Orphanet : Diseases

ALPHABETICAL LIST

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Other search option(s)

Search by disease

Machado-Joseph disease type 1
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2014.pdf) - Orphanet
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2011.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Spinocerebellar Ataxia Type 3 - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Machado-Joseph disease type 2
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2014.pdf) - Orphanet
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2011.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Spinocerebellar Ataxia Type 3 - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Machado-Joseph disease type 3
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2014.pdf) - Orphanet
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2011.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Spinocerebellar Ataxia Type 3 - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Macrocephaly-developmental delay syndrome
- Clinical genetics review
  English (2024) KPTN-Related Disorder - GeneReviews
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Article for general public
  Español (2022.pdf) Síndrome de DI ligado a X asociado a NONO - Unique
  
  Русский (2021.pdf) NONO-associated X-linked ID syndrome - Unique
Macrocephaly-spastic paraplegia-dysmorphism syndrome
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Macrocystic lymphatic malformation
- Clinical practice guidelines
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
Macrodactyly of fingers, unilateral
- Clinical genetics review
  English (2023) PIK3CA-Related Segmental Overgrowth - GeneReviews
Macrodactyly of toes, unilateral
- Clinical genetics review
  English (2023) PIK3CA-Related Segmental Overgrowth - GeneReviews
Macrophage activation syndrome
- Anesthesia guidelines
  English (2021) - Orphananesthesia
  
  Español (2021) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Español (2020.pdf) - Asoc Española de Pediatría
- Review article
  Deutsch (2020) - Onkopedia
Macrosomia-microphthalmia-cleft palate 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
Macrothrombocytopenia with mitral valve insufficiency
- 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
Macular coloboma-cleft palate-hallux valgus syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Macular corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Maculopapular cutaneous mastocytosis
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Madras motor neuron disease
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
MAGIC syndrome
- Emergency guidelines
  Français (2019.pdf) Polychondrite atrophiante - Orphanet Urgences
Majeed syndrome
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  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
- Clinical genetics review
  English (2023) LPIN2-Related Majeed Syndrome - GeneReviews
Malan overgrowth syndrome
- Clinical genetics review
  English (2024) NFIX-Related Malan Syndrome - GeneReviews
Malaria
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2015) - WHO
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Clinical practice guidelines
  English (2022) ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria - J Cyst Fibros
Malformation syndrome with short stature
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Malignant atrophic papulosis
- Review article
  English (2013) - Orphanet J Rare Dis
Malignant epithelial tumor of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
Malignant epithelial tumor of salivary glands
- Article for general public
  Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
Malignant germ cell tumor of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  English (2012) - Best Pract Res Clin Obstet Gynaecol
Malignant germ cell tumor of the cervix uteri
- Article for general public
  Français (2011) - INCa
Malignant germ cell tumor of the corpus uteri
- Article for general public
  Français (2013) - INCa
Malignant germ cell tumor of the vagina
- Clinical practice guidelines
  Deutsch (2015) - AWMF
Malignant granulosa cell tumor of the ovary
- 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
Malignant hyperthermia of anesthesia
- Article for general public
  Deutsch (2020.pdf) Maligne Hyperthermie - Universitätsklinikum Würzburg
  
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Rhabdomyolyse par mutation du gène RYR1 - G2M
  
  Français (2017.pdf) Hyperthermie maligne de l'anesthésie - Orphanet Urgences
  
  Polski (2013.pdf) Hipertermia zlosliwa - Orphanet Urgences
  
  English (2022.pdf) Severe rhabdomyolysis and malignant hyperthermia (RYR1 mutations and related genes) - G2M
  
  English (2013.pdf) Malignant hyperthermia - Orphanet Urgences
  
  Español (2013.pdf) Hipertermia maligna - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Português (2014) - Orphananesthesia
- Review article
  English (2015) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Malignant Hyperthermia Susceptibility - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Malignant mixed epithelial and mesenchymal tumor of cervix uteri
- Article for general public
  Français (2011) - INCa
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Malignant mixed epithelial and mesenchymal tumor of corpus uteri
- Article for general public
  Français (2013) - INCa
Malignant mixed Müllerian tumor of the ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Malignant non-dysgerminomatous germ cell tumor of ovary
- 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
Malignant non-epithelial tumor of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
  
  English (2018) Non-epithelial ovarian cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Malignant peripheral nerve sheath tumor
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
Malignant peripheral nerve sheath tumor with perineurial differentiation
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Malignant peritoneal mesothelioma
- Clinical practice guidelines
  English (2021) Peritoneal mesothelioma: PSOGI/EURACAN clinical practice guidelines for diagnosis, treatment and follow-up - Eur J Surg Oncol
Malignant Sertoli-Leydig cell tumor of the ovary
- 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
Malignant sex cord stromal tumor of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2012) Management of Ovarian and Testicular Sex Cord-stromal Tumors in Children and Adolescents - J Pediatr Hematol Oncol
Malignant teratoma of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
Malignant triton tumor
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
Malignant tumor of penis
- Clinical practice guidelines
  English (2021) Management of penile cancer patients during the COVID-19 pandemic: An eUROGEN accelerated Delphi consensus study - Urol Oncol
Malposition of a coronary ostium
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
MAN1B1-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
- Guidance for genetic testing
  English (2015) - Eur J Hum Genet
Mandibuloacral dysplasia
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Mandibuloacral dysplasia with type A lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Mandibuloacral dysplasia with type B lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Mandibulofacial dysostosis-microcephaly syndrome
- Clinical genetics review
  English (2023) Mandibulofacial Dysostosis with Microcephaly - GeneReviews
Mantle cell lymphoma
- Article for general public
  Deutsch (2021) - Onkopedia
- Clinical practice guidelines
  English (2018) Guideline for the management of mantle cell lymphoma - Br J Haematol
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2019) Mantle cell lymphoma: 2019 update on the diagnosis, pathogenesis, prognostication, and management - Am J Hematol
Maple syrup urine disease
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Emergency guidelines
  Français (2022) Leucinose (MSUD) - G2M
  
  Français (2023) Coma et maladies héréditaires du métabolisme - G2M
  
  Français (2020.pdf) Maladie des urines sirop d'érable - Orphanet Urgences
  
  English (2022.pdf) Maple syrup urine disease (MSUD) - G2M
  
  English (2023.pdf) COMA and inherited metabolic diseases (new patient) - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (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
Marburg acute multiple sclerosis
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Deutsch (2023) - AWMF
Marden-Walker syndrome
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
Marfan syndrome
- Article for general public
  Suomi (2016.pdf) - FDP
  
