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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 1
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Accession:DOID:0070007 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. (DO)
Synonyms:exact_synonym: SCKL1;   Seckel-type dwarfism;   microcephalic primordial dwarfism 1;   microcephalic primordial dwarfism I;   nanocephalic dwarfism
 broad_synonym: ATR-RELATED CONDITION
 primary_id: MESH:C537533
 alt_id: OMIM:210600


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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: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1		 OMIM
RGD
ClinVar		 PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261 		JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G CEP152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233 		JBrowse link
G PCNT pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Seckel syndrome 13
        Seckel syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1362
                    microcephaly 1119
                      Seckel syndrome 1 4
paths to the root