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ONTOLOGY REPORT - ANNOTATIONS


Term:leukocyte adhesion deficiency 2
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Accession:DOID:0080492 term browser browse the term
Definition:A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. (DO)
Comment:Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases.
Synonyms:exact_synonym: LAD2
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Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      hematopoietic system disease 1595
        leukocyte disease 485
          leukocyte adhesion deficiency 3
            leukocyte adhesion deficiency 2 0
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal recessive disease 2386
                leukocyte adhesion deficiency 3
                  leukocyte adhesion deficiency 2 0
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