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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:Seckel syndrome
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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.


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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 PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar PMID:25741868 NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
JBrowse link
G Cenpj centromere protein J ISO
ISS
ClinVar Annotator: match by term: Seckel syndrome ClinVar
MouseDO
PMID:18414213 PMID:25741868 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar PMID:24033266 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,793,983...112,804,069
JBrowse link
G Cep63 centrosomal protein 63 ISS MouseDO NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
JBrowse link
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Microcephalic primordial dwarfism ClinVar NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome ClinVar NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404, RGD:10053614 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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 chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,793,983...112,804,069
JBrowse link
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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 Annotator: match by term: Seckel syndrome 10
ClinVar
OMIM
PMID:25105364 PMID:25741868 NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
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 chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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 chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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 More... RGD:11541118, RGD:11541114 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
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 More... NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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 chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
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 More... NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,793,983...112,804,069
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 5 ClinVar NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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 6:88,525,405...88,627,710
Ensembl chr 6:88,525,742...88,627,639
JBrowse link
Seckel syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Seckel syndrome 8 OMIM
ClinVar
PMID:24389050 PMID:25558065 PMID:25741868 NCBI chr20:25,661,652...25,690,598 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 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Seckel syndrome 14
        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 1
        Seckel syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal recessive disease 3444
                Seckel syndrome 14
                  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 1
                  Seckel syndrome 9 1
paths to the root