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O'Sullivan-McLeod syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Obesity due to CEP19 deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Obesity due to congenital leptin deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Obesity due to congenital leptin resistance
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Obesity due to leptin receptor gene deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Obesity due to melanocortin 4 receptor deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Obesity due to pro-opiomelanocortin deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
- Clinical genetics review
  English (2013) - GeneReviews
Obesity due to prohormone convertase I deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Obesity due to SIM1 deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Occipital horn syndrome
- Clinical practice guidelines
  Français (2024) Maladie de Menkes et autres maladies du métabolisme du cuivre, hors maladie de Wilson - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
Ocular albinism
- Article for general public
  Español (2018) - ALBA
  
  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 (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
Ocular albinism with late-onset sensorineural deafness
- Article for general public
  Español (2018) - ALBA
  
  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 (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
Ocular anomalies-axonal neuropathy-developmental delay syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Ocular cystinosis
- Article for general public
  English (2017) - Cystinosis United
  
  Svenska (2017) - Socialstyrelsen
- Clinical practice guidelines
  Français (2018) Cystinose - PNDS
  
  English (2019) Management of bone disease in cystinosis: Statement from an international conference - J Inherit Metab Dis
  
  Español (2015) - Nefrologia
- Review article
  English (2016) Cystinosis: a review - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Cystinosis - 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
Oculo-auriculo-vertebral spectrum
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Aplasie majeure doreille - PNDS
  
  English (2020) European Guideline Craniofacial Microsomia - J Craniofac Surg
- Clinical genetics review
  English (2014) - GeneReviews
Oculoauricular syndrome, Schorderet type
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Oculoauriculofrontonasal syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Oculoauriculovertebral spectrum with radial defects
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Aplasie majeure doreille - PNDS
Oculocerebral hypopigmentation syndrome, Cross type
- Article for general public
  Español (2018) - ALBA
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Oculocerebral hypopigmentation syndrome, Preus type
- Article for general public
  Español (2018) - ALBA
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Oculocerebrocutaneous syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Oculocerebrofacial syndrome, Kaufman type
- Clinical genetics review
  English (2022) - GeneReviews
Oculocerebrorenal syndrome of Lowe
- Article for general public
  Français (2014.pdf) - Orphanet
  
  Español (2014.pdf) - CIBERER
  
  Svenska (2022) - Socialstyrelsen
  
  Italiano (2014.pdf) - CIBERER
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2016) The oculocerebrorenal syndrome of Lowe: an update - Pediatr Nephrol
- Clinical genetics review
  English (2019) Lowe Syndrome - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 1
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  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
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 1A
- 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
Oculocutaneous albinism type 1B
- 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
Oculocutaneous albinism type 2
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
  
  English (2012) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 3
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 4
- Article for general public
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
  
  English (2017) Oculocutaneous Albinism Type 4 - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 5
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 6
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 7
- Article for general public
  Français (2018) - Tous à l'école
  
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Albinisme - PNDS
  
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
  
  English (2014) - Eur J Hum Genet
Oculocutaneous albinism type 8
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  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
Oculocutaneous or ocular albinism
- Article for general public
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Oculodental syndrome, Rutherfurd type
- Review article
  English (2016) Gingival fibromatosis: clinical, molecular and therapeutic issues - Orphanet J Rare Dis
Oculoectodermal syndrome
- Anesthesia guidelines
  English (2022) - Orphananesthesia
Oculofaciocardiodental syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Oculogastrointestinal-neurodevelopmental syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Oculopharyngeal muscular dystrophy
- Article for general public
  Français (2009.pdf) - Orphanet
- Clinical practice guidelines
  Français (2022) Dystrophie musculaire oculopharyngée - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2014) Oculopharyngeal Muscular Dystrophy - GeneReviews
Oculoskeletodental syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Oculotrichoanal syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2019) FREM1 Autosomal Recessive Disorders - GeneReviews
Odontohypophosphatasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Hypophosphatasie - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Hypophosphatasie - PNDS
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hypophosphatasia - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Odontoleukodystrophy
- Clinical genetics review
  English (2017) POLR3-Related Leukodystrophy - GeneReviews
Okihiro syndrome
- Clinical genetics review
  English (2022) SALL4-Related Disorders - GeneReviews
Okihiro syndrome due to 20q13 microdeletion
- Clinical genetics review
  English (2022) SALL4-Related Disorders - GeneReviews
Okihiro syndrome due to a point mutation
- Clinical genetics review
  English (2022) SALL4-Related Disorders - GeneReviews
Oligoarticular juvenile idiopathic arthritis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2010.pdf) - Orphanet
  
