Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Baad1d8b8a60aa1f7d89089eec7c0de3d> ?p ?o ?g. }
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- Baad1d8b8a60aa1f7d89089eec7c0de3d hasDbXref "OMIM:619313" @default.
- Baad1d8b8a60aa1f7d89089eec7c0de3d hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- Baad1d8b8a60aa1f7d89089eec7c0de3d hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- Baad1d8b8a60aa1f7d89089eec7c0de3d type Axiom @default.
- Baad1d8b8a60aa1f7d89089eec7c0de3d annotatedProperty IAO_0000115 @default.
- Baad1d8b8a60aa1f7d89089eec7c0de3d annotatedSource MONDO_0030266 @default.
- Baad1d8b8a60aa1f7d89089eec7c0de3d annotatedTarget "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported." @default.