32 Matching Annotations
  1. Sep 2023
  2. Dec 2022
    1. OMIM 612718

      Case#: pt I, 21 y/o male

      DiseaseAssertion: GAMT deficiency

      FamilyInfo:non-consangeous parents of Yemenite Jewish descent

      CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

      CaseHPOFreeText: N/A

      CaseNotHPOs:N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: abnormal CK and EMG results

      Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

      GAMT activity assay: N/A

      Zygosity: autosomal recessive

      Variant 1: OMIM 612718

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

    1. OMIM 300352)

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

    2. OMIM 601240

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

    3. OMIM 602360

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

  3. Nov 2022
    1. I like to say that in ECS we design bottom-up. We look at data and which behaviour depends on which data. In OO we design top-down, we search for abstractions and generic behaviours / definitions.
  4. Sep 2022
    1. 中国八一旗帜

      图案为红底色,大五角星代表中国共产党,靠旗杆上方为金黄色五角星及‘八一’两字,表示中国共产党打响南昌起义第一枪。自1927年8月1日南昌起义以来,经过长期奋斗,正以其灿烂的星光,普照着全国。

    2. 第三国际

      共产国际(俄语:Коммунистический интернационал,缩写为Коминтерн),通称第三国际(Третий интернационал),是一个共产党和共产主义组织的国际联合组织,1919年3月在列宁领导下成立,总部设于苏联莫斯科。1943年5月15日,共产国际执行委员会主席团作出《关于提议解散共产国际的决定》;并于5月25日公开宣布《解散共产国际的决议》,声言这是为了适应世界反法西斯战争的发展,便于各国共产党独立处理问题。相关人员和组织转入随即成立的苏联共产党中央委员会国际部。

  5. Aug 2022
  6. May 2022
    1. Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.

      gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a

    1. DICER1 syndrome is an autosomal-dominant,pleiotropic, tumor-predisposition disorder arisingfrom pathogenic germline variants in DICER1, whichencodes an endoribonuclease integral to processingmicroRNAs

      DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense

  7. Apr 2022
    1. DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder

      Gene Name:DICER1 PMID: 30715996 HGNCID: Not on document Inheritance Pattern: Autosomal Dominant Disease Entity: Pleiotropic Tumor-Predisposition Disorder Mutation: Pathogenic Germline Variants Zygosity: Not in document Variant: Not in document Family Information: An individual was found who had family members who were also affected by this mutation. Because of this, those family members were also chosen to participate in this study. Mutation Type: Missense Case: The study was done on more than one individual. Roughly more than half of the individuals were female

    1. The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer

      GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

  8. Sep 2021
  9. Mar 2021
  10. Jan 2021
    1. Theownerentitysetandtheweakentitysetmustparticipateina one-to-manyrelationshipset(oneownerentityisassociatedwithoneormoreweakentities,buteachweakentityhasa singleowner).Thisrelationshipsetiscalledtheidentifyingrelationshipsetoftheweakentityset
    1. It appears that Canonical is continuing it's vice grip of unliateral, maybe dictatorial control on the development of Snap to the benefit of Ubuntu, but to the detriment of groups like Linuxmint, and all other non-Ubuntu based Linux distributions - like CentOS/Redhat, Suse/openSuSe, Solus, Arch/Manjaro, PCLinuxOS, etc, that are pushing Flatpak as a truly cross-distro application solution that works equally well and non-problematic for all. .
    2. What's wrong here is Canonical trying to position itself as a powerhouse and ascertain control over Linux users.
    3. If we're not careful, it could become the new 'systemd' problem It probably already is. I don't want to sound too Stallman, but this is the inevitable "company" influence you'll always have. Companies do have their objectives which they will pursue determinedly, since they are not philanthropic (no judgment, just observation). Systemd and Red Hat. Nvidia and their drivers. Google and Android. Apple and iOS. Manufacturers with MS only support. And Canonical also has a history there: the Amazon links, Unity, Mir, and now snap.
    1. What we didn't want it to be was for Canonical to control the distribution of software between distributions and 3rd party editors, to prevent direct distribution from editors, to make it so software worked better in Ubuntu than anywhere else and to make its store a requirement,"
  11. Oct 2020
  12. Jun 2020
  13. May 2020
    1. This has too many, very different meanings.

      Especially these 2 which are themselves similar, but seem unlike the first 3:

      • an establishment engaged in doing business for another
      • an administrative division (as of a government) Both are basically an organization.
  14. Apr 2020
    1. Entity references consist of & + any of the valid HTML5 entity names + ;. The document https://html.spec.whatwg.org/multipage/entities.json is used as an authoritative source for the valid entity references and their corresponding code points.