Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Seckel syndrome
go back to main search page
Accession:DOID:0050569 term browser browse the term
Definition:A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)
Synonyms:exact_synonym: Harper's syndrome;   SCKL;   Virchow-Seckel dwarfism;   bird-headed dwarfism;   microcephalic primordial dwarfism
 xref: GARD:8562;   NCI:C125488;   OMIM:PS210600;   ORDO:808
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Seckel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO
ISS
ClinVar Annotator: match by term: Seckel syndrome ClinVar
MouseDO
PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) RGD PMID:26436113 RGD:13450906 NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
JBrowse link
G Cenpj centromere protein J ISO
ISS
ClinVar Annotator: match by term: Seckel syndrome ClinVar
MouseDO
PMID:18414213, PMID:25741868 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar PMID:24033266 NCBI chr 3:117,822,799...117,894,856 JBrowse link
G Cep63 centrosomal protein 63 ISS MouseDO NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar NCBI chr18:3,134,630...3,227,702
Ensembl chr18:3,162,543...3,227,688
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase susceptibility ISO DNA:point mutation:2101A>G (human)
ClinVar Annotator: match by term: Seckel syndrome 1
ClinVar Annotator: match by OMIM:210600
ClinVar
OMIM
PMID:10691732, PMID:11721054, PMID:12640452, PMID:15987455, PMID:17010193, PMID:18414213, PMID:23111928, PMID:23144622, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386, PMID:12640452, PMID:19620979 RGD:1599404, RGD:10053614 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213, PMID:20978018, PMID:25741868, PMID:28492532 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr 3:117,822,799...117,894,856 JBrowse link
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
Seckel syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: SECKEL SYNDROME 10 ClinVar
OMIM
PMID:25105364 NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
JBrowse link
Seckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Seckel syndrome 2
ClinVar Annotator: match by term: RBBP8-Related Disorders
ClinVar Annotator: match by OMIM:606744
OMIM
ClinVar
PMID:11781686, PMID:18414213, PMID:24389050 NCBI chr18:3,134,630...3,227,702
Ensembl chr18:3,162,543...3,227,688
JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
ClinVar Annotator: match by OMIM:613676
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213, PMID:20522431, PMID:20978018, PMID:24033266, PMID:24402816, PMID:25741868, PMID:26467025, PMID:26752647, PMID:28492532, PMID:30311386, PMID:20522431, PMID:23166506 RGD:11541118, RGD:11541114 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213, PMID:20522431, PMID:24402816, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
JBrowse link
Seckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 5 ClinVar NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Seckel syndrome 5
ClinVar Annotator: match by term: CEP152-Related Disorders
ClinVar Annotator: match by OMIM:613823
OMIM
ClinVar
PMID:18414213, PMID:20598275, PMID:21131973, PMID:25741868, PMID:25996639, PMID:28492532 NCBI chr 3:117,822,799...117,894,856 JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 5 ClinVar NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
JBrowse link
Seckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Seckel syndrome 6
ClinVar Annotator: match by OMIM:614728
OMIM
ClinVar
PMID:21983783, PMID:25741868 NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014
JBrowse link
Seckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nin ninein ISO ClinVar Annotator: match by term: Seckel syndrome 7
ClinVar Annotator: match by OMIM:614851
OMIM
ClinVar
PMID:22933543, PMID:25741868, PMID:28492532 NCBI chr 6:92,423,412...92,527,776
Ensembl chr 6:92,433,381...92,527,711
JBrowse link
Seckel syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: SECKEL SYNDROME 9
ClinVar Annotator: match by term: Seckel syndrome 9
ClinVar
OMIM
PMID:25741868, PMID:26595769 NCBI chr 8:116,730,170...116,750,528
Ensembl chr 8:116,730,641...116,750,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Seckel syndrome 11
        Seckel Syndrome 3 0
        Seckel syndrome 1 4
        Seckel syndrome 10 1
        Seckel syndrome 2 2
        Seckel syndrome 4 2
        Seckel syndrome 5 3
        Seckel syndrome 6 1
        Seckel syndrome 7 1
        Seckel syndrome 8 0
        Seckel syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Seckel syndrome 11
                  Seckel Syndrome 3 0
                  Seckel syndrome 1 4
                  Seckel syndrome 10 1
                  Seckel syndrome 2 2
                  Seckel syndrome 4 2
                  Seckel syndrome 5 3
                  Seckel syndrome 6 1
                  Seckel syndrome 7 1
                  Seckel syndrome 8 0
                  Seckel syndrome 9 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.