Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly
go back to main search page
Accession:DOID:9004845 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. (OMIM)
Synonyms:exact_synonym: SPATCCM
 primary_id: OMIM:616657
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar
PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 PMID:27193218 PMID:28492532 PMID:29989513 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital nervous system abnormality 978
        microcephaly 873
          Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                complex cortical dysplasia with other brain malformations 1164
                  Malformations of Cortical Development, Group I 1024
                    microcephaly 873
                      Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 1
paths to the root