RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hyper IgE recurrent infection syndrome 2
Accession: DOID:0080594
browse the term
Definition: A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)
Synonyms: exact_synonym: DOCK8-RELATED CONDITION; HIES2; hyper-IgE recurrent infection syndrome 2, autosomal recessive; hyper-IgE syndrome 2, autosomal recessive, with recurrent infections
primary_id: OMIM:243700
xref: GARD:2816 ; ORDO:217390
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:28492532
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS DNA:mutation:cds:
OMIM ClinVar RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:21324546 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26467025 PMID:26573532 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:21763205 More...
RGD:40907054
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:28492532
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:33290277
NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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