Orphanet: Encyclopaedia for professionals

::Help

The Professional Encyclopaedia is comprised of a set of articles which are expert-authored and peer-reviewed.

There are four categories of articles:

Review articles are comprehensive articles summarising the current medical knowledge on a disease.
Practical Genetics articles are review articles focusing on genetic knowledge and the patient workup.
The Emergency Guidelines are summary recommendations for the management of patients in emergency situations.
Good Practice guidelines are summary recommendations for the management of patients, issued by official organisations.

They are not yet available in all of the six Orphanet languages or for all rare diseases.

To view a specific article, access the alphabetical disease list

::Warning

Information in Orphanet is updated on a regular basis.
It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

These general texts may not apply to specific cases, due to the extensive variability of disease expression. Some information may look shocking. It is of the utmost importance to check if the provided information is relevant or not to a specific case.

The downloading of some professional texts requires Acrobat Reader.

To install it, download Acrobat Reader

- AAE
- Emergency guidelines
- Aarskog-Scott syndrome
- Guidance for genetic testing
  - EN
- Aarskog syndrome
- Guidance for genetic testing
  - EN
- Aase-Smith II syndrome
- Guidance for genetic testing
  - EN
- Emergency guidelines
  - FR (pdf,150ko)
- Aase syndrome
- Guidance for genetic testing
  - EN
- Emergency guidelines
  - FR (pdf,150ko)
- ABCB4 gene mutation-associated cholelithiasis
- Review article
  - EN
- Aberfeld syndrome
- Clinical practice guidelines
  - DE
- Abetalipoproteinemia
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Guidance for genetic testing
  - EN
- ABPA
- Review article
  - EN
- Absence of pulmonary valve - ventricular septal defect - persistent ductus arteriosus
- Clinical practice guidelines
  - FR (pdf,655ko)
- Acetazolamide-responsive congenital myotonia
- Clinical practice guidelines
  - DE
- Acetazolamide-responsive myotonia
- Clinical practice guidelines
  - DE
- ACFS
- Review article
  - EN
- Achondroplasia
- Anesthesia guidelines
  - DE (pdf,50ko)
  - EN (pdf,56ko)
- Achromatopsia
- Guidance for genetic testing
  - EN
- Acid beta-glucosidase deficiency
- Clinical practice guidelines
  - DE
  - FR (pdf,462ko)
  - EN
  - ES (pdf,6615ko)
- Acquired angioedema
- Emergency guidelines
- Acquired angioedema type 1
- Emergency guidelines
- Acquired angioedema type 2
- Emergency guidelines
- Acquired angioneurotic edema
- Emergency guidelines
- Acquired angioneurotic edema type 1
- Emergency guidelines
- Acquired angioneurotic edema type 2
- Emergency guidelines
- Acquired bradykinine-induced angioedema
- Emergency guidelines
- Acquired C1 inhibitor deficiency
- Emergency guidelines
- Acquired CDI
- Emergency guidelines
- Acquired central diabetes insipidus
- Emergency guidelines
- Acquired epidermolysis bullosa
- Clinical practice guidelines
  - FR (pdf,285ko)
- Acquired hemophilia
- Clinical practice guidelines
  - EN (pdf,156ko)
- Acquired ichthyosis
- Clinical practice guidelines
  - DE
- Acquired idiopathic sideroblastic anemia
- Clinical practice guidelines
  - EN (pdf,127ko)
  - FR (pdf,256ko)
- Acquired myasthenia
- Review article
  - EN
- Clinical practice guidelines
  - DE
  - EN
- Emergency guidelines
  - ES (pdf,177ko)
  - FR (pdf,206ko)
- Acquired neurogenic diabetes insipidus
- Emergency guidelines
- Acquired neuromyotonia
- Clinical practice guidelines
  - EN
- Acquired non histamine-induced angioedema
- Emergency guidelines
- Acral dystrophic epidermolysis bullosa
- Emergency guidelines
  - FR
- Anesthesia guidelines
  - EN (pdf,43ko)
- Acral self-healing collodion baby
- Practical genetics
  - EN
- Acral SHCB
- Practical genetics
  - EN
- Acro-cardio-facial syndrome
- Review article
  - EN
- Acrocephalosyndactyly type 1
