Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B449a235a48949ea2e6aa83f2cc16d2c3> ?p ?o ?g. }
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- B449a235a48949ea2e6aa83f2cc16d2c3 hasDbXref "OMIM:619693" @default.
- B449a235a48949ea2e6aa83f2cc16d2c3 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B449a235a48949ea2e6aa83f2cc16d2c3 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B449a235a48949ea2e6aa83f2cc16d2c3 type Axiom @default.
- B449a235a48949ea2e6aa83f2cc16d2c3 annotatedProperty IAO_0000115 @default.
- B449a235a48949ea2e6aa83f2cc16d2c3 annotatedSource MONDO_0030519 @default.
- B449a235a48949ea2e6aa83f2cc16d2c3 annotatedTarget "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy." @default.