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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:Uncombable Hair Syndrome
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Accession:DOID:9005997 term browser browse the term
Synonyms:exact_synonym: Cheveux incoiffables;   Pili trianguli et Canaliculi;   UHS;   UHS1;   Uncombable hair syndrome 1;   Unmanageable hair syndrome
 primary_id: MESH:C536939;   RDO:0002668
 alt_id: OMIM:191480
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Uncombable Hair Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Uncombable hair syndrome ClinVar
OMIM
PMID:22381266, PMID:24629392, PMID:27866708 NCBI chr 5:159,309,000...159,336,429
Ensembl chr 5:159,309,000...159,336,429
JBrowse link
G Tchh trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:193,778,022...193,784,793
Ensembl chr 2:193,778,042...193,783,761
JBrowse link
G Tgm3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:122,544,783...122,580,836
Ensembl chr 3:122,544,788...122,580,905
JBrowse link
Uncombable Hair Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Uncombable hair syndrome 2 ClinVar
OMIM
PMID:24183230, PMID:27866708 NCBI chr 3:122,544,783...122,580,836
Ensembl chr 3:122,544,788...122,580,905
JBrowse link
Uncombable Hair Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Uncombable hair syndrome 3 OMIM
ClinVar
PMID:25741868, PMID:27866708 NCBI chr 2:193,778,022...193,784,793
Ensembl chr 2:193,778,042...193,783,761
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Uncombable Hair Syndrome 3
        Uncombable Hair Syndrome 2 1
        Uncombable Hair Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            hair disease 262
              Uncombable Hair Syndrome 3
                Uncombable Hair Syndrome 2 1
                Uncombable Hair Syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.