  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 (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
  
  Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
  
  Français (2017) Arthrites Juvéniles Idiopathiques - PNDS
  
  Deutsch (2019) - AWMF
  
  English (2022) 2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis - Arthritis Rheumatol
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Diagnostic Keys
  Français (2022) Arthrite - Les clés du diagnostic
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Oligoastrocytic tumor
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Oligoastrocytoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Oligodendroglial tumor
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Oligodendroglioma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
- Clinical genetics review
  English (2022) POT1 Tumor Predisposition - GeneReviews
Oligodontia
- Clinical practice guidelines
  Français (2021) Agénésies dentaires multiples : oligodontie et anodontie - PNDS
- Clinical genetics review
  English (2021) Nonsyndromic Tooth Agenesis Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Oligomeganephronia
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Ollier disease
- Article for general public
  Svenska (2023) - Socialstyrelsen
- Review article
  English (2006) - Orphanet J Rare Dis
Omenn syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
- Emergency guidelines
  Français (2020.pdf) Hernie de coupole diaphragmatique - Orphanet Urgences
Open spinal dysraphism
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
  
  Français (2020) Dysraphisme spinal (Spina Bifida) - prise en charge urologique à l'âge adulte - PNDS
Open spinal dysraphism with a myelomeningocele
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
  
  Français (2020) Dysraphisme spinal (Spina Bifida) - prise en charge urologique à l'âge adulte - PNDS
Open spinal dysraphism with a posterior meningocele
- 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
Opitz GBBB syndrome
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical genetics review
  English (2023) MID1-Related Opitz G/BBB Syndrome - GeneReviews
Opsoclonus-myoclonus syndrome
- Article for general public
  Svenska (2023) - Socialstyrelsen
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
Optic atrophy-intellectual disability syndrome
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
- Clinical genetics review
  English (2022) NR2F1-Related Neurodevelopmental Disorder - GeneReviews
  
  English (2022) NR2F1-Related Neurodevelopmental Disorder - GeneReviews
Orgasm-induced seizures
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Ornithine transcarbamylase deficiency
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Ornithine Transcarbamylase Deficiency - GeneReviews
Orofaciodigital syndrome type 1
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2020) Syndrome oro-facio-digital de type I - PNDS
  
  Français (2020) Syndrome oro-facio-digital de type I - PNDS
- Clinical genetics review
  English (2023) Oral-Facial-Digital Syndrome Type I - GeneReviews
Orofaciodigital syndrome type 14
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Deutsch (2019) - AWMF
Orofaciodigital syndrome type 2
- Article for general public
  Svenska (2024) - Socialstyrelsen
Orofaciodigital syndrome type 6
- 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
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Syndrome de Joubert - PNDS
  
  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 (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) Joubert Syndrome - GeneReviews
Osgood-Schlatter disease
- 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
Ossification anomalies-psychomotor developmental delay syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteochondrosis
- 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
Osteochondrosis of the tarsal bone
- 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
Osteocraniostenosis
- Clinical genetics review
  English (2023) FAM111A-Related Skeletal Dysplasias - GeneReviews
Osteogenesis imperfecta
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
  
  Polski (2008.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
  
  Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
  
  Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
  
  Português (2008.pdf) Osteogénese Imperfeita - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Ostéogenèse imparfaite - PNDS
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Review article
  Français (2007.pdf) - Press Med
- Clinical genetics review
  English (2021) COL1A1/2 Osteogenesis Imperfecta - 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
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Osteogenesis imperfecta type 1
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
  