  Français (2019.pdf) - Fondation Groupama
  
  Deutsch (2021) - ÄZQ
  
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2017.pdf) Syndrome de Marfan et syndromes apparentés - Orphanet Urgences
  
  Polski (2007.pdf) Zespol Marfana - Orphanet Urgences
  
  Deutsch (2014.pdf) Marfan-Syndrom - Orphanet Urgences
  
  English (2007.pdf) Marfan Syndrome - Orphanet Urgences
  
  Español (2007.pdf) Síndrome de Marfan - Orphanet Urgences
  
  Italiano (2007.pdf) Marfan (Sindrome di Marfan) - Orphanet Urgences
  
  Português (2007.pdf) Síndrome Marfan - Orphanet Urgences
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2018) Syndrome de Marfan et apparentés - PNDS
  
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
  
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
- Review article
  English (2019) Marfan syndrome: improved clinical history results in expanded natural history - Genet Med
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2017) - GeneReviews
- Diagnostic criteria
  English (2010) The revised Ghent nosology for the Marfan syndrome - J Med Genet
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2016.pdf) - Orphanet
  
  Dansk (2018) - Sjaeldne Diagnoser
Marfan syndrome and Marfan-related disorders
- Article for general public
  Français (2019.pdf) - Fondation Groupama
- Emergency guidelines
  Français (2017.pdf) Syndrome de Marfan et syndromes apparentés - Orphanet Urgences
  
  Polski (2007.pdf) Zespol Marfana - Orphanet Urgences
  
  Deutsch (2014.pdf) Marfan-Syndrom - Orphanet Urgences
  
  English (2007.pdf) Marfan Syndrome - Orphanet Urgences
  
  Español (2007.pdf) Síndrome de Marfan - Orphanet Urgences
  
  Italiano (2007.pdf) Marfan (Sindrome di Marfan) - Orphanet Urgences
  
  Português (2007.pdf) Síndrome Marfan - Orphanet Urgences
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2018) Syndrome de Marfan et apparentés - PNDS
Marfan syndrome type 1
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
  
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2017.pdf) Syndrome de Marfan et syndromes apparentés - Orphanet Urgences
  
  Polski (2007.pdf) Zespol Marfana - rphanet Urgences
  
  Deutsch (2014.pdf) Marfan-Syndrom - Orphanet Urgences
  
  English (2007.pdf) Marfan Syndrome - Orphanet Urgences
  
  Español (2007.pdf) Síndrome de Marfan - Orphanet Urgences
  
  Italiano (2007.pdf) Marfan (Sindrome di Marfan) - Orphanet Urgences
  
  Português (2007.pdf) Síndrome Marfan - Orphanet Urgences
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2018) Syndrome de Marfan et apparentés - PNDS
  
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
  
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
- Review article
  English (2019) Marfan syndrome: improved clinical history results in expanded natural history - Genet Med
- Clinical genetics review
  English (2022) - GeneReviews
- Diagnostic criteria
  English (2010) The revised Ghent nosology for the Marfan syndrome - J Med Genet
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2016.pdf) - Orphanet
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Marfan syndrome type 2
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2017.pdf) Syndrome de Marfan et syndromes apparentés - Orphanet Urgences
  
  Polski (2007.pdf) Zespol Marfana - Orphanet Urgences
  
  Deutsch (2014.pdf) Marfan-Syndrom - Orphanet Urgences
  
  English (2007.pdf) Marfan Syndrome - Orphanet Urgences
  
  Español (2007.pdf) Síndrome de Marfan - Orphanet Urgences
  
  Italiano (2007.pdf) Marfan (Sindrome di Marfan) - Orphanet Urgences
  
  Português (2007.pdf) Síndrome Marfan - Orphanet Urgences
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2018) Syndrome de Marfan et apparentés - PNDS
  
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
  
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
- Review article
  English (2019) Marfan syndrome: improved clinical history results in expanded natural history - Genet Med
- Clinical genetics review
  English (2018) Loeys-Dietz Syndrome - GeneReviews
Marinesco-Sjögren 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 (2019) - GeneReviews
Marshall-Smith syndrome
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
MASA syndrome
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Review article
  English (2021) - GeneReviews
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Mast cell leukemia
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Review article
  English (2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management - Am J Hematol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mast cell sarcoma
- Article for general public
  Deutsch (2018.pdf) - ÄZQ
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Mastocytosis
- Article for general public
  Deutsch (2023.pdf) - Kindernetzwerk e.V.
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Maternal phenylketonuria syndrome
- Article for general public
  Français (2012.pdf) - Orphanet
- Clinical genetics review
  English (2017) Phenylalanine Hydroxylase Deficiency - GeneReviews
Matthew-Wood 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
Mayer-Rokitansky-Küster-Hauser syndrome
- Clinical practice guidelines
  Français (2021) Aplasies Utero-Vaginales - Syndrome de Mayer-Rokitansky-Kuster-Hauser - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  English (2007) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mayer-Rokitansky-Küster-Hauser syndrome type 1
- Clinical practice guidelines
  Français (2021) Aplasies Utero-Vaginales - Syndrome de Mayer-Rokitansky-Kuster-Hauser - PNDS
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Clinical practice guidelines
  Français (2021) Aplasies Utero-Vaginales - Syndrome de Mayer-Rokitansky-Kuster-Hauser - PNDS
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
McCune-Albright syndrome
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2016.pdf) Syndrome McCune-Albright - Orphanet Urgences
  
  Español (2018.pdf) Síndrome de McCune-Albright - Orphanet Urgences
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  Français (2022) Dysplasie et syndrome de McCune-Albright - PNDS
  
  English (2019) Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium - Orphanet J Rare Dis
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Fibrous Dysplasia / McCune-Albright Syndrome - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
McKusick-Kaufman syndrome
- Clinical genetics review
  English (2020) - GeneReviews
McLeod neuroacanthocytosis syndrome
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Meckel syndrome
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
MECP2-related severe neonatal encephalopathy
- Clinical genetics review
  English (2019) MECP2-Related Disorders - GeneReviews
Medial condensing osteitis of the clavicle
- 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
Medich giant platelet syndrome
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
Medium chain acyl-CoA dehydrogenase deficiency
- Article for general public
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
  
  Svenska (2021) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2021.pdf) Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne (MCAD) - Orphanet Urgences
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2022) Déficits Oxydation acides gras : MCAD - G2M
  
  English (2022.pdf) Mitochondrial fatty acid ß-oxidation disorders - G2M
  
  English (2022.pdf) Recurrent undiagnosed hypoglycaemia - G2M
  
  English (2023.pdf) Hypoglycaemia in A&E (no diagnosis known) - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2019) - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
MEDNIK syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  Français (2024) Maladie de Menkes et autres maladies du métabolisme du cuivre, hors maladie de Wilson - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Medullary sponge kidney
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Medullary thyroid carcinoma
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  English (2019) Thyroid cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2015) Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma - Thyroid
Medulloblastoma
- Clinical practice guidelines
  Deutsch (2018) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
  
