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  • Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert...
    10 KB (1,089 words) - 15:04, 23 June 2024
  • Thumbnail for Ring chromosome
    www.orpha.net. "Orphanet: Ring chromosome 4 syndrome". www.orpha.net. "Orphanet: Ring chromosome 5 syndrome". www.orpha.net. "Orphanet: Ring chromosome...
    15 KB (792 words) - 18:19, 31 May 2023
  • reconciles a wide variety of rare disease knowledge sources, such as OMIM and Orphanet. This was the first count since 1983, demonstrating that there were >10...
    25 KB (2,427 words) - 17:11, 7 September 2024
  • Thumbnail for Hemimelia
    (2021-03-18). "Amelia". Centers for Disease Control and Prevention. Retrieved 2023-03-20. Orphanet 93323 Orphanet 93322 Orphanet 93321 Orphanet 93320...
    4 KB (238 words) - 07:24, 15 July 2024
  • Thumbnail for Methylmalonic acidemias
    Orphanet. Retrieved 2024-04-27. "Imerslund-Gräsbeck syndrome". Orphanet. Retrieved 2024-04-27. "Congenital intrinsic factor deficiency". Orphanet. Retrieved...
    49 KB (4,433 words) - 18:08, 16 June 2024
  • The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and...
    3 KB (229 words) - 13:49, 27 September 2023
  • Journal of Dermatology. 10 (5): 337–340. PMID 10882940. "Orphanet: Pili bifurcati". Orphanet. 2024-02-29. Retrieved 2024-03-23. Ruiz-Villaverde, R; Villanova-Mateu...
    5 KB (384 words) - 16:38, 7 April 2024
  • Thumbnail for Pili multigemini
    List of cutaneous conditions Camacho-Martínez, Francisco (May 2012). "Orphanet: Pili gemini". www.orpha.net. Retrieved 30 January 2020. McElwee, Kevin...
    3 KB (278 words) - 12:05, 15 July 2024
  • Thumbnail for Chylomicron retention disease
    doi:10.1038/ng1145. PMID 12692552. S2CID 10543077. "Orphanet: Chylomicron retention disease". Orphanet. October 13, 2023. Retrieved October 14, 2023....
    19 KB (1,990 words) - 03:26, 23 April 2024
  • National Library of Medicine. Retrieved 5 August 2020. "Orphanet: Oculocutaneous albinism". Orphanet. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE...
    13 KB (665 words) - 15:43, 3 February 2024
  • Thumbnail for Delta-beta thalassemia
    thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Retrieved 16 September 2016. "Thalassaemia | Health | Patient". Patient...
    8 KB (663 words) - 20:48, 14 August 2024
  • Thumbnail for Glanzmann's thrombasthenia
    PMID 15461628. S2CID 33436277. Nurden, Alan T (2006). "Glanzmann thrombasthenia". Orphanet Journal of Rare Diseases. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837...
    10 KB (1,027 words) - 15:47, 4 May 2024
  • Thumbnail for Oculocerebrorenal syndrome
    Patient. Retrieved 21 December 2016. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December...
    8 KB (739 words) - 06:19, 16 November 2023
  • Thumbnail for Arthrogryposis
    seizures - migrational brain disorder". Orphanet. Archived from the original on 2019-04-08. Retrieved 2008-08-10.ORPHANET - About rare diseases - About orphan...
    35 KB (3,588 words) - 19:20, 22 July 2024
  • Disorders, WebMD, and Orphanet. Fanconi anemia - MedlinePlus, Cleveland Clinic, National Organization for Rare Disorders, WebMD, and Orphanet. Shwachman–Diamond...
    26 KB (2,325 words) - 22:20, 8 January 2024
  • conditions Chronic granulomatous disease RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Neutrophil immunodeficiency syndrome". www.orpha.net. Retrieved 18 March...
    2 KB (75 words) - 09:28, 4 November 2023
  • Thumbnail for Sanfilippo syndrome
    clinical care". Orphanet Journal of Rare Diseases. 17 (1): 391. doi:10.1186/s13023-022-02484-6. PMC 9612603. PMID 36303195. "Orphanet: Mucopolysaccharidosis...
    46 KB (5,317 words) - 18:53, 10 September 2024
  • Thumbnail for Corneodermatoosseous syndrome
    defects List of cutaneous conditions RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Corneodermatoosseous syndrome". www.orpha.net. Retrieved 19 April 2019...
    2 KB (115 words) - 05:11, 5 May 2024
  • Thumbnail for Immunodeficiency–centromeric instability–facial anomalies syndrome
    "Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)". Orphanet Journal of Rare Diseases. 1 (1): 2. doi:10.1186/1750-1172-1-2. ISSN 1750-1172...
    6 KB (563 words) - 20:42, 3 December 2023
  • Thumbnail for Brachydactyly type D
    PMID 14295653. Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi:10.1186/1750-1172-3-15. ISSN 1750-1172...
    8 KB (774 words) - 04:43, 21 June 2024
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