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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

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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:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:41,999,216...42,032,326
Ensembl chr14:41,999,064...42,032,288 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    physical disorder 5045
      congenital nervous system abnormality 1510
        microcephaly 1133
          spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13212
        central nervous system disease 11795
          brain disease 11074
            disease of mental health 7954
              developmental disorder of mental health 5454
                specific developmental disorder 4477
                  intellectual disability 4287
                    autosomal recessive intellectual developmental disorder 294
                      spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
paths to the root