- Anesthesia guidelines
  - EN (pdf,41ko)
- Acrocephalosyndactyly type 5
- Review article
  - EN
- Acrodermatitis enteropathica, zinc deficiency type
- Guidance for genetic testing
  - EN
- Acrodysostosis
- Review article
  - EN (pdf,43ko)
- Acrodysplasia
- Review article
  - EN (pdf,43ko)
- Acromegaly
- Review article
  - EN
- Acromesomelic dwarfism
- Review article
  - EN (pdf,64ko)
- Acromesomelic dysplasia, Grebe type
- Review article
  - EN (pdf,65ko)
- Acromesomelic dysplasia, Hunter-Thomson type
- Review article
  - EN (pdf,64ko)
- ACS 1
- Anesthesia guidelines
  - EN (pdf,41ko)
- ACS 5
- Review article
  - EN
- Acute adrenal failure
- Clinical practice guidelines
  - DE
- Emergency guidelines
  - FR (pdf,168ko)
- Acute adrenal insufficiency
- Clinical practice guidelines
  - DE
- Emergency guidelines
  - FR (pdf,168ko)
- Acute adrenocortical insufficiency
- Clinical practice guidelines
  - DE
- Emergency guidelines
  - FR (pdf,168ko)
- Acute disseminated encephalitis
- Review article
  - EN (pdf,320ko)
- Acute disseminated encephalomyelitis
- Review article
  - EN (pdf,320ko)
- Acute febrile neutrophilic dermatosis
- Review article
  - EN
- Acute hepatic porphyria
- Emergency guidelines
- Acute idiopathic demyelinating polyneuropathy
- Clinical practice guidelines
  - DE
- Acute inflammatory demyelinating polyradiculoneuropathy
- Clinical practice guidelines
  - DE
- Acute inflammatory polyneuropathy
- Clinical practice guidelines
  - DE
- Acute intermittent porphyria
- Emergency guidelines
- Acute motor axonal neuropathy
- Clinical practice guidelines
  - DE
- Acute motor-sensory axonal GBS
- Clinical practice guidelines
  - DE
- Acute motor-sensory axonal Guillain-Barré syndrome
- Clinical practice guidelines
  - DE
- Acute motor-sensory axonal neuropathy
- Clinical practice guidelines
  - DE
- Acute myelogenous leukemia
- Clinical practice guidelines
  - DE
- Acute myeloid leukemia
- Clinical practice guidelines
  - DE
- Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
- Clinical practice guidelines
  - EN (pdf,127ko)
  - FR (pdf,256ko)
- Acute neuronopathic Gaucher disease
- Review article
  - EN
- Clinical practice guidelines
  - FR (pdf,462ko)
- Acute non-lymphoblastic leukemia
- Clinical practice guidelines
  - DE
- Acute pure motor GBS
- Clinical practice guidelines
  - DE
- Acute pure motor Guillain-Barré syndrome
- Clinical practice guidelines
  - DE
- Acute transverse myelitis
- Review article
  - EN (pdf,762ko)
- ACY2 deficiency
- Clinical practice guidelines
  - DE
- ACZ-responsive congenital myotonia
- Clinical practice guidelines
  - DE
- ACZ-responsive myotonia
- Clinical practice guidelines
  - DE
- Adair-Dighton syndrome
- Emergency guidelines
- ADCA1
- Review article
  - EN
- Clinical practice guidelines
  - DE
- ADCA3
- Review article
  - EN
- Clinical practice guidelines
  - DE
- ADCA4
- Clinical practice guidelines
  - DE
- ADCAI
- Review article
  - EN
- Clinical practice guidelines
  - DE
- ADCAIII
- Review article
  - EN
- Clinical practice guidelines
  - DE
- ADCAIV
- Clinical practice guidelines
  - DE
- ADCL
- Clinical practice guidelines
  - EN
- AD-CNM
- Guidance for genetic testing
  - EN
- Addison disease
- Emergency guidelines
  - FR (pdf,168ko)
- Adducted thumbs - arthrogryposis, Christian type
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- ADEM
- Review article
  - EN (pdf,320ko)
- Adenosylcobalamin deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Adiposalgia
- Review article
  - EN
- Adipose tissue rheumatism
- Review article
  - EN
- Adiposis dolorosa
- Review article
  - EN
- Adrenal crisis
- Clinical practice guidelines
  - DE
- Emergency guidelines
  - FR (pdf,168ko)
- Adrenocorticotropic hormone secretion syndrome
- Clinical practice guidelines
  - ES (pdf,484ko)
- Adrenomyeloneuropathy
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Guidance for genetic testing
  - EN
- Adult GM2 gangliosidosis 0 variant
- Emergency guidelines
