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T+ B+ severe combined immunodeficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
T-B+ severe combined immunodeficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
T-B+ severe combined immunodeficiency due to CD45 deficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
T-B+ severe combined immunodeficiency due to gamma chain deficiency
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
T-B- severe combined immunodeficiency
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
T-cell immunodeficiency with epidermodysplasia verruciformis
- 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
T-cell immunodeficiency with thymic aplasia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
T-cell large granular lymphocyte leukemia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
T-cell non-Hodgkin lymphoma
- Clinical practice guidelines
  Français (2012) - ALD
  
  Deutsch (2023) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
T-cell prolymphocytic leukemia
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2019) Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia - Blood
T-cell/histiocyte rich large B cell lymphoma
- Review article
  Deutsch (2022) - Onkopedia
TAFRO syndrome
- Diagnostic criteria
  English (2016) Proposed diagnostic criteria, disease severity classification and treatment strategy for TAFRO syndrome, 2015 version - Int J Hematol
Takayasu arteritis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2014) - SNFMI
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Svenska (2023) Takayasus arterit - Socialstyrelsen
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Emergency guidelines
  Français (2024.pdf) Artérite de Takayasu - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2019) Artérite de Takayasu - PNDS
  
  Français (2019) Artérite de Takayasu - PNDS
  
  Deutsch (2020) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2021) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Giant Cell Arteritis and Takayasu Arteritis - Arthritis Rheumatol
  
  English (2021) French recommendations for the management of Takayasus arteritis - Orphanet J Rare Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Diagnostic Keys
  Français (2022) Arthrite - Les clés du diagnostic
- Review article
  Français (2006.pdf) - Press Med
Takenouchi-Kosaki syndrome
- Article for general public
  日本語 (2019) - Information Center for Specific Pediatric Chronic Disease, Japan
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Tako-Tsubo cardiomyopathy
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
Tall stature-intellectual disability-renal anomalies syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Tangier disease
- Clinical genetics review
  English (2019) Tangier Disease - GeneReviews
- Guidance for genetic testing
  English (2017) - Eur J Hum Genet
TARP syndrome
- Clinical practice guidelines
  Français (2021) Séquence de Pierre Robin - PNDS
Tatton-Brown-Rahman syndrome
- Clinical genetics review
  English (2022) Tatton-Brown-Rahman Syndrome - GeneReviews
Tay-Sachs disease
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
  
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2020) HEXA Disorders - GeneReviews
Tay-Sachs disease, adult form
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
Tay-Sachs disease, infantile form
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
Tay-Sachs disease, juvenile form
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
TBCK-related intellectual disability syndrome
- Article for general public
  Español (2022.pdf) Síndrome de TBCK - Unique
  
  Русский (2019.pdf) Síndrome de TBCK - Unique
TCR-alpha-beta-positive T-cell deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Telangiectasia macularis eruptiva perstans
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Telethonin-related limb-girdle muscular dystrophy R7
- 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
Temperature-sensitive oculocutaneous albinism type 1
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2013) - GeneReviews
  
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
Temple syndrome due to maternal uniparental disomy of chromosome 14
- Article for general public
  Français (2004.pdf) Tétrasomie X - Unique
  
  English (2020.pdf) Uniparental Disomy 14 - Unique
  
  ქართული (2020.pdf) Uniparental Disomy 14 - Unique
- Review article
  Español (2015.pdf) - CIBERER
Temtamy syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Teratoma of the central nervous system
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2022) EANO, SNO and Euracan consensus review on the current management and future development of intracranial germ cell tumors in adolescents and young adults - Neuro Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
Terminal myelocystocele
- 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
Testicular seminomatous germ cell tumor
- Article for general public
  Français (2014) - INCa
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
  
  English (2022) Testicular seminoma and non-seminoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
Tetanus
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Tetraamelia-multiple malformations syndrome
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2012) - GeneReviews
Tetragametic chimerism syndrome
- 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
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Phénylcétonurie - Orphanet Urgences
  