  English (2019) EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma - Lancet Oncol
Medulloblastoma with extensive nodularity
- Clinical practice guidelines
  English (2019) EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma - Lancet Oncol
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Meesmann corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Megaconial congenital muscular dystrophy
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2023) CHKB-Related Muscular Dystrophy - GeneReviews
  
  English (2012) - GeneReviews
Megacystis-megaureter syndrome
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Megacystis-microcolon-intestinal hypoperistalsis syndrome
- Clinical genetics review
  English (2019) Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview - GeneReviews
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  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
Megalencephalic leukoencephalopathy with subcortical cysts
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2023) Megalencephalic Leukoencephalopathy with Subcortical Cysts - GeneReviews
Megalencephaly-capillary malformation-polymicrogyria syndrome
- Clinical practice guidelines
  Français (2021) Syndrome MCAP (Megalencephaly-Capillary malformation-Polymicrogyria) - PNDS
  
  Français (2021) Syndrome MCAP (Megalencephaly-Capillary malformation-Polymicrogyria) - PNDS
  
  Français (2021) Syndrome MCAP (Megalencephaly-Capillary malformation-Polymicrogyria) - PNDS
- Clinical genetics review
  English (2023) PIK3CA-Related Overgrowth Spectrum - GeneReviews
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Article for general public
  English (2015.pdf) MPPH Syndrome - Unique
  
  Русский (2015.pdf) MPPH Syndrome - Unique
- Clinical genetics review
  English (2022) - GeneReviews
MEGDEL syndrome
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Clinical genetics review
  English (2020) SERAC1 Deficiency - GeneReviews
MEHMO syndrome
- 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
Meige disease
- Article for general public
  Français (2007.pdf) - Orphanet
- Disability factsheet
  Français (2018.pdf) - Orphanet
MELAS
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2018) - Orphananesthesia
  
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Maladies mitochondriales apparentées au MELAS - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
- Clinical genetics review
  English (2018) MELAS - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Melnick-Needles syndrome
- Clinical genetics review
  English (2019) - GeneReviews
Melorheostosis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
Melorheostosis with osteopoikilosis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
MEND syndrome
- Clinical practice guidelines
  Français (2022) Chondrodysplasies ponctuées : déficit de la biosynthèse du cholestérol et déficit en arylsulfatase E. - PNDS
Mendelian susceptibility to mycobacterial diseases
- 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
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
Meningococcal meningitis
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Menkes disease
- Clinical practice guidelines
  Français (2024) Maladie de Menkes et autres maladies du métabolisme du cuivre, hors maladie de Wilson - PNDS
  
  English (2019) A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease - Mol Genet Metab
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2021) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
MEPAN syndrome
- Clinical genetics review
  English (2019) - GeneReviews
MERRF
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
  
  Svenska (2021) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Epilepsies myocloniques progressives (EMP) - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2018) - Orphananesthesia
  
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
- Clinical genetics review
  English (2021) MERRF - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Mesial temporal lobe epilepsy with hippocampal sclerosis
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Mesoaxial synostotic syndactyly with phalangeal reduction
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Mesocardia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Metachromatic leukodystrophy
- Article for general public
  Deutsch (2022) - ACHSE
  
  Svenska (2017) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2011) Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals - Genet Med
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Metachromatic leukodystrophy, adult form
- Article for general public
  Deutsch (2022) - ACHSE
  
  Svenska (2017) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Metachromatic leukodystrophy, juvenile form
- Article for general public
  Deutsch (2022) - ACHSE
  
  Svenska (2017) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Metachromatic leukodystrophy, late infantile form
- Article for general public
  Deutsch (2022) - ACHSE
  
  Svenska (2017) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Metaphyseal chondrodysplasia, Schmid type
- Clinical genetics review
  English (2019) Schmid Metaphyseal Chondrodysplasia - GeneReviews
Metaplastic carcinoma of the breast
- Article for general public
  Français (2013) - INCa
Metatropic dysplasia
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical genetics review
  English (2020) - GeneReviews
Methylcobalamin deficiency type cblE
- Clinical genetics review
  English (2021) - GeneReviews
Methylcobalamin deficiency type cblG
- Review article
  English (2012) Thrombotic microangiopathy and associated renal disorders - Nephrol Dial Transplant
- Clinical genetics review
  English (2021) - GeneReviews
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
Methylmalonic acidemia with homocystinuria
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
Methylmalonic acidemia with homocystinuria type cblF
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Methylmalonic acidemia with homocystinuria, type cblC
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  English (2022.pdf) Protocol for Cobalamin C deficiency (cblC) - G2M
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Methylmalonic acidemia with homocystinuria, type cblD
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Disorders of Intracellular Cobalamin Metabolism - GeneReviews
  
  English (2022) - GeneReviews
Methylmalonic acidemia with homocystinuria, type cblJ
- Article for general public
  Français (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Methylmalonic acidemia with homocystinuria, type cblX
- Article for general public
  Français (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Disorders of Intracellular Cobalamin Metabolism - GeneReviews
Methylmalonic acidemia without homocystinuria
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (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
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
  
  English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
  
  English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Methylmalonic aciduria due to transcobalamin receptor defect
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
Mevalonate kinase deficiency
- 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
- Clinical practice guidelines
  Français (2015) Déficit en mévalonate kinase (MKD) - PNDS
- Review article
  Français (2008) - Médecine thérapeutique / Pédiatrie
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2012) Guidelines for the genetic diagnosis of hereditary recurrent fevers - Ann Rheum Dis
Mevalonic aciduria
- Clinical practice guidelines
  Français (2015) Déficit en mévalonate kinase (MKD) - PNDS
- Review article
  Français (2008) - Médecine thérapeutique / Pédiatrie
  
  English (2006) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
MGAT2-CDG
- Clinical genetics review
  English (2017) - GeneReviews
Micro syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
  
