hyper-IgE recurrent infection syndrome 1, autosomal dominant
Go to external page http://purl.obolibrary.org/obo/MONDO_0007818
A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. [ NCIT:C126342 ]
Synonyms: hyper-IgE syndrome, autosomal dominant AD-HIES autosomal dominant hyperimmunoglobulin E syndrome STAT3 deficiency HIES autosomal dominant Buckley syndrome hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant HIES, autosomal dominant hyper-IgE recurrent infection syndrome, autosomal dominant autosomal dominant hyper IgE syndrome hyperimmunoglobulin E syndrome type 1 autosomal dominant HIES Job syndrome autosomal dominant JOB syndrome hyper Ig E syndrome, autosomal dominant autosomal dominant hyper-IgE syndrome Job's syndrome AD hyperimmunoglobulin E syndrome immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
Term information
- OMIM:147060 (Orphanet:2314/e)
- DOID:3261 (MONDO:equivalentTo)
- UMLS:C4721531 (MONDO:equivalentTo)
- OMIM:146840 (MONDO:equivalentObsolete)
- MESH:C567925 (https://github.com/monarch-initiative/mondo/issues/2210)
- GARD:6800 (MONDO:GARD)
- MEDGEN:1648470 (MONDO:equivalentTo)
- MESH:C564135 (MONDO:equivalentTo)
- Orphanet:2314 (OMIM:147060)
- SCTID:50926003 (MONDO:equivalentTo)
- NCIT:C126342 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, orphanet_rare, clingen
http://identifiers.org/snomedct/50926003
http://identifiers.org/mesh/C567925
http://identifiers.org/medgen/1648470
http://linkedlifedata.com/resource/umls/id/C4721531
http://purl.obolibrary.org/obo/NCIT_C126342
https://omim.org/entry/147060
http://www.orpha.net/ORDO/Orphanet_2314
http://purl.obolibrary.org/obo/DOID_3261
http://identifiers.org/mesh/C564135
hyperimmunoglobulin E-recurrent infection syndrome
hyper-IgE recurrent infection syndrome