  - FR (pdf,145ko)
- Adult hypophosphatasia
- Guidance for genetic testing
  - EN
- Adult Krabbe disease
- Clinical practice guidelines
  - DE
- Adult NCL
- Clinical practice guidelines
  - DE
- Adult neuronal ceroid lipofuscinosis
- Clinical practice guidelines
  - DE
- Adult-onset citrullinemia type 1
- Emergency guidelines
  - EN (pdf,19ko)
- Adult-onset citrullinemia type I
- Emergency guidelines
  - EN (pdf,19ko)
- Adult-onset dermatomyositis
- Clinical practice guidelines
  - DE
- Adult-onset dystonia-parkinsonism
- Clinical practice guidelines
  - EN
- Adult-onset focal torsion dystonia
- Review article
  - EN
- Clinical practice guidelines
  - EN
- Adult-onset foveomacular vitelliform dystrophy
- Guidance for genetic testing
  - EN
- Adult-onset idiopathic torsion dystonia
- Review article
  - EN
- Clinical practice guidelines
  - EN
- Adult-onset polymyositis
- Clinical practice guidelines
  - DE
- Adult phosphoethanolaminuria
- Guidance for genetic testing
  - EN
- Adult progeria
- Guidance for genetic testing
  - EN
- Adult pulmonary Langerhans cell histiocytosis
- Review article
  - EN
- Adult Rathburn disease
- Guidance for genetic testing
  - EN
- ADVIRC
- Guidance for genetic testing
  - EN
- Adynamia epidodica hereditaria
- Clinical practice guidelines
  - DE
- AEI
- Practical genetics
  - EN
- AFAP
- Guidance for genetic testing
  - EN
- AFG3L2-associated spastic ataxia-neuropathy syndrome
- Clinical practice guidelines
  - DE
- Aganglionic Megacolon
- Clinical practice guidelines
  - DE
- Aggressive systemic mastocytosis
- Emergency guidelines
  - FR (pdf,340ko)
- AIDP
- Clinical practice guidelines
  - DE
- AIP type 1
- Review article
  - EN
- AIS
- Clinical practice guidelines
  - DE
- AISA
- Clinical practice guidelines
  - EN (pdf,127ko)
  - FR (pdf,256ko)
- ALAD porphyria
- Emergency guidelines
- Alagille syndrome
- Practical genetics
  - EN
- Alagille-Watson syndrome
- Practical genetics
  - EN
- AL Amyloidosis
- Review article
  - EN
- Alcohol-responsive dystonia
- Clinical practice guidelines
  - EN
- ALD
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Review article
  - FR (pdf,542ko)
- Guidance for genetic testing
  - EN
- Alexander disease
- Clinical practice guidelines
  - DE
- Algodystrophy
- Clinical practice guidelines
  - DE
- Allergic aspergillosis
- Review article
  - EN
- Allergic bronchopulmonary aspergillosis
- Review article
  - EN
- Alobar holoprosencephaly
- Guidance for genetic testing
  - EN
- Alpers-Huttenlocher syndrome
- Clinical practice guidelines
  - DE
- Alpers progressive sclerosing poliodystrophy
- Clinical practice guidelines
  - DE
- Alpers syndrome
- Clinical practice guidelines
  - DE
- Alpha-1,4-glucosidase acid deficiency
- Clinical practice guidelines
  - EN
- Alpha-1 antitrypsin deficiency
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Emergency guidelines
- Alpha-galactosidase A deficiency
- Review article
  - EN
- Emergency guidelines
  - FR (pdf,159ko)
- Clinical practice guidelines
  - FR (pdf,332ko)
  - EN
- Guidance for genetic testing
  - EN
- Alpha-L-fucosidase deficiency
- Clinical practice guidelines
  - DE
- Alpha-L-iduronidase deficiency
- Clinical practice guidelines
  - EN
  - FR (pdf,297ko)
- Alpha-mannosidosis
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Alpha methyl acetoacetyl-CoA thiolase deficiency
- Emergency guidelines
  - EN (pdf,37ko)
- Alpha-thalassemia
- Review article
  - EN
- Clinical practice guidelines
  - DE
  - FR (pdf,479ko)
- Alpha-thalassemia hydrops fetalis
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Alpha-thalassemia intermedia
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Alpha-thalassemia major
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Alpha thalassemia - retardation syndrome, X-linked
- Review article
  - EN
- Alpha thalassemia - X-linked intellectual deficit syndrome
- Review article
  - EN
- Alport deafness-nephropathy
- Guidance for genetic testing
  - EN
- Alport syndrome