  Deutsch (2019) - AWMF
- Review article
  English (2006.pdf) - Orphanet
- Clinical genetics review
  English (2018) RAB18 Deficiency - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Clinical genetics review
  English (2020) Saul-Wilson Syndrome - GeneReviews
Microcephalic osteodysplastic primordial dwarfism type II
- Clinical genetics review
  English (2023) Microcephalic Osteodysplastic Primordial Dwarfism Type II - GeneReviews
Microcephalic osteodysplastic primordial dwarfism types I and III
- Clinical genetics review
  English (2023) RNU4atac-opathy - GeneReviews
Microcephalic primordial dwarfism
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Microcephalic primordial dwarfism-insulin resistance syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Microcephaly-brain defect-spasticity-hypernatremia syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Microcephaly-capillary malformation syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
Microcephaly-cardiomyopathy syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Microcephaly-cervical spine fusion anomalies syndrome
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
- Clinical genetics review
  English (2022) PPP2R1A-Related Neurodevelopmental Disorder - GeneReviews
Microcephaly-lymphedema-chorioretinopathy syndrome
- Clinical practice guidelines
  Deutsch (2017) - AWMF
  
  Deutsch (2019) - AWMF
Microcephaly-microcornea syndrome, Seemanova type
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Microcystic lymphatic malformation
- Clinical practice guidelines
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
Microduplication Xp11.22p11.23 syndrome
- Article for general public
  English (2019.pdf) IQSEC2-related Disorder - Unique
  
  Español (2021.pdf) Trastorno asociado a IQSEC2 - Unique
  
  Русский (2019.pdf) IQSEC2-related Disorder - Unique
Microform holoprosencephaly
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Clinical genetics review
  English (2023) TRIO-Related Neurodevelopmental Disorder - GeneReviews
Microphthalmia with brain and digit anomalies
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  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
Microphthalmia with limb anomalies
- 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
Microphthalmia with linear skin defects syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Microphthalmia, Lenz type
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2014) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Microphthalmia-ankyloblepharon-intellectual disability 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
Microphthalmia-anophthalmia-coloboma
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Clinical genetics review
  English (2015) - GeneReviews
Microphthalmia-brain atrophy 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
Microphthalmia-microtia-fetal akinesia syndrome
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- 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
Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen 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
  
  English (2017) - Eur J Hum Genet
Microscopic polyangiitis
- 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 (2015.pdf) - Orphanet
  
  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 (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  Deutsch (2024) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2020) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis - Arthritis Rheumatol
  
  English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
Microtia
- Review article
  English (2011) Microtia: epidemiology and genetics - Am J Med Genet
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Microvillus inclusion disease
- Review article
  English (2006) - Orphanet J Rare Dis
Micturation-induced seizures
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Middle aortic syndrome
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2018) - AWMF
Middle ear neuroendocrine tumor
- Article for general public
  Français (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
Midline interhemispheric variant of holoprosencephaly
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Mikati-Najjar-Sahli syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Mild Canavan disease
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2018) - GeneReviews
Mild hemophilia A
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia A - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Mild hemophilia B
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia B - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2012) - Eur J Hum Genet
Mild hyperphenylalaninemia
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Phénylcétonurie - Orphanet Urgences
  
  Español (2019.pdf) Fenilcetonuria - Orphanet Urgences
- Clinical practice guidelines
  Français (2018) Phénylcétonurie - PNDS
  
  English (2021) Italian national consensus statement on management and pharmacological treatment of phenylketonuria - Orphanet J Rare Dis
  
  English (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Phenylalanine Hydroxylase Deficiency - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mild phenylketonuria
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2014.pdf) Phénylcétonurie - Orphanet Urgences
  
  Español (2019.pdf) Fenilcetonuria - Orphanet Urgences
- Clinical practice guidelines
  Français (2018) Phénylcétonurie - PNDS
  
  English (2021) Italian national consensus statement on management and pharmacological treatment of phenylketonuria - Orphanet J Rare Dis
  
  English (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) Phenylalanine Hydroxylase Deficiency - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mild phosphoribosylpyrophosphate synthetase superactivity
- Clinical genetics review
  English (2022) Phosphoribosylpyrophosphate Synthetase Superactivity - GeneReviews
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- Clinical genetics review
  English (2019) - GeneReviews
Miller Fisher syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Miller-Dieker syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical genetics review
  English (2021) PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia - GeneReviews
Mills syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Milroy disease
- Article for general public
  Français (2007.pdf) - Orphanet
- Clinical practice guidelines
  Deutsch (2017) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Minimal pigment 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
MIRAGE syndrome
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
- Clinical genetics review
  English (2020) MIRAGE Syndrome - GeneReviews
MiT family translocation renal cell carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Mitochondrial disease
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2022) Maladie mitochondriale - Cytopathie mitochondriale - G2M
  
  Français (2023) Coma et maladies héréditaires du métabolisme - G2M
  
  English (2022.pdf) Mitochondrial disease - mitochondrial cytopathy - G2M
  
  English (2023.pdf) COMA and inherited metabolic diseases (new patient) - G2M
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial disease with dilated cardiomyopathy
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Mitochondrial disease with epilepsy
- 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
Mitochondrial disease with hypertrophic cardiomyopathy
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) Mitochondrial Disorders Overview - GeneReviews
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
- Clinical genetics review
  English (2021) Mitochondrial Disorders Overview - GeneReviews
Mitochondrial DNA depletion syndrome
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial DNA depletion syndrome, encephalomyopathic form
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) Primary Mitochondrial Disorders Overview - GeneReviews
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Clinical genetics review
  English (2023) SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria - GeneReviews
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Clinical genetics review
  English (2021) Mitochondrial Disorders Overview - GeneReviews
  
  English (2021) RRM2B Mitochondrial DNA Maintenance Defects - GeneReviews
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
- Clinical genetics review
  English (2021) Mitochondrial Disorders Overview - GeneReviews
  
  English (2017) FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome - GeneReviews
Mitochondrial DNA depletion syndrome, hepatocerebral form
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Clinical genetics review
  English (2023) Deoxyguanosine Kinase Deficiency - GeneReviews
Mitochondrial DNA depletion syndrome, myopathic form
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
- Clinical genetics review
  English (2021) Mitochondrial Disorders Overview - GeneReviews
  
  English (2018) - GeneReviews
Mitochondrial DNA maintenance syndrome
- Clinical genetics review
  English (2018) Mitochondrial DNA Maintenance Defects Overview - GeneReviews
Mitochondrial DNA-associated Leigh syndrome
- Anesthesia guidelines
  Deutsch (2018) - Orphananesthesia
  
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical genetics review
  English (2023) Mitochondrial DNA-Associated Leigh Syndrome and NARP - GeneReviews
Mitochondrial DNA-related cardiomyopathy and hearing loss
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Mitochondrial DNA-related dystonia
- Clinical genetics review
  English (2017) - GeneReviews
Mitochondrial DNA-related progressive external ophthalmoplegia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
- Clinical genetics review
  English (2023) Single Large-Scale Mitochondrial DNA Deletion Syndromes - GeneReviews
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Mitochondrial membrane protein-associated neurodegeneration
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Clinical practice guidelines
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
  
