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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:spastic tetraplegia, thin corpus callosum, and progressive microcephaly
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Accession:DOID:0070537 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. (DO)
Synonyms:exact_synonym: SPATCCM
 primary_id: MIM:616657
 alt_id: DOID:9004845
 xref: GARD:13425;   ORDO:447997


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 LINC02245 long intergenic non-protein coding RNA 2245 IAGP ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly ClinVar PMID:25741868 NCBI chr 2:64,901,840...64,932,447
Ensembl chr 2:64,901,840...65,056,233 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP
ISS		 ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
OMIM:616657		 ClinVar
MouseDO
OMIM		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97386
    physical disorder 7971
      congenital nervous system abnormality 2014
        microcephaly 1541
          spastic tetraplegia, thin corpus callosum, and progressive microcephaly 2
Path 2
Term Annotations click to browse term
  disease 97386
    disease of anatomical entity 91015
      nervous system disease 53020
        central nervous system disease 38426
          brain disease 36131
            disease of mental health 29578
              developmental disorder of mental health 14907
                specific developmental disorder 9752
                  intellectual disability 7285
                    autosomal recessive intellectual developmental disorder 332
                      spastic tetraplegia, thin corpus callosum, and progressive microcephaly 2
paths to the root