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- B97b5c6480fa265abf61c94c2bb8e37c1 hasDbXref "OMIM:619164" @default.
- B97b5c6480fa265abf61c94c2bb8e37c1 hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B97b5c6480fa265abf61c94c2bb8e37c1 hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B97b5c6480fa265abf61c94c2bb8e37c1 type Axiom @default.
- B97b5c6480fa265abf61c94c2bb8e37c1 annotatedProperty IAO_0000115 @default.
- B97b5c6480fa265abf61c94c2bb8e37c1 annotatedSource MONDO_0030898 @default.
- B97b5c6480fa265abf61c94c2bb8e37c1 annotatedTarget "An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood." @default.