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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:Congenital Ichthyosis with Trichothiodystrophy
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Accession:DOID:9005622 term browser browse the term
Synonyms:primary_id: MESH:C566643
 alt_id: RDO:0014948
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9758621 PMID:11242112 PMID:11709541 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:27085493 PMID:28492532 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      trichothiodystrophy 8
        Congenital Ichthyosis with Trichothiodystrophy 3
          photosensitive trichothiodystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            Genetic Skin Diseases 915
              trichothiodystrophy 8
                Congenital Ichthyosis with Trichothiodystrophy 3
                  photosensitive trichothiodystrophy 1 3
paths to the root