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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