  English (2021) Mitochondrial Membrane Protein-Associated Neurodegeneration - GeneReviews
Mitochondrial membrane transport disorder
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial myopathy
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
Mitochondrial myopathy and sideroblastic anemia
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy 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 (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
  
  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
Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
Mitochondrial neurogastrointestinal encephalomyopathy
- Emergency guidelines
  Français (2019.pdf) Pseudo-obstruction intestinale chronique (POIC) - Orphanet Urgences
- Clinical practice guidelines
  Français (2025) Encéphalopathie Mitochondriale Neuro-Gastro-Intestinale (MNGIE) - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
- Clinical genetics review
  English (2016) Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews
  
  English (2018) POLG-Related Disorders - GeneReviews
  
  English (2021) RRM2B Mitochondrial DNA Maintenance Defects - GeneReviews
Mitochondrial oxidative phosphorylation disorder
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
- Clinical genetics review
  English (2023) Single Large-Scale Mitochondrial DNA Deletion Syndromes - GeneReviews
  
  English (2021) Mitochondrial Disorders Overview - GeneReviews
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
- Clinical genetics review
  English (2021) Primary Mitochondrial Disorders Overview - GeneReviews
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
- Clinical genetics review
  English (2021) Primary Mitochondrial Disorders Overview - GeneReviews
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial oxidative phosphorylation disorder with no known mechanism
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) Mitochondrial Disorders Overview - GeneReviews
Mitochondrial protein import disorder
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- Clinical genetics review
  English (2019) Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency - GeneReviews
Mitochondrial substrate carrier disorder
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Mitochondrial trifunctional protein deficiency
- Emergency guidelines
  Français (2023) Insuffisance hépatique néonatale - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2022) Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Rhabdomyolyse peu sévère chez un patient connu - G2M
  
  Français (2023) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
  
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
Mitral atresia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Mitral valve agenesis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Mixed connective tissue disease
- Article for general public
  Français (2009.pdf) - Orphanet
- Clinical practice guidelines
  Español (2020.pdf) - Asoc Española de Pediatría
- Diagnostic criteria
  English (2021) 2019 Diagnostic criteria for mixed connective tissue disease (MCTD): From the Japan research committee of the ministry of health, labor, and welfare for systemic autoimmune diseases - Mod Rheumatol
Mixed cryoglobulinemia type II
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2021) Cryoglobulinémies - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
Mixed cryoglobulinemia type III
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2021) Cryoglobulinémies - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
Mixed cystic lymphatic malformation
- Clinical practice guidelines
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  Français (2021) Malformations lymphatiques kystiques (MLK) - PNDS
  
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
Mixed functioning 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
Mixed germ cell tumor
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Mixed germ cell tumor of 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
Mixed neuronal-glial tumor
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Mixed phenotype acute leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2019) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mixed phenotype acute leukemia with t(v;11q23.3)
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mixed-type autoimmune hemolytic anemia
- Article for general public
  Français (2009.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS
  
  Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS
Miyoshi myopathy
- Clinical genetics review
  English (2021) Dysferlinopathy - GeneReviews
MME-related autosomal dominant Charcot Marie Tooth disease type 2
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
MMEP 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
Moderate and severe traumatic brain injury
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Moderate hemophilia A
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia A - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Moderate hemophilia B
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia B - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2012) - Eur J Hum Genet
Moderate multiminicore disease with hand involvement
- Anesthesia guidelines
  English (2012) - Orphananesthesia
  
  Español (2012) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Moderately-differentiated thymic neuroendocrine carcinoma
- Clinical practice guidelines
  English (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
MODY
- Clinical practice guidelines
  Français (2022) Diabètes monogéniques de type MODY - PNDS
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Moebius syndrome
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Português (2015) - Orphananesthesia
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
MOGS-CDG
- Clinical genetics review
  English (2017) - GeneReviews
Mohr-Tranebjaerg syndrome
- Clinical genetics review
  English (2019) Deafness-Dystonia-Optic Neuronopathy Syndrome - GeneReviews
MOMO syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Monomelic amyotrophy
- Review article
  English (2011) Hirayama disease - Neuroimaging Clin N Am
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Monosomy 13q14 syndrome
- Article for general public
  Tiếng Việt (2006.pdf) 13q deletions including RB1 - Unique
  
  Svenska (2018) - Socialstyrelsen
  
  Русский (2006.pdf) 13q Deletions Including RB1 - Unique
  
  Русский (2006.pdf) 13q Deletions Including RB1 - Unique
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Monosomy 13q34 syndrome
- Article for general public
  Svenska (2018) - Socialstyrelsen
Monosomy 18p syndrome
- Article for general public
  Polski (2014.pdf) Delecje 18p - Unique
  
  English (2016.pdf) 18p Deletions - Unique
  
  Español (2013.pdf) 18p Delecion Spanish - Unique
  
  Svenska (2018) - Socialstyrelsen
  
  Русский (2021.pdf) 18p Deletions - Unique
  
  Italiano (2012.pdf) La delezione del cromosoma 18p - Unique
- Review article
  English (2008) - Orphanet J Rare Dis
Monosomy 18q syndrome
- Article for general public
  Svenska (2024) - Socialstyrelsen
Monosomy 5p syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Monosomie 5p - PNDS
  
  Español (2010.pdf) - ECEMC
- Review article
  English (2006) - Orphanet J Rare Dis
Monosomy 9p syndrome
- Article for general public
  Français (2007.pdf) Délétions 9p - Unique
  
  English (2016.pdf) 9p Deletions - Unique
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
Monosomy 9q22.3 syndrome
- Clinical genetics review
  English (2014) - GeneReviews
Monosomy X 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 (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
Monostotic fibrous dysplasia
- Article for general public
  Français (2009.pdf) - Orphanet
- Emergency guidelines
  Français (2015.pdf) Dysplasie fibreuse des os - Orphanet Urgences
  
  Español (2017.pdf) Displasia ósea fibrosa - Orphanet Urgences
- Review article
  English (2012) - Orphanet J Rare Dis
Mosaic monosomy X 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 (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
Mosaic NF2-related schwannomatosis
- Clinical practice guidelines
  English (2022) Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Mosaic schwannomatosis
- Clinical practice guidelines
  English (2022) ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis - Eur J Hum Genet
  
  English (2022) Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation - Genet Med
Mosaic trisomy 14 syndrome
- Article for general public
  English (2008.pdf) Trisomy 14 Mosaicism - Unique
  