  Español (2019.pdf) Fenilcetonuria - Orphanet Urgences
- Clinical practice guidelines
  English (2021) Italian national consensus statement on management and pharmacological treatment of phenylketonuria - Orphanet J Rare Dis
  
  English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Tetralogy of Fallot
- Article for general public
  Français (2011.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
  
  Français (2024) Cardiopathies congénitales complexes : tétralogie de Fallot, atrésie pulmonaire à septum ouvert ou agénésie des valves pulmonaires avec communication interventriculaire - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2013) Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement - Europace
- Review article
  English (2009) - Orphanet J Rare Dis
Tetrasomy 18p syndrome
- Article for general public
  Français (2018.pdf) Inversion duplication délétion 8p - Unique
  
  English (2016.pdf) Isochromosome 18p - Unique
  
  Nederlands (2016.pdf) Isochromosoom 18p - Unique
  
  Svenska (2015) - Socialstyrelsen
  
  Русский (2015.pdf) Isochromosome 18p - Unique
Tetrasomy 9p syndrome
- Article for general public
  English (2018.pdf) Tetrasomy 9p - Unique
  
  Español (2018.pdf) Tetrasomia 9p SPANISH - Unique
  
  Español (2018.pdf) Tetrasomia 9p SPANISH - Unique
  
  Русский (2018.pdf) Tetrasomy 9p - Unique
  
  Русский (2018.pdf) Tetrasomy 9p - Unique
Tetrasomy X syndrome
- Article for general public
  Français (2006.pdf) Syndrome De Koolen-de Vries - Unique
  
  English (2005.pdf) Tetrasomy X - Unique
  
  Nederlands (2009.pdf) Tetrasomie X - Unique
  
  ქართული (2004.pdf) Tetrasomy X - Unique
  
  Русский (2005.pdf) Tetrasomy X - Unique
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
TFR2-related 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
- Clinical genetics review
  English (2023) TFR2-Related Hereditary Hemochromatosis - GeneReviews
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Thanatophoric dysplasia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2023) Thanatophoric Dysplasia - GeneReviews
Thanatophoric dysplasia type 1
- Clinical genetics review
  English (2023) Thanatophoric Dysplasia - GeneReviews
Thanatophoric dysplasia type 2
- Clinical genetics review
  English (2023) Thanatophoric Dysplasia - GeneReviews
Theca steroid-producing cell malignant tumor of ovary, not further specified
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  English (2012) Management of Ovarian and Testicular Sex Cord-stromal Tumors in Children and Adolescents - J Pediatr Hematol Oncol
Therapy related acute myeloid leukemia and myelodysplastic syndrome
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Thiamine-responsive maple syrup urine disease
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Leucinose - PNDS
  
  English (2014) Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach - Mol Genet Metab
- Clinical genetics review
  English (2020) Maple Syrup Urine Disease - GeneReviews
Thiamine-responsive megaloblastic anemia syndrome
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Thiel-Behnke corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Thiemann disease, familial form
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
Thinking seizures
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- Clinical genetics review
  English (2020) - GeneReviews
Thomsen and Becker disease
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2018.pdf) - Eur J Hum Genet
Thrombocytopenia with congenital dyserythropoietic anemia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
- Review article
  English (2013) - Blood
- Clinical genetics review
  English (2023) GATA1-Related Cytopenia - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Thrombocytopenia-absent radius syndrome
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - 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
- Clinical genetics review
  English (2023) Thrombocytopenia Absent Radius Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Thrombomodulin-related bleeding disorder
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Thrombotic microangiopathy
- Emergency guidelines
  Français (2021.pdf) Microangiopathies thrombotiques - Orphanet Urgences
- Review article
  English (2012) Thrombotic microangiopathy and associated renal disorders - Nephrol Dial Transplant
Thrombotic thrombocytopenic purpura
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Purpura thrombotique thrombocytopénique - PNDS
  
