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: autosomal dominant severe congenital neutropenia
Accession: DOID:0112130
browse the term
Definition: A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. (DO)
Synonyms: xref: GARD:9558
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:17391497 PMID:17576681 PMID:18028488 PMID:18611981 PMID:19036076 PMID:20049848 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22148006 PMID:22510773 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25703294 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31248972 PMID:31321910 PMID:31839986 PMID:32581362 PMID:32888943 PMID:33318085 PMID:33942430 PMID:34093558 PMID:34340247 PMID:34573280 More...
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:24753205
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
ClinVar
PMID:16648375 PMID:25741868 PMID:28492532
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant
OMIM ClinVar
PMID:32325141
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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Clpb
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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Evi5
ecotropic viral integration site 5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,875,601...2,021,678
Ensembl chr14:1,875,647...2,021,678
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
OMIM CTD ClinVar
PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Snord21
small nucleolar RNA, C/D box 21
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
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Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
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Clpb
ClpB family mitochondrial disaggregase
ISO
ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661
NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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