  Svenska (2019) - Socialstyrelsen
  
  Русский (2008.pdf) Trisomy 14 Mosaicism - Unique
Mosaic trisomy 16 syndrome
- Article for general public
  English (2019.pdf) Trisomy 16 Mosaic - Unique
Mosaic trisomy 20 syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
Mosaic trisomy 8 syndrome
- Article for general public
  Français (2008.pdf) Trisomie 8 En Mosaique - Unique
  
  Deutsch (2008.pdf) 8 Trisomie 8 Mosaik German - Unique
  
  English (2012.pdf) Trisomy 8 Mosaicism - Unique
  
  Español (2015.pdf) Trisomia 8 En Mosaico Spanish - Unique
  
  Nederlands (2012.pdf) Mozaiek Trisomie 8 - Unique
  
  Svenska (2019) - Socialstyrelsen
Mosaic trisomy 9 syndrome
- Article for general public
  Français (2007.pdf) 9p Deletions - Unique
  
  Deutsch (2008.pdf) 9 Trisomie 9 Mosaik German - Unique
  
  English (2011.pdf) Trisomy 9 Mosaicism - Unique
  
  Español (2011.pdf) 9 Mosaicismo De Trisomia 9 Spanish - Unique
  
  Svenska (2019) - Socialstyrelsen
  
  العربية (2018.pdf) Trisomy 9 Mosaicism - Unique
Motor neuron disease
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mounier-Kühn syndrome
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Bronchectasie de lenfant, diagnostic et prise en charge (hors mucoviscidose et dyskinésies ciliaires primitives) - PNDS
Mowat-Wilson syndrome
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome de Mowat-Wilson - PNDS
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mowat-Wilson syndrome due to a ZEB2 point mutation
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome de Mowat-Wilson - PNDS
Mowat-Wilson syndrome due to monosomy 2q22
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndrome de Mowat-Wilson - PNDS
Moyamoya angiopathy
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Italiano (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Maladie et syndrome de moyamoya de lenfant et de ladulte - PNDS
  
  English (2023) European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy Endorsed by Vascular European Reference Network (VASCERN) - Eur Stroke J
- Review article
  English (2015) Moyamoya disease and syndromes: from genetics to clinical management - Appl Clin Genet
- Disability factsheet
  Français (2018.pdf) - Orphanet
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Emergency guidelines
  Français (2013.pdf) Maladie de Moya-Moya - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Italiano (2014) - Orphananesthesia
- Clinical practice guidelines
  English (2012) Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis) - Neurol Med Chir
- Review article
  English (2015) Moyamoya disease and syndromes: from genetics to clinical management - Appl Clin Genet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Moyamoya disease
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Maladie de Moya-Moya - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Italiano (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Maladie et syndrome de moyamoya de lenfant et de ladulte - PNDS
  
  English (2012) Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis) - Neurol Med Chir
- Review article
  English (2015) Moyamoya disease and syndromes: from genetics to clinical management - Appl Clin Genet
- Disability factsheet
  Français (2018.pdf) - Orphanet
Moyamoya disease with early-onset achalasia
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
  
  Italiano (2014) - Orphananesthesia
- Review article
  English (2015) Moyamoya disease and syndromes: from genetics to clinical management - Appl Clin Genet
MPDU1-CDG
- Clinical genetics review
  English (2017) - GeneReviews
MPI-CDG
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2022) MPI-CDG (CDG Ib) - G2M
  
  English (2022.pdf) Protocol for Patient with CDG syndrome 1b (MPI-CDG) - G2M
- Clinical practice guidelines
  Français (2022) MPI-CDG Défaut de glycosylation des glycoprotéines par déficit en phosphomannose isomérase - PNDS
  
  English (2020) Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation - J Inherit Metab Dis
- Clinical genetics review
  English (2017) - GeneReviews
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
MSH3-related attenuated familial adenomatous polyposis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
MT-ATP6-related mitochondrial spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
MUC1-related autosomal dominant tubulointerstitial kidney disease
- Clinical practice guidelines
  English (2015) Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report - Kidney Int
Mucinous adenocarcinoma of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
Mucinous adenocarcinoma of the appendix
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2021) Appendiceal tumours and pseudomyxoma peritonei: Literature review with PSOGI/EURACAN clinical practice guidelines for diagnosis and treatment - Eur J Surg Oncol
Mucinous cystadenocarcinoma of the pancreas
- Article for general public
  Français (2012) - INCa
  
  Deutsch (2010) - Onkopedia
- Clinical practice guidelines
  Français (2010) - ALD
- Review article
  Deutsch (2018) - Onkopedia
  
  English (2017) - PDQ Cancer Inf Sum
Mucinous tubular and spindle cell renal carcinoma
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Muckle-Wells syndrome
- Article for general public
  Svenska (2011) - Socialstyrelsen
- Emergency guidelines
  Français (2025.pdf) Syndrome périodique associé à la cryopyrine (CAPS) - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2013) Syndromes périodiques associés à la cryopyrine (CAPS) - PNDS
- Review article
  English (2017) Muckle-Wells syndrome: clinical perspectives - Open Access Rheumatol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucocutaneous venous malformations
- Clinical genetics review
  English (2023) TEK-Related Venous Malformations - GeneReviews
Mucolipidosis type II
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical genetics review
  English (2019) - GeneReviews
Mucolipidosis type III
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
Mucolipidosis type III alpha/beta
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
- Clinical genetics review
  English (2012) - GeneReviews
Mucolipidosis type III gamma
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
- Clinical genetics review
  English (2019) Mucolipidosis III Gamma - GeneReviews
Mucolipidosis type IV
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
Mucopolysaccharidosis
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2013.pdf) - FPD RD unit
- Emergency guidelines
  Français (2023) Mucopolysaccharidose (MPS) - G2M
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 1
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2007) Mucopolysaccharidose de type I - PNDS
  
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
  
  English (2011) Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Mucopolysaccharidosis Type I - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 10
- Clinical practice guidelines
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
Mucopolysaccharidosis type 2
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
  
  English (2011) Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mucopolysaccharidosis type 2, attenuated form
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Svenska (2024) - Socialstyrelsen
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Mucopolysaccharidosis Type II - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mucopolysaccharidosis type 2, severe form
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Svenska (2024) - Socialstyrelsen
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Mucopolysaccharidosis Type II - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Mucopolysaccharidosis type 3
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
  
  English (2022) Sanfilippo syndrome: consensus guidelines for clinical care - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Mucopolysaccharidosis Type III - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 4
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 4A
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2013.pdf) - FPD RD unit
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 4B
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2013.pdf) - FPD RD unit
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 6
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
  
