Orpha.net

Orphanet : Diseases

WEBOrphanet provides access to an Encyclopaedia for the General Public. This encylopaedia is made up of informative texts produced by Orphanet and peer-reviewed by disease …

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URL: https://www.orpha.net/en/disease/encyclopedia

Orphanet : Diseases

WEBThe Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. A …

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Orphanet: Quality charterAbout Orphanet

WEBOrphanet integrates and provides access to quality information produced around the world, such as clinical practice guidelines and information geared to the general public. …

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Orphanet: 17q11.2 microduplication syndrome

WEB17q11.2 microduplication encompasses the NF1 region. This region is involved in the NF1 microdeletion syndrome (neurofibromatosis type 1, see this term). The microduplication …

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Orphanet: Multiple acyl-CoA dehydrogenase deficiency

WEBDisease definition. Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging …

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Orphanet: Hemoglobin H disease

WEBDisease definition. An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. …

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Management of Angelman Syndrome

WEBIn the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate …

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Orphanet was launched in 1997 by the INSERM (French …

WEB13 Further words on why they work for Orphanet… “Orphanet has connected healthcare providers, researchers and patients to each other and created an

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List of rare diseases and synonyms in alphabetical order

WEBFor any questions or comments, please contact us: [email protected] Editor-in-chief: Ana Rath – Editor: Houda Ali Technical support: Valérie Lanneau, David Lagorce - …

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Orphanet: Quality charter

WEBOrphan drugs may be defined as : Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need. Actually, the …

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Orphanet: Quality charter About rare diseases

WEBFor many rare diseases, signs may be observed at birth or in childhood, as is the case of proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, …

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Management of Kabuki Syndrome Management Guidelines

WEBKabuki Syndrome is a rare multiple anomaly syndrome with an estimated incidence of around 1 in 32,000 . It was first described in 1981 by Drs Niikawa and Kuroki, working …

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Prevalence and incidence of rare diseases: Bibliographic data

WEBNumber 1 | November 2023 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical …

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Orphanet: Experts centres

WEBOrphanet provides information on centres of expertise or networks of centres of expertise dedicated to the medical management and/or genetic counselling for one particular rare …

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Orphanet: Wolf-Hirschhorn syndrome

WEBMarked intra-uterine growth retardation and slow, postnatal weight gain are observed. The distinctive facies is characterized by a broad nasal bridge continuing to the forehead …

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Orphanet: Classic congenital adrenal hyperplasia due to 21 …

WEBClinical description. Classic 21-OHD CAH can be divided into 2 clinical groups: simple-virilizing or salt wasting. Clinical signs are observed prenatally or at birth. Girls present …

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