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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 hyper-IgE recurrent infection syndrome 1, autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant HIES, autosomal dominant autosomal dominant hyper IgE syndrome hyper-IgE recurrent infection syndrome, autosomal dominant 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 AD hyperimmunoglobulin E syndrome Job's syndrome immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4721531 (MONDO:equivalentTo)
  • OMIM:147060 (Orphanet:2314/e)
  • NORD:826 (MONDO:NORD)
  • UMLS:C1968689 (MONDO:relatedTo)
  • DOID:3261 (MONDO:equivalentTo)
  • SCTID:50926003 (MONDO:equivalentTo)
  • NCIT:C126342 (MONDO:equivalentTo)
  • OMIM:146840 (MONDO:equivalentObsolete)
  • MESH:C564135 (MONDO:equivalentTo)
  • EFO:0003775 (MONDO:equivalentTo)
  • Orphanet:2314 (OMIM:147060)
  • MESH:C567925 (https://github.com/monarch-initiative/mondo/issues/2210)
  • GARD:6800 (Orphanet:2314)
Subsets

gard_rare, ordo_disease, rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3804

exactMatch

http://identifiers.org/snomedct/50926003

http://identifiers.org/mesh/C567925

https://omim.org/entry/147060

http://linkedlifedata.com/resource/umls/id/C4721531

http://purl.obolibrary.org/obo/NCIT_C126342

http://www.orpha.net/ORDO/Orphanet_2314

http://purl.obolibrary.org/obo/DOID_3261

http://identifiers.org/mesh/C564135

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019305

has broad synonym

hyperimmunoglobulin E-recurrent infection syndrome

hyper-IgE recurrent infection syndrome

id

MONDO:0007818

relatedMatch

http://linkedlifedata.com/resource/umls/id/C1968689

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0007818

https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome

Term relations