  English (2019) Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance - Orphanet J Rare Dis
- Review article
  English (2010) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 6, rapidly progressing
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2013.pdf) - FPD RD unit
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Review article
  English (2010) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 6, slowly progressing
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2013.pdf) - FPD RD unit
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Review article
  English (2010) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis type 7
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  English (2013.pdf) - FPD RD unit
  
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2024) Mucopolysaccharidosis Type VII - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Mucopolysaccharidosis with skin involvement
- Clinical practice guidelines
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
Mucous membrane pemphigoid
- Clinical practice guidelines
  Français (2016) Maladies bulleuses auto-immunes : Pemphigoïde cicatricielle - PNDS
  
  Deutsch (2022) S2k-Leitlinie Diagnostik und Therapie des Schleimhautpemphigoids - AWMF
  
  English (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
  
  English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
  
  English (2021) European guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology - Part I - J Eur Acad Dermatol Venereol
  
  English (2021) European Guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology - Part II - J Eur Acad Dermatol Venereol
Muenke syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2023) Muenke Syndrome - GeneReviews
  
  English (2020) FGFR-Related Craniosynostosis Syndromes - GeneReviews
Multicentric osteolysis-nodulosis-arthropathy spectrum
- Clinical genetics review
  English (2023) Multicentric Osteolysis Nodulosis and Arthropathy - GeneReviews
Multicystic dysplastic kidney
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
Multifocal infantile hemangioma with extracutenous involvement
- Review article
  English (2017) - PDQ Cancer Inf Sum
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Clinical practice guidelines
  English (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
Multifocal motor neuropathy
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2018) - AWMF
  
  Deutsch (2024) - AWMF
Multifocal pattern dystrophy simulating fundus flavimaculatus
- Clinical practice guidelines
  Français (2021) Maculopathies génétiques - PNDS
Multilocular cystic renal neoplasm of low malignant potential
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Multiminicore myopathy
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2013) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Multiple acyl-CoA dehydrogenase deficiency
- Emergency guidelines
  Français (2023) Insuffisance hépatique néonatale - G2M
  
  Français (2023) Hypoglycémie aux urgences chez un patient non connu - G2M
  
  Français (2023) Rhabdomyolyse aux urgences patient non connu - G2M
  
  Français (2023) Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2 - G2M
  
  Français (2023) Rhabdomyolyse peu sévère chez un patient connu - G2M
  
  Français (2023) Rhabdomyolyse sévère chez un patient connu - G2M
  
  Français (2023) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2020) - GeneReviews
Multiple acyl-CoA dehydrogenase deficiency, mild type
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
Multiple benign circumferential skin creases on limbs
- Clinical genetics review
  English (2021) Tubulinopathies Overview - GeneReviews
Multiple endocrine neoplasia type 1
- Article for general public
  Deutsch (2018.pdf) -
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  English (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2 - J Clin Endocrinol Metab
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1) - J Clin Endocrinol Metab
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Multiple endocrine neoplasia type 2
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Clinical practice guidelines
  Français (2010) - ALD
  
  English (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2 - J Clin Endocrinol Metab
  
  English (2012) Management of Thyroid Carcinoma in Children and Young Adults - J Pediatr Hematol Oncol
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Multiple Endocrine Neoplasia Type 2 - GeneReviews
- Guidance for genetic testing
  Français (2013.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Multiple endocrine neoplasia type 2A
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Clinical practice guidelines
  Français (2009.pdf) - INCa
  
  English (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2 - J Clin Endocrinol Metab
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2012) Management of Thyroid Carcinoma in Children and Young Adults - J Pediatr Hematol Oncol
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Multiple Endocrine Neoplasia Type 2 - GeneReviews
- Guidance for genetic testing
  Français (2013.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Multiple endocrine neoplasia type 2B
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Clinical practice guidelines
  Français (2009.pdf) - INCa
  
  English (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2 - J Clin Endocrinol Metab
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2012) Management of Thyroid Carcinoma in Children and Young Adults - J Pediatr Hematol Oncol
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Multiple Endocrine Neoplasia Type 2 - GeneReviews
- Guidance for genetic testing
  Français (2013.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Multiple endocrine neoplasia type 4
- Clinical genetics review
  English (2023) Multiple Endocrine Neoplasia Type 4 - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Multiple epiphyseal dysplasia
- Article for general public
  Svenska (2023) - Socialstyrelsen
Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Clinical genetics review
  English (2019) - GeneReviews
Multiple epiphyseal dysplasia type 1
- Article for general public
  Svenska (2010) - Socialstyrelsen
- Clinical genetics review
  English (2019) - GeneReviews
Multiple epiphyseal dysplasia type 4
- Article for general public
  Svenska (2010) - Socialstyrelsen
- Clinical genetics review
  English (2023) SLC26A2-Related Multiple Epiphyseal Dysplasia - GeneReviews
Multiple epiphyseal dysplasia type 5
- Article for general public
  Svenska (2010) - Socialstyrelsen
- Clinical genetics review
  English (2019) - GeneReviews
Multiple mitochondrial DNA deletion syndrome
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Multiple mitochondrial dysfunctions syndrome type 4
- Clinical genetics review
  English (2018) ISCA2-Related Mitochondrial Disorder - GeneReviews
Multiple mitochondrial dysfunctions syndrome type 5
- Clinical genetics review
  English (2019) ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome - GeneReviews
Multiple myeloma
- Article for general public
  Français (2015) - INCa
  
  Deutsch (2013) - Onkopedia
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) - ALD
  
  English (2021) Multiple myeloma: EHA-ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  Deutsch (2018) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Multiple osteochondromas
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
  
  Svenska (2019) - Socialstyrelsen
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
Multiple paragangliomas associated with polycythemia
- Anesthesia guidelines
  English (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
  
  Español (2016) Recomendaciones para la anestesia de pacientes con paraganglioma y feocromocitoma - Orphananesthesia
  
  Čeština (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Phéochromocytomes et Paragangliomes - PNDS
  
  English (2016) European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma - Eur J Endocrinol
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
- Review article
  English (2006) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Multiple pterygium-malignant hyperthermia syndrome
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
Multiple sclerosis variant
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2021) Ichthyoses héréditaires - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Multiple sulfatase deficiency
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2019) Multiple Sulfatase Deficiency - GeneReviews
Multiple symmetric lipomatosis
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
Multiple system atrophy
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2015) Atrophie multisystématisée - PNDS
  
  Français (2024) Atrophie multisystématisée (AMS) - PNDS
- Review article
  Français (2010) - Psychol NeuroPsychiatr Vieil
Multiple system atrophy, cerebellar type
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2006.pdf) - Orphanet
  