- Guidance for genetic testing
  - EN
- ALS
- Review article
  - EN
- Clinical practice guidelines
  - FR (pdf,355ko)
  - DE
  - EN
- Emergency guidelines
- Alström syndrome
- Practical genetics
  - EN
- Clinical practice guidelines
  - ES (pdf,28ko)
- Guidance for genetic testing
  - EN
- Alveolar rhabdomyosarcoma
- Guidance for genetic testing
  - EN
- Alveolar soft-part sarcoma
- Clinical practice guidelines
  - DE
- AMAN
- Clinical practice guidelines
  - DE
- Amelogenesis imperfecta
- Review article
  - EN
- Aminoacylase 2 deficiency
- Clinical practice guidelines
  - DE
- Amish nemaline myopathy
- Guidance for genetic testing
  - EN
- AML
- Clinical practice guidelines
  - DE
- AMSAN
- Clinical practice guidelines
  - DE
- Amylo-1,6-glucosidase deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Amyoplasia congenita
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Amyotrophic lateral sclerosis
- Review article
  - EN
- Clinical practice guidelines
  - FR (pdf,355ko)
  - DE
  - EN
- Emergency guidelines
- Anaphylactoid purpura
- Review article
  - FR (pdf,872ko)
- Anaplastic ependymoma
- Clinical practice guidelines
  - DE
- Anaplastic thyroid carcinoma
- Review article
  - FR (pdf,565ko)
- ANCL
- Clinical practice guidelines
  - DE
- Andersen cardiodysrhythmic periodic paralysis
- Clinical practice guidelines
  - DE
- Andersen syndrome
- Clinical practice guidelines
  - DE
- Andersen-Tawil syndrome
- Clinical practice guidelines
  - DE
- Anderson disease
- Clinical practice guidelines
  - EN
- Anderson-Fabry disease
- Review article
  - EN
- Emergency guidelines
  - FR (pdf,159ko)
- Clinical practice guidelines
  - FR (pdf,332ko)
  - EN
- Guidance for genetic testing
  - EN
- Androblastoma
- Clinical practice guidelines
  - EN
- Androgen insensitivity syndrome
- Clinical practice guidelines
  - DE
- Androgen resistance syndrome
- Clinical practice guidelines
  - DE
- Aneurysm - osteoarthritis syndrome
- Emergency guidelines
  - FR (pdf,155ko)
- Angelman syndrome
- Anesthesia guidelines
  - EN (pdf,127ko)
- Clinical practice guidelines
  - DE
- Practical genetics
  - EN
- Clinical practice guidelines
  - EN
- Guidance for genetic testing
  - EN
- Angelman syndrome due to maternal 15q11q13 deletion
- Anesthesia guidelines
  - EN (pdf,127ko)
- Angelman syndrome due to maternal monosomy 15q11q13
- Anesthesia guidelines
  - EN (pdf,127ko)
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Anesthesia guidelines
  - EN (pdf,127ko)
- Angiokeratoma Corporis Diffusum
- Review article
  - EN
- Emergency guidelines
  - FR (pdf,159ko)
- Clinical practice guidelines
  - FR (pdf,332ko)
  - EN
- Guidance for genetic testing
  - EN
- Angiosarcoma
- Clinical practice guidelines
  - DE
- Aniridia
- Guidance for genetic testing
  - EN
- Annular epidermolytic ichthyosis
- Practical genetics
  - EN
- Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Guidance for genetic testing
  - EN
- Anterior limiting membrane dystrophy type I
- Review article
  - EN
- Anterior limiting membrane dystrophy type II
- Review article
  - EN
- AOA1
- Clinical practice guidelines
  - DE
- AOA2
- Clinical practice guidelines
  - DE
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies
- Emergency guidelines
  - FR (pdf,155ko)
- Guidance for genetic testing
  - EN
- Aorto-ventricular tunnel
- Review article
  - EN
- AOS
- Emergency guidelines
  - FR (pdf,155ko)
- APECED syndrome
- Emergency guidelines
- Apert syndrome
- Anesthesia guidelines
  - EN (pdf,41ko)
- APS1
- Emergency guidelines
- APV/PDA, non Fallot-type
- Clinical practice guidelines
  - FR (pdf,655ko)
- Arbovirus fever
- Clinical practice guidelines
  - DE
- ARCL1
- Practical genetics
  - EN
- ARCL2
- Practical genetics
  - EN
- AR-CMT1
- Guidance for genetic testing
  - EN
- AR-CNM
- Guidance for genetic testing
  - EN
- ARC syndrome
- Practical genetics
  - EN
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Aregenerative anemia
- Clinical practice guidelines
