HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

HIES1

http://purl.bioontology.org/ontology/OMIM/147060

HIES1

HIES, AUTOSOMAL DOMINANT

JOB SYNDROME

HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT

C3887645

C4721531

C2936739

17q21

APRF

STAT3

HIES

ADMIO1

http://purl.bioontology.org/ontology/OMIM/MTHU020037

http://purl.bioontology.org/ontology/OMIM/MTHU004117

http://purl.bioontology.org/ontology/OMIM/MTHU023267

http://purl.bioontology.org/ontology/OMIM/MTHU024169

http://purl.bioontology.org/ontology/OMIM/MTHU024167

http://purl.bioontology.org/ontology/OMIM/MTHU024165

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU024173

http://purl.bioontology.org/ontology/OMIM/MTHU013781

http://purl.bioontology.org/ontology/OMIM/MTHU023270

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU013759

http://purl.bioontology.org/ontology/OMIM/MTHU022887

http://purl.bioontology.org/ontology/OMIM/MTHU004968

http://purl.bioontology.org/ontology/OMIM/MTHU024168

http://purl.bioontology.org/ontology/OMIM/MTHU024166

http://purl.bioontology.org/ontology/OMIM/MTHU024172

http://purl.bioontology.org/ontology/OMIM/MTHU024170

http://purl.bioontology.org/ontology/OMIM/MTHU023268

http://purl.bioontology.org/ontology/OMIM/MTHU003527

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU023271

Phenotype description, molecular basis known.

146840

147060

3

pound

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

Onset in infancy [MISCELLANEOUS]

Caused by mutation in the signal transducer and activator of transcription-3 gene (STAT3, 102582.0001) [MOLECULAR BASIS]

T047