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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:severe congenital neutropenia
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Accession:DOID:0050590 term browser browse the term
Definition:A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)
Synonyms:exact_synonym: congenital neutropenia;   infantile genetic agranulocytosis;   primary neutropenia;   severe infantile genetic agranulocytosis;   severe infantile genetic neutropenia
 xref: GARD:13592;   OMIM:PS202700;   ORDO:42738;   ORDO:486;   ORDO:86788
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor disease_progression ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362, PMID:16985178, PMID:11110716 RGD:10450485, RGD:10450533 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600 		JBrowse link
G Elane elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
DNA:mutation:intron:c.597+1G>A (human)		 RGD PMID:10581030, PMID:19620402, PMID:21425445, PMID:24616599 RGD:1598891, RGD:10450525, RGD:10450519, RGD:10450514 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232 		JBrowse link
G Fcho1 FCH and mu domain containing endocytic adaptor 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr16:20,136,008...20,153,344
Ensembl chr16:20,136,008...20,148,867 		JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO
ISS		 ClinVar Annotator: match by term: Severe congenital neutropenia
OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022		 ClinVar
MouseDO		 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr 2:189,330,900...189,333,305
Ensembl chr 2:189,330,902...189,333,322 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: congenital neutropenia ClinVar PMID:24753205 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464 		JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:19118303 PMID:20799326 PMID:25491320 PMID:25741868 PMID:28492532 PMID:31564432 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425 		JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia, severe congenital 1, autosomal dominant
ClinVar Annotator: match by OMIM:202700		 OMIM
ClinVar		 PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:18028488 PMID:18611981 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232 		JBrowse link
G 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 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464 		JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Severe congenital neutropenia 2, autosomal dominant OMIM
ClinVar		 PMID:11807637 PMID:12778173 PMID:20560965 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371 		JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome
ClinVar Annotator: match by term: Severe congenital neutropenia 3, autosomal recessive
ClinVar Annotator: match by OMIM:610738		 OMIM
ClinVar		 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20220065 PMID:21108402 PMID:21344642 PMID:22102707 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28492532 PMID:32581362 NCBI chr 2:189,330,900...189,333,305
Ensembl chr 2:189,330,902...189,333,322 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:198,123,747...198,184,739
Ensembl chr 2:198,123,748...198,184,739 		JBrowse link
severe congenital neutropenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia 4, autosomal recessive
ClinVar Annotator: match by OMIM:612541		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19118303 PMID:19775295 PMID:20616219 PMID:20717171 PMID:22050868 PMID:22469094 PMID:23180359 PMID:23298686 PMID:23441086 PMID:23758768 PMID:24033266 PMID:24549407 PMID:24750412 PMID:25326635 PMID:25391451 PMID:25491320 PMID:25492228 PMID:25741868 PMID:27577878 PMID:28492532 PMID:31564432 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425 		JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive
ClinVar Annotator: match by OMIM:615285		 OMIM
ClinVar		 PMID:23599270 PMID:23738510 PMID:25741868 PMID:28492532 PMID:30294941 NCBI chr 2:198,123,747...198,184,739
Ensembl chr 2:198,123,748...198,184,739 		JBrowse link
severe congenital neutropenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by OMIM:616022
ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.H44Y (human)		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346, PMID:25129144, PMID:25851723 RGD:11531099, RGD:11531098 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617 		JBrowse link
severe congenital neutropenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive ClinVar
OMIM		 PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24753537 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26324699 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31321910 PMID:32581362 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600 		JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT ClinVar
OMIM		 PMID:28972538 PMID:29914977 NCBI chr 6:75,996,629...76,035,768
Ensembl chr 6:75,996,643...76,034,083 		JBrowse link
X-linked severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Severe congenital neutropenia X-linked ClinVar PMID:24033266 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia
ClinVar Annotator: match by term: Severe congenital neutropenia X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300299		 OMIM
ClinVar
CTD		 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757562 PMID:8757563 PMID:8931701 PMID:9326235 PMID:9536098 PMID:9683546 PMID:10202051 PMID:10447259 PMID:10575547 PMID:10653325 PMID:10691337 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11793485 PMID:11877312 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:15284122 PMID:15497008 PMID:16091449 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17213309 PMID:17250667 PMID:17400488 PMID:17576681 PMID:17703096 PMID:17724125 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19817875 PMID:20173115 PMID:20232122 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23807894 PMID:24210885 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25476427 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:26261240 PMID:26368308 PMID:27264129 PMID:27566838 PMID:28492532 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28931895 PMID:28956125 PMID:29991546 PMID:31064749 PMID:31352750 PMID:31354712 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      severe congenital neutropenia 11
        X-linked severe congenital neutropenia 2
        autosomal dominant severe congenital neutropenia + 2
        severe congenital neutropenia 1 2
        severe congenital neutropenia 3 2
        severe congenital neutropenia 4 + 1
        severe congenital neutropenia 5 1
        severe congenital neutropenia 6 1
        severe congenital neutropenia 7 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Hemic and Lymphatic Diseases 2218
        hematopoietic system disease 1797
          leukocyte disease 519
            leukopenia 126
              agranulocytosis 63
                neutropenia 59
                  severe congenital neutropenia 11
                    X-linked severe congenital neutropenia 2
                    autosomal dominant severe congenital neutropenia + 2
                    severe congenital neutropenia 1 2
                    severe congenital neutropenia 3 2
                    severe congenital neutropenia 4 + 1
                    severe congenital neutropenia 5 1
                    severe congenital neutropenia 6 1
                    severe congenital neutropenia 7 1
paths to the root