  - EN (pdf,127ko)
  - FR (pdf,256ko)
- Arginase deficiency
- Clinical practice guidelines
  - EN
- Argininemia
- Clinical practice guidelines
  - EN
- Argininosuccinase deficiency
- Clinical practice guidelines
  - EN
- Emergency guidelines
  - EN (pdf,19ko)
- Argininosuccinate synthase deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Clinical practice guidelines
  - EN
- Argininosuccinate synthetase deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Clinical practice guidelines
  - EN
- Argininosuccinic acid synthase deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Clinical practice guidelines
  - EN
- Argininosuccinic acid synthetase deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Clinical practice guidelines
  - EN
- Argininosuccinic aciduria
- Clinical practice guidelines
  - EN
- Emergency guidelines
  - EN (pdf,19ko)
- Arima syndrome
- Review article
  - EN
- Practical genetics
  - EN
- Guidance for genetic testing
  - EN
- Arkless-Graham syndrome
- Review article
  - EN (pdf,43ko)
- Arrhenoblastoma
- Clinical practice guidelines
  - EN
- Arrhythmogenic right ventricular cardiomyopathy
- Review article
  - EN
- Arrhythmogenic right ventricular dysplasia
- Review article
  - EN
- ARSB deficiency
- Review article
  - EN
- Anesthesia guidelines
  - EN
- Guidance for genetic testing
  - EN
- Arteriohepatic dysplasia
- Practical genetics
  - EN
- Arthrogryposis due to muscular dystrophy
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Arthrogryposis - hyperkeratosis, lethal form
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Arthrogryposis-like syndrome
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Arthrogryposis multiplex congenita
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Arthrogryposis multiplex congenita - whistling face
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- Arthrogryposis - renal dysfunction - cholestasis
- Practical genetics
  - EN
- Anesthesia guidelines
  - DE (pdf,69ko)
  - EN (pdf,66ko)
- ARVC
- Review article
  - EN
- ARVD
- Review article
  - EN
- Arylsulfatase A deficiency
- Clinical practice guidelines
  - DE
  - EN
- Arylsulfatase B deficiency
- Guidance for genetic testing
  - EN
- Review article
  - EN
- Anesthesia guidelines
  - EN
- ASB deficiency
- Review article
  - EN
- Anesthesia guidelines
  - EN
- Guidance for genetic testing
  - EN
- Asbestos intoxication
- Clinical practice guidelines
  - DE
- Asbestosis
- Clinical practice guidelines
  - DE
- Aseptic abscesses syndrome
- Review article
  - EN (pdf,65ko)
- Aseptic systemic abscesses
- Review article
  - EN (pdf,65ko)
- Aspartoacylase deficiency
- Clinical practice guidelines
  - DE
- ASS deficiency
- Clinical practice guidelines
  - EN
- Emergency guidelines
  - EN (pdf,19ko)
- Ataxia - oculomotor apraxia type 1
- Clinical practice guidelines
  - DE
- Ataxia - oculomotor apraxia type 2
- Clinical practice guidelines
  - DE
- Ataxia-telangiectasia
- Clinical practice guidelines
  - DE
- Ataxia-telangiectasia, variant 1
- Review article
  - EN
- Ataxia with isolated vitamin E deficiency
- Clinical practice guidelines
  - DE
- Ataxia with vitamin E deficiency
- Clinical practice guidelines
  - DE
- Atresia of bile ducts
- Review article
  - EN
- ATR-X syndrome
- Review article
  - EN
- Attenuated familial adenomatous polyposis
- Guidance for genetic testing
  - EN
- Attenuated familial polyposis coli
- Guidance for genetic testing
  - EN
- Attenuated FAP
- Guidance for genetic testing
  - EN
- ATTR cardiomyopathy
- Clinical practice guidelines
  - EN
- AT V1
- Review article
  - EN
- Atypical granular corneal dystrophy
- Review article
  - EN
- Atypical hemolytic uremic syndrome
- Review article
  - EN
- Atypical hemolytic uremic syndrome with antibody anti-factor H
- Review article
  - EN
- Atypical hemolytic uremic syndrome with B factor anomaly
- Review article
  - EN
- Atypical hemolytic uremic syndrome with C3 anomaly
- Review article
  - EN