  English (2012) Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies - Br J Haematol
- Review article
  English (2012) Thrombotic microangiopathy and associated renal disorders - Nephrol Dial Transplant
Thymic carcinoma
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - AnnOncol
  
  English (2021) Lung and thymic carcinoids: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up? - Ann Oncol
Thymic neuroendocrine carcinoma
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - AnnOncol
Thymic neuroendocrine tumor
- Clinical practice guidelines
  English (2012) Management of neuroendocrine tumors in children, adolescents, and young adults - J Pediatr Hematol Oncol
Thymoma
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - AnnOncol
Thymoma type A
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Thymoma type AB
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Thymoma type B
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Thyroid ectopia
- 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
Thyroid hemiagenesis
- 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
Thyroid hypoplasia
- 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
Tibial muscular dystrophy
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical genetics review
  English (2020) - GeneReviews
Tick-borne encephalitis
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Timothy syndrome
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
  
  Русский (2021) CACNA1C Timothy syndrome - Unique
- Emergency guidelines
  Français (2015.pdf) Syndrome du QT long - Orphanet Urgences
  
  Español (2008.pdf) Síndrome de QT largo familiar - Orphanet Urgences
  
  Italiano (2015.pdf) Sindrome del QT lungo - Orphanet Urgences
  
  Italiano (2008.pdf) Sindrome familiare del QT lungo - Orphanet Urgences
  
  Português (2008.pdf) Síndrome do QT longo familiar - Orphanet Urgences
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome du QT Long - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
  
  English (2018) Long QT Syndrome - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2016.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Timothy syndrome type 1
- Article for general public
  Русский (2021) CACNA1C Timothy syndrome - Unique
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical genetics review
  English (2018) Long QT Syndrome - GeneReviews
Timothy syndrome type 2
- Article for general public
  Русский (2021) CACNA1C Timothy syndrome - Unique
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical genetics review
  English (2018) Long QT Syndrome - GeneReviews
Titin-related limb-girdle muscular dystrophy R10
- 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
TMEM165-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
TMEM199-CDG
- Clinical practice guidelines
  Deutsch (2015) - AWMF
TNP03-related limb-girdle muscular dystrophy D2
- 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
TOR1AIP1-related limb-girdle muscular dystrophy
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Toriello-Carey syndrome
- Clinical genetics review
  English (2020) DDX3X-Related Neurodevelopmental Disorder - GeneReviews
Townes-Brocks syndrome
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
- Clinical practice guidelines
  Français (2024) Syndrome de Townes - Brocks - PNDS
- Clinical genetics review
  English (2016) Townes-Brocks Syndrome - GeneReviews
Toxic epidermal necrolysis
- Emergency guidelines
  Français (2019.pdf) Nécrolyse épidermique - Orphanet Urgences
  
  English (2019.pdf) - ERN-Skin
  
  Italiano (2012.pdf) Necrolisi epidermica tossica - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Nécrolyses épidermiques chez lenfant - PNDS
  
  Français (2023) Nécrolyse épidermique de l'adulte - Syndromes de Stevens-Johnson et de Lyell - PNDS
  
  English (2023) Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus - Orphanet J Rare Dis
  
  English (2019) British Association of Dermatologists' guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018 - Br J Dermatol
  
  English (2020) Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement - Orphanet J Rare Dis
  
  English (2020) Society of Dermatology Hospitalists supportive care guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults - J Am Acad Dermatol
  
  English (2016) U.K. guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults 2016 - Br J Dermatol
  
  English (2021) Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensus - Br J Dermatol
- Review article
  Français (2007.pdf) - Rev Praticien
  
