Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND

Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND

English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND

Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND

Clinical genetics review
English (2020) VLDLR Cerebellar Hypoplasia - GeneReviews

Dysferlin-related limb-girdle muscular dystrophy R2

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 (2021) - GeneReviews

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Dyskeratosis congenita

Article for general public
Svenska (2017) - Socialstyrelsen

Emergency guidelines
Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
Anesthesia guidelines
English (2019) - Orphananesthesia

Čeština (2019) - Orphananesthesia
Clinical practice guidelines
Français (2022) Déficits immunitaires héréditaires - PNDS

Français (2024) Aplasies médullaires acquises et constitutionnelles - 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

Clinical genetics review
English (2023) Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews

Guidance for genetic testing
English (2011) - Eur J Hum Genet

Dysosteosclerosis

Article for general public
Svenska (2019) - Socialstyrelsen

Anesthesia guidelines
English (2016) - Orphananesthesia

Čeština (2016) - Orphananesthesia

Review article
English (2009) - Orphanet J Rare Dis

Dysostosis with brachydactyly

Review article
English (2008) - Orphanet J Rare Dis

Dysphagia lusoria

Clinical practice guidelines
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Dysraphic spinal cord lipoma

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

Dysraphism with stalk

Clinical practice guidelines
Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS

Dystonia 16

Clinical practice guidelines
English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol

Dystonia 28

Clinical genetics review
English (2022) KMT2B-Related Dystonia - GeneReviews

Dystonia-parkinsonism-hypermanganesemia syndrome

Clinical genetics review
English (2022) SLC39A14 Deficiency - GeneReviews

Dystrophic epidermolysis bullosa

Article for general public
Français (2012.pdf) - Orphanet

Svenska (2024) - Socialstyrelsen

Emergency guidelines
Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
Anesthesia guidelines
English (2020) - Orphananesthesia

Čeština (2020) - Orphananesthesia
Clinical practice guidelines
Français (2015) Épidermolyses bulleuses héréditaires - PNDS

English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol

English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol

English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International

English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol

English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis

English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis

English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent

English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med

English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International

English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis

English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis

English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International

Español (2017.pdf) - Wounds International

Review article
English (2021) - Orphanet J Rare Dis
Clinical genetics review
English (2018) Dystrophic Epidermolysis Bullosa - GeneReviews

Disability factsheet
Français (2013.pdf) - Orphanet

Español (2018.pdf) - Orphanet

Dystrophic epidermolysis bullosa pruriginosa

Article for general public
Français (2012.pdf) - Orphanet

Svenska (2024) - Socialstyrelsen

Emergency guidelines
Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
Anesthesia guidelines
English (2020) - Orphananesthesia

Čeština (2020) - Orphananesthesia
Clinical practice guidelines
Français (2015) Épidermolyses bulleuses héréditaires - PNDS

English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol

English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol

English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International

English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol

English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis

English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis

English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent

English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med

English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International

English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis

English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis

English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International

Español (2017.pdf) - Wounds International

Clinical genetics review
English (2018) Dystrophic Epidermolysis Bullosa - GeneReviews

Disability factsheet
Français (2013.pdf) - Orphanet

Español (2018.pdf) - Orphanet

Knowledge on rare diseases and orphan drugs

Encyclopaedia

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