- Atypical hemolytic uremic syndrome with H factor anomaly
- Review article
  - EN
- Atypical hemolytic uremic syndrome with I factor anomaly
- Review article
  - EN
- Atypical hemolytic uremic syndrome with MCP/CD46 anomaly
- Review article
  - EN
- Atypical hemolytic uremic syndrome with thrombomodulin anomaly
- Review article
  - EN
- Atypical HUS
- Review article
  - EN
- Atypical X-linked achromatopsia
- Guidance for genetic testing
  - EN
- Austin type juvenile sulfatidosis
- Practical genetics
  - EN
- Autoimmune Addison's disease
- Emergency guidelines
  - FR (pdf,168ko)
- Autoimmune adrenalitis
- Emergency guidelines
  - FR (pdf,168ko)
- Autoimmune hemolytic anemia, warm type
- Clinical practice guidelines
  - FR (pdf,352ko)
- Autoimmune hepatitis
- Clinical practice guidelines
  - EN
- Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
- Emergency guidelines
- Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease
- Emergency guidelines
- Autoimmune myasthenia gravis
- Review article
  - EN
- Clinical practice guidelines
  - DE
  - EN
- Emergency guidelines
  - ES (pdf,177ko)
  - FR (pdf,206ko)
- Autoimmune pancreatitis type 1
- Review article
  - EN
- Autoimmune PAP
- Review article
  - EN
- Autoimmune polyendocrine syndrome type 1
- Emergency guidelines
- Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome
- Emergency guidelines
- Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome
- Emergency guidelines
- Autoimmune polyendocrinopathy type 1
- Emergency guidelines
- Autoimmune polyglandular syndrome type 1
- Emergency guidelines
- Autoimmune pulmonary alveolar proteinosis
- Review article
  - EN
- Autosomal dominant Alport syndrome
- Guidance for genetic testing
  - EN
- Autosomal dominant axonal Charcot-Marie-Tooth disease
- Guidance for genetic testing
  - EN
- Autosomal dominant centronuclear myopathy
- Guidance for genetic testing
  - EN
- Autosomal dominant cerebellar ataxia type 1
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Autosomal dominant cerebellar ataxia type 3
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Autosomal dominant cerebellar ataxia type 4
- Clinical practice guidelines
  - DE
- Autosomal dominant cerebellar ataxia type I
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Autosomal dominant cerebellar ataxia type III
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Autosomal dominant cerebellar ataxia type IV
- Clinical practice guidelines
  - DE
- Autosomal dominant Charcot-Marie-Tooth disease type 2
- Guidance for genetic testing
  - EN
- Autosomal dominant CHED
- Review article
  - EN
- Autosomal dominant congenital hereditary endothelial dystrophy
- Review article
  - EN
- Autosomal dominant cutis laxa
- Clinical practice guidelines
  - EN
- Autosomal dominant demyelinating Charcot-Marie-Tooth disease
- Guidance for genetic testing
  - EN
- Autosomal dominant dopa-responsive dystonia
- Clinical practice guidelines
  - EN
- Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal dominant familial spastic paraplegia type 3
- Review article
  - EN
- Autosomal dominant focal dystonia, DYT7 type
- Clinical practice guidelines
  - EN
- Review article
  - EN
- Autosomal dominant keratitis
- Review article
  - EN
- Autosomal dominant nonsyndromic intellectual deficit
- Clinical practice guidelines
  - FR
- Autosomal dominant optic atrophy and cataract
- Review article
  - EN
- Autosomal dominant optic atrophy and congenital deafness
- Review article
  - EN
- Autosomal dominant optic atrophy and peripheral neuropathy
- Review article
  - EN
- Autosomal dominant optic atrophy, classic type
- Review article
  - EN
- Autosomal dominant optic atrophy, Kjer type
- Review article
  - EN
- Autosomal dominant optic atrophy plus syndrome
- Review article
  - EN
- Autosomal dominant optic atrophy type 3
- Review article
  - EN
- Autosomal dominant periodic fever
- Review article
  - FR (pdf,49ko)
- Guidance for genetic testing
  - EN (pdf,137ko)
- Autosomal dominant Segawa syndrome