  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
  
  Français (2015) Atrophie multisystématisée - PNDS
  
  Français (2024) Atrophie multisystématisée (AMS) - 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
Multiple system atrophy, parkinsonian type
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2015) Atrophie multisystématisée - PNDS
  
  Français (2024) Atrophie multisystématisée (AMS) - PNDS
Multisystem inflammatory syndrome in children and adults
- Emergency guidelines
  Français (2021.pdf) Maladie de Kawasaki - Orphanet Urgences
Multisystemic smooth muscle dysfunction syndrome
- Clinical practice guidelines
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
  
  English (2019) European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants - Orphanet J Rare Dis
  
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
Muscle filaminopathy
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Muscle-eye-brain disease
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Svenska (2016) - Socialstyrelsen
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Article for general public
  Norsk (2012.pdf) - Cure CMD
  
  Français (2012.pdf) - Cure CMD
  
  Latviešu (2012.pdf) - Cure CMD
  
  Deutsch (2012.pdf) - Cure CMD
  
  English (2012.pdf) - Cure CMD
  
  Español (2012.pdf) - Cure CMD
  
  Türkçe (2012.pdf) - Cure CMD
  
  Српски (2012.pdf) - Cure CMD
  
  Čeština (2012.pdf) - Cure CMD
  
  Português (2012.pdf) - Cure CMD
  
  日本語 (2012.pdf) - Cure CMD
- Clinical practice guidelines
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus 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
Muscular dystrophy
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Muscular dystrophy, Selcen type
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Muscular pseudohypertrophy-hypothyroidism 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
Musculocontractural Ehlers-Danlos syndrome
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
Mutilating hereditary sensory neuropathy with spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Review article
  English (2015) - Orphanet J Rare Dis
MUTYH-related attenuated familial adenomatous polyposis
- Article for general public
  Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V
- Clinical practice guidelines
  Français (2011.pdf) - INCa
  
  English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
- Clinical genetics review
  English (2021) MUTYH Polyposis - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Myasthenia gravis
- Article for general public
  Français (2009.pdf) - Orphanet
  
  Deutsch (2017.pdf) - ACHSE
  
  Español (2019.pdf) - Asociacion Miastenia de Espana
- Emergency guidelines
  Français (2018.pdf) Myasthénie autoimmune - Orphanet Urgences
  
  Polski (2010.pdf) Miastenia - Orphanet Urgences
  
  Deutsch (2010.pdf) Myasthenia gravis - Orphanet Urgences
  
  English (2010.pdf) Autoimmune myasthenia - Orphanet Urgences
  
  Español (2010.pdf) Miastenia autoinmune - Orphanet Urgences
  
  Italiano (2013.pdf) Miastenia autoimmune - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - 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
  
  English (2021) International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update - Neurology
- Review article
  English (2012) Myasthenia gravis: a review - Autoimmune Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
Mycophenolate mofetil embryopathy
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Mycoplasma encephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Mycosis fungoides and variants
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Myelic limited dorsal malformation
- 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
Myelocystocele
- 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
Myelodysplastic neoplasm with increased blasts
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2024) Myelodysplastische Neoplasien (Myelodysplastische Syndrome, MDS) - Onkopedia
  
  English (2024) Myelodysplastic Neoplasms (MDS) - Onkopedia
Myelodysplastic neoplasm with increased blasts type 1
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2024) Myelodysplastische Neoplasien (Myelodysplastische Syndrome, MDS) - Onkopedia
  
  English (2024) Myelodysplastic Neoplasms (MDS) - Onkopedia
Myelodysplastic neoplasm with increased blasts type 2
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2024) Myelodysplastische Neoplasien (Myelodysplastische Syndrome, MDS) - Onkopedia
  
  English (2024) Myelodysplastic Neoplasms (MDS) - Onkopedia
Myelodysplastic neoplasm with low blasts
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2021) - Onkopedia
Myelodysplastic syndrome
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2019) Molecular pathogenesis of myelodysplastic syndromes with deletion 5q - Eur J Haematol
Myelodysplastic/myeloproliferative disease
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Myeloid sarcoma
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Myeloperoxidase deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Myeloproliferative neoplasm
- Article for general public
  Deutsch (2013) - MPN-Netzwerk
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
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
MYH9-related syndromic thrombocytopenia
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Français (2021) Syndrome MYH9 - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Review article
  English (2009) MYH9-related platelet disorders - Semin Thromb Hemost
- Clinical genetics review
  English (2021) - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Myhre syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical genetics review
  English (2022) - GeneReviews
MYO5B-related progressive familial intrahepatic cholestasis
- Clinical genetics review
  English (2023) Pediatric Genetic Cholestatic Liver Disease Overview - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Myoclonic epilepsy in non-progressive encephalopathies
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Myoclonic epilepsy of infancy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Clinical practice guidelines
  Français (2019) Épilepsie myoclonique du nourrisson - PNDS
Myoclonus-cerebellar ataxia-deafness 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
Myoclonus-dystonia syndrome
- Clinical practice guidelines
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Review article
  English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
- Clinical genetics review
  English (2016) DYT1 Early-Onset Isolated Dystonia - GeneReviews
  
  English (2017) Hereditary Dystonia Overview - GeneReviews
  
  English (2020) SGCE Myoclonus-Dystonia - GeneReviews
Myofibrillar myopathy
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
- Clinical practice guidelines
  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
Myopathic Ehlers-Danlos syndrome
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
Myopathic intestinal pseudoobstruction
- Clinical genetics review
  English (2021) - GeneReviews
Myosclerosis
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical genetics review
  English (2021) - GeneReviews
Myotilinopathy
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Myotonia fluctuans
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Myotonia permanens
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Myotonic dystrophy
- Article for general public
  Français (2009.pdf) - Myotonic Dystrophy Foundation
  
  Español (2012.pdf) - Myotonic Dystrophy Foundation
  
  Svenska (2015) - Socialstyrelsen
  
  Italiano (2009.pdf) - Myotonic Dystrophy Foundation
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Myotonic syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Article for general public
  Français (2022.pdf) Syndrome lié au gène MYT1L - Les Extra-Vaillants - MYT1L
  
  English (2021.pdf) MYT1L syndrome (MYT1L variants and 2p25.3 deletions) - Unique
  
  Русский (2018.pdf) MYT1L syndrome (MYT1L variants and 2p25.3 deletions) - Unique
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Myxofibrosarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Myxoid/round cell liposarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Myxopapillary ependymoma
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Müllerian aplasia
- Clinical practice guidelines
  Deutsch (2020) - AWMF

Knowledge on rare diseases and orphan drugs

Encyclopaedia

ALPHABETICAL LIST

ALPHABETICAL LIST

ORPHANET USER SATISFACTION SURVEY 2025