  English (2010) - Orphanet J Rare Dis
Tracheal agenesis
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
Tracheobronchopathia osteochondroplastica
- Review article
  English (2014) Tracheobronchopathia osteochondroplastica: a review of the literature - Clin Respir J
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
- Article for general public
  English (2022.pdf) TRAF7-related neurodevelopmental disorder - Unique
Transcobalamin deficiency
- 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
Transient congenital hypothyroidism
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
- Review article
  English (2010) - Orphanet J Rare Dis
Transient congenital hypothyroidism due to maternal factor
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Review article
  English (2010) - Orphanet J Rare Dis
Transient congenital hypothyroidism due to neonatal factor
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Review article
  English (2010) - Orphanet J Rare Dis
Transient hypogammaglobulinemia of infancy
- 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
Transient myeloproliferative syndrome
- Clinical practice guidelines
  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
Transient neonatal diabetes mellitus
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2018) Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Transient neonatal myasthenia gravis
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Myasthénie autoimmune - PNDS
  
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Deutsch (2022) - AWMF
- Review article
  English (2007) - Orphanet J Rare Dis
Transient predisposition to invasive pyogenic bacterial infection
- 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
Transitional cell carcinoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
Transposition of the great arteries
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  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
  
  Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
Transposition of the great arteries and conotruncal cardiac anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
TRAPPC11-related limb-girdle muscular dystrophy R18
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Treacher-Collins syndrome
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Svenska (2015) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  English (2024) Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts - J Craniofac Surg
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2020) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Tremor-ataxia-central hypomyelination 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 (2017) POLR3-Related Leukodystrophy - GeneReviews
Triatrial heart
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Trichodysplasia-amelogenesis imperfecta syndrome
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Trichodysplasia-xeroderma syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Clinical genetics review
  English (2021) PNPLA6 Disorders - GeneReviews
Trichorhinophalangeal syndrome
- Article for general public
  Deutsch (2006.pdf) - ACHSE
  
  Svenska (2015) - Socialstyrelsen
- Clinical genetics review
  English (2017) - GeneReviews
Trichorhinophalangeal syndrome type 1
- Article for general public
  Deutsch (2006.pdf) - ACHSE
  
  Svenska (2015) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome Trichorhinophalangien (TRPS) - PNDS
  
  Français (2021) Syndrome Trichorhinophalangien (TRPS) - PNDS
- Clinical genetics review
  English (2017) - GeneReviews
Trichorhinophalangeal syndrome type 2
- Article for general public
  Deutsch (2006.pdf) - ACHSE
  
  Svenska (2015) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome Trichorhinophalangien (TRPS) - PNDS
  
  Français (2021) Syndrome Trichorhinophalangien (TRPS) - PNDS
- Clinical genetics review
  English (2017) - GeneReviews
Trichothiodystrophy
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Tricuspid atresia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2022) - AWMF
Tricuspid valve agenesis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Trigeminal autonomic cephalalgia
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Trigeminal neuralgia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Review article
  English (2015) - Orphan drugs Res Rev
TRIM32-related limb-girdle muscular dystrophy R8
- 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
Triose phosphate-isomerase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Triple A syndrome
- Anesthesia guidelines
  Deutsch (2018) - Orphananesthesia
  
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2018) - Orphananesthesia
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Triploidy syndrome
- Article for general public
  Français (2021) Triploidie - Unique
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Trisomy 10p syndrome
- Article for general public
  English (2011.pdf) 10p Duplications - Unique
Trisomy 12p syndrome
- Article for general public
  English (2017.pdf) 12p Duplications - Unique
  
  Русский (2017.pdf) 12p Duplications - Unique
Trisomy 13 syndrome
- Article for general public
  Svenska (2008) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Trisomy 17p syndrome
- Article for general public
  Français (2011.pdf) 17p Duplications - Unique
  
