Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Subcortical white matter calcifications
go back to main search page
Accession:HP:0007346 term browser browse the term
Synonyms:xref: UMLS:C1851430



show annotations for term's descendants           Sort by:
 
Subcortical white matter calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP ORPHA:90322 HPO NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP OMIM:133540 ORPHA:90322 ORPHA:90324 HPO NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP ORPHA:90324 HPO NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14887
    Phenotypic abnormality 14884
      Abnormality of the musculoskeletal system 4154
        Abnormality of the skeletal system 3425
          Ectopic calcification 236
            Cerebral calcification 141
              Subcortical white matter calcifications 3
Path 2
Term Annotations click to browse term
  Human phenotype 14887
    Phenotypic abnormality 14884
      Abnormality of the nervous system 10219
        Abnormal nervous system morphology 4076
          Morphological central nervous system abnormality 3926
            Abnormality of brain morphology 2873
              Abnormal forebrain morphology 2151
                Abnormal cerebral morphology 2127
                  Abnormal cerebral cortex morphology 876
                    Abnormal temporal lobe morphology 141
                      Cerebral calcification 141
                        Subcortical white matter calcifications 3
paths to the root