- Clinical practice guidelines
  - EN
- Autosomal dominant severe congenital neutropenia
- Emergency guidelines
- Autosomal dominant spastic paraplegia type 10
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 12
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 13
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 19
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 29
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 31
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 6
- Review article
  - EN
- Autosomal dominant spastic paraplegia type 9
- Review article
  - EN
- Autosomal dominant striatonigral degeneration
- Review article
  - EN
- Autosomal dominant vitreoretinochoroidopathy
- Guidance for genetic testing
  - EN
- Autosomal recessive Alport syndrome
- Guidance for genetic testing
  - EN
- Autosomal recessive bestrophinopathy
- Guidance for genetic testing
  - EN
- Autosomal recessive centronuclear myopathy
- Guidance for genetic testing
  - EN
- Autosomal recessive CHED
- Review article
  - EN
- Autosomal recessive congenital hereditary endothelial dystrophy
- Review article
  - EN
- Autosomal recessive congenital hypomyelinating neuropathy
- Guidance for genetic testing
  - EN
- Autosomal recessive cutis laxa, Debré type
- Practical genetics
  - EN
- Autosomal recessive cutis laxa, pulmonary emphysema type
- Practical genetics
  - EN
- Autosomal recessive cutis laxa type 1
- Practical genetics
  - EN
- Autosomal recessive cutis laxa type 2
- Practical genetics
  - EN
- Autosomal recessive cutis laxa with severe systemic involvement
- Practical genetics
  - EN
- Autosomal recessive demyelinating Charcot-Marie-Tooth
- Guidance for genetic testing
  - EN
- Autosomal recessive dopa-responsive dystonia
- Clinical practice guidelines
  - EN
- Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal recessive dystrophic epidermolysis bullosa, generalized other
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Autosomal recessive epidermolysis bullosa simplex
- Emergency guidelines
  - FR
- Autosomal recessive exfoliative ichthyosis
- Practical genetics
  - EN
- Autosomal recessive medullary cystic kidney disease
- Practical genetics
  - EN
- Autosomal recessive nephronophthisis
- Practical genetics
  - EN
- Autosomal recessive nonsyndromic intellectual deficit
- Clinical practice guidelines
  - FR
- Autosomal recessive Segawa syndrome
- Clinical practice guidelines
  - EN
- Autosomal recessive sensory radicular neuropathy
- Review article
  - EN
- Autosomal recessive spastic ataxia 5
- Clinical practice guidelines
  - DE
- Autosomal recessive spastic paraplegia - disc herniation
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 14
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 15
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 21
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 23
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 24
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 25
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 26
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 27
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 28
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 30
- Review article
  - EN
- Autosomal recessive spastic paraplegia type 5A
- Review article
  - EN
- AVED
- Clinical practice guidelines
  - DE
- Avellino corneal dystrophy
- Review article
  - EN
- Axenfeld-Rieger's anomaly
- Guidance for genetic testing
  - EN
- Axenfeld-Rieger syndrome
- Practical genetics
  - EN
- Guidance for genetic testing
  - EN
- Axenfeld's anomaly
- Guidance for genetic testing
  - EN
- Axenfeld syndrome
- Practical genetics
  - EN
- Guidance for genetic testing
  - EN
- Azoospermia due to maturation arrest
- Guidance for genetic testing
  - EN
- Azoospermia due to meiosis defect
- Guidance for genetic testing
  - EN
- Azorean disease of the nervous system
- Review article
  - EN

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