  English (2009.pdf) 17p Duplications - Unique
  
  Русский (2009.pdf) 17p Duplications - Unique
Trisomy 18 syndrome
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Surveillance guidelines for children with trisomy 18 - Am J Med Genet
- Review article
  English (2012) - Orphanet J Rare Dis
Trisomy 18p syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
Trisomy 1q syndrome
- Article for general public
  English (2005.pdf) 1q Duplications - Unique
Trisomy 20p syndrome
- Article for general public
  Deutsch (2008.pdf) 20p Duplikationen German - Unique
  
  English (2007.pdf) 20p Duplications - Unique
  
  Svenska (2018) - Socialstyrelsen
Trisomy 4p syndrome
- Article for general public
  Français (2013.pdf) Duplications 4p - Unique
  
  Français (2013.pdf) Duplications 4p - Unique
  
  English (2018.pdf) 4p 8p Translocation - Unique
  
  Русский (2011.pdf) 4p 8p Translocation - Unique
Trisomy 5p syndrome
- Article for general public
  Français (2018) Trisomie 5p : Duplication inversée et délétion 5p - Unique
  
  English (2014) 5p Trisomy Duplications Of The Whole 5p Arm - Unique
  
  Svenska (2018) - Socialstyrelsen
Trisomy 8p syndrome
- Article for general public
  Français (2012.pdf) Les duplications 8p - Unique
  
  English (2005.pdf) 8p Duplications - Unique
  
  Русский (2005.pdf) 8p Duplications - Unique
Trisomy 8q syndrome
- Article for general public
  Svenska (2018) - Socialstyrelsen
Trisomy 9p syndrome
- Article for general public
  Français (2023.pdf) Syndrome duplicationnel 9p - Unique
  
  Deutsch (2010.pdf) Duplikationen Auf 9p - Unique
  
  Deutsch (2010.pdf) Duplikationen Und Mikroduplikationen German - Unique
  
  English (2019.pdf) 9p Duplications - Unique
  
  Español (2019.pdf) 9p Duplicaciones - Unique
  
  Nederlands (2011.pdf) 9p Duplicaties - Unique
  
  Svenska (2017) - Socialstyrelsen
  
  Русский (2019.pdf) Duplications of 9p - Unique
Trisomy X syndrome
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Deutsch (2013.pdf) Trisomie_X_German - Unique
  
  Deutsch (2013.pdf) Trisomie_X_German - Unique
  
  English (2012.pdf) Disclosing about XXX for parents - Unique
  
  English (2012.pdf) Disclosing about XXX for girls - Unique
  
  English (2013.pdf) Triple X syndrome Trisomy X - Unique
  
  Español (2011.pdf) Triple_X_Spanish - Unique
  
  Español (2011.pdf) Triple_X_Spanish - Unique
  
  Dansk (2011.pdf) Triple_X_Danish - Unique
  
  Русский (2012.pdf) Disclosing about XXX for girls - Unique
  
  Русский (2012.pdf) Disclosing about XXX for parents - Unique
  
  Русский (2013.pdf) Triple_X_Syndrome_Trisomy_X_ - Unique
  
  中文 (2013.pdf) Triple X syndrome Trisomy X - Unique
- Review article
  English (2010) - Orphanet J Rare Dis
  
  Español (2010.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2010.pdf) - Eur J Hum Genet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Tropical spastic paraparesis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
TRPV4-related bone disorder
- Clinical genetics review
  English (2020) - GeneReviews
True 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
True 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
TSH-secreting pituitary adenoma
- Clinical practice guidelines
  English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
- Clinical genetics review
  English (2020) - GeneReviews
Tuberculosis
- Article for general public
  Français (2023) - ELF
  
  Polski (2023) - ELF
  
  Deutsch (2023) - ELF
  
  Ελληνικά (2023) - ELF
  
  English (2023) - ELF
  
  Español (2023) - ELF
  
  Български (2021.pdf) - ELF
  
  Русский (2023) - ELF
  
  Română (2021.pdf) - ELF
  
  Magyar (2021.pdf) - ELF
  
  Italiano (2023) - ELF
Tuberous sclerosis complex
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Sclérose tubéreuse de Bourneville - Orphanet Urgences
  