  Polski (2018.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
  
  Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
  
  Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
  
  Português (2008.pdf) Osteogenese imperfeita - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Ostéogenèse imparfaite - PNDS
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Clinical genetics review
  English (2021) COL1A1/2 Osteogenesis Imperfecta - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteogenesis imperfecta type 2
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
  
  Polski (2018.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
  
  Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
  
  Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
  
  Português (2008.pdf) Osteogenese imperfeita - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Ostéogenèse imparfaite - PNDS
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Clinical genetics review
  English (2021) COL1A1/2 Osteogenesis Imperfecta - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteogenesis imperfecta type 3
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
  
  Polski (2018.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
  
  Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
  
  Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
  
  Português (2008.pdf) Osteogenese imperfeita - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Ostéogenèse imparfaite - PNDS
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Clinical genetics review
  English (2021) COL1A1/2 Osteogenesis Imperfecta - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteogenesis imperfecta type 4
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
  
  Polski (2018.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
  
  Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
  
  Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
  
  Português (2008.pdf) Osteogenese imperfeita - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Ostéogenèse imparfaite - PNDS
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Clinical genetics review
  English (2021) COL1A1/2 Osteogenesis Imperfecta - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteogenesis imperfecta type 5
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ostéogenèse imparfaite - Orphanet Urgences
  
  Polski (2018.pdf) Wrodzona lamliwosc kosci - Orphanet Urgences
  
  Deutsch (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  English (2008.pdf) Osteogenesis imperfecta (OI) - Orphanet Urgences
  
  Español (2008.pdf) Osteogénesis imperfecta (OI) - Orphanet Urgences
  
  Italiano (2008.pdf) Osteogenesi imperfetta (OI) - Orphanet Urgences
  
  Português (2008.pdf) Osteogenese imperfeita - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Ostéogenèse imparfaite - PNDS
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteoglosphonic dysplasia
- Clinical genetics review
  English (2024) Osteoglophonic Dysplasia - GeneReviews
Osteomesopyknosis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Osteopathia striata-cranial sclerosis syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Osteopathia Striata with Cranial Sclerosis - GeneReviews
Osteopenia-intellectual disability-sparse hair syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteopetrosis and related disorders
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
Osteopetrosis with renal tubular acidosis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2022) Déficit en Anhydrase carbonique - G2M
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
Osteopetrosis-hypogammaglobulinemia syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Osteoporosis-oculocutaneous hypopigmentation syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteoporosis-pseudoglioma syndrome
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Osteosarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2018) Bone sarcomas: ESMO-PaedCan-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2021) Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes - Eur J Hum Genet
- Review article
  Deutsch (2023) - Onkopedia
  
  English (2017) - PDQ Cancer Inf Sum
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Other immunodeficiency syndrome with predominantly antibody defects
- Emergency guidelines
  Français (2020.pdf) Déficits immunitaires humoraux chez ladulte - Orphanet Urgences
- 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
Other immunodeficiency syndromes due to defects in innate immunity
- 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
Otodental syndrome
- Review article
  English (2006) - Orphanet J Rare Dis
Otopalatodigital syndrome spectrum disorder
- Clinical genetics review
  English (2019) - GeneReviews
Otopalatodigital syndrome type 1
- Clinical genetics review
  English (2019) - GeneReviews
Otopalatodigital syndrome type 2
- Clinical genetics review
  English (2019) - GeneReviews
Ovarian dysgerminoma
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  English (2012) Malignant ovarian germ-cell tumours - Best Pract Res Clin Obstet Gynaecol
Ovarioleukodystrophy
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2024) AARS2-Related Disorder - GeneReviews
Overhydrated hereditary stomatocytosis
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Overlap myositis
- Article for general public
  Français (2014) - SNFMI
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Oxoglutaric aciduria
- Clinical practice guidelines
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol

Knowledge on rare diseases and orphan drugs

Encyclopaedia

ALPHABETICAL LIST

ALPHABETICAL LIST

ORPHANET USER SATISFACTION SURVEY 2025