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238 results
  1. xmlmplus_topics_2025-04-05.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-05.xml
    ... topic><related-topic >Vaccines</related-topic><see-reference >Chronic Granulomatous Disease</see-reference><see-reference >Primary Immunodeficiency Diseases</see-reference><see- ...
  2. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99496
    ... NCF2 database NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox NCF2 NCF2 NCF4 22q12 ​.3 Neutrophil cytosol factor 4 NCF4 NCF4 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. Williams Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1249
    ... NCF1 database NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox NCF1 NCF1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  4. Immune System and Disorders | Autoimmune Disease | MedlinePlus 
    https://medlineplus.gov/immunesystemanddisorders.html
    ... Allergy and Infectious Diseases) Clinical Trials ClinicalTrials.gov: ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  5. NLM Digital Collections - AIDS Tracer M, 9/19/1983-10/31/1983 
    https://resource.nlm.nih.gov/101637321X8
    ... candidiasis Systemic lupus erythematosis Bruton type aggammaplobulinemia Progerila ... 11/131 5/7 3/3 See reference 21, Considered low if below the range of ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease</url><title >Chronic granulomatous disease</title><other_names >< ...
  7. McLeod Neuroacanthocytosis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1354
    ... genes include Duchenne muscular dystrophy ( DMD ), X-linked chronic granulomatous disease ( CYBB ), X-linked retinitis pigmentosa ( RPGR ), and ornithine ... of XK on Xp21.1: CYBB (X-linked chronic granulomatous disease ) RPGR ( RPGR -related retinitis pigmentosa ) OTC ( ornithine transcarbamylase ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic ... 
    https://www.ncbi.nlm.nih.gov/books/NBK588574
    ... NP_001805 ​.4 Hart et al [2000] CYBA Chronic granulomatous disease AR c.171dupG p.Lys58GlufsTer155 ~100% 3 Unknown ... 005957 ​.5 Ben-Shachar et al [2012] NCF1 Chronic granulomatous disease AR c.579G>A p.Trp193Ter 96% 1/ ...
  9. Rotor Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114805
    ... Syndrome. Loeys BL, Dietz HC. GeneReviews(®). 1993 Review Chronic Granulomatous Disease. [GeneReviews(®). 1993] Review Chronic Granulomatous Disease. Leiding JW, ...
  10. X-Linked Hyper IgM Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1402
    ... Deficiency. Hershfield M, Tarrant T. GeneReviews(®). 1993 Review Chronic Granulomatous Disease. [GeneReviews(®). 1993] Review Chronic Granulomatous Disease. Leiding JW, ...
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