  Polski (2007.pdf) Stwardnienie guzowate - Orphanet Urgences
  
  Deutsch (2007.pdf) Tuberöse Sklerose - Orphanet Urgences
  
  English (2007.pdf) Tuberous sclerosis - Orphanet Urgences
  
  Español (2007.pdf) Esclerosis tuberosa de Bourneville - Orphanet Urgences
  
  Italiano (2007.pdf) Sclerosi tuberosa di Bourneville - Orphanet Urgences
  
  Português (2007.pdf) Esclerose tuberosa - Orphanet Urgences
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Sclérose Tubéreuse de Bourneville - PNDS
  
  Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
  
  English (2024) Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group - Nat Rev Nephrol
  
  English (2021) Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations - Pediatr Neurol
  
  English (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference - Pediatr Neurol
  
  English (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference - Pediatr Neurol
  
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2006.pdf) - Eur J Hum Genet
  
  English (2021) - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Tubulinopathy-associated dysgyria
- Article for general public
  English (2020.pdf) - Unique
- Clinical genetics review
  English (2021) Tubulinopathies Overview - GeneReviews
Tubulocystic renal cell carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Tubulointerstitial nephritis and uveitis syndrome
- Diagnostic Keys
  Français (2023) Uvéite - Les clés du diagnostic
  
  Français (2023) Uvéite - Les clés du diagnostic
  
  Français (2023) Uvéite - Les clés du diagnostic
Tufted angioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Tumor necrosis factor receptor 1 associated periodic syndrome
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2012.pdf) - Fondation Groupama
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Clinical practice guidelines
  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
- Clinical genetics review
  English (2022) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Tumor of meninges
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Tunnel 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
Turcot syndrome with polyposis
- Article for general public
  Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V
- Clinical practice guidelines
  English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
  
  English (2012) Management of colorectal carcinoma in children and young adults - J Pediatr Hematol Oncol
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) APC-Associated Polyposis Conditions - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Turner syndrome
- Article for general public
  Français (2011.pdf) - Orphanet
  
  Deutsch (2021) - ÄZQ
  
  English (2017.pdf) Brief Synopsis for Turner Syndrome Girls and Women and for their Parents/Caregivers/Families - ERN-Endo
  
  Español (2022.pdf) - Asociación Síndrome de Turner
- Clinical practice guidelines
  Français (2021) Syndrome de Turner - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2017) Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting - Eur J Endocrinol
  
  English (2017) Clinical Practice Guidelines for the Care of Girls and Women With Turner Syndrome - Pediatrics
  
  English (2024) Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting - Eur J Endocrinol
  
  English (2022) 'Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)' - Orphanet J Rare Dis
- Review article
  English (2018) A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment - Intractable Rare Dis Res
  
  Español (2019.pdf) - Asoc Española de Pediatría
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Turner syndrome due to structural X chromosome anomalies
- 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 (2024) Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2018) A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment - Intractable Rare Dis Res
Type 1 interferonopathy
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
Type 2 collagen-related bone disorder
- Clinical practice guidelines
  English (2019) Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders - Genet Med
Typical nemaline myopathy
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  English (2012) Consensus Statement on Standard of Care for Congenital Myopathies - J Child Neurol
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Typical urticaria pigmentosa
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Tyrosinemia type 1
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Protocole d'urgence - insuffisance hépatique néonatale - G2M
  
  English (2022.pdf) Protocol for tyrosinemia type 1 - G2M
- Clinical practice guidelines
  Français (2022) Tyrosinémie type 1 (HT-1) - PNDS
  
  English (2013) Recommendations for the management of tyrosinaemia type 1 - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) - GeneReviews
Tyrosinemia type 2
- Clinical genetics review
  English (2024) Tyrosinemia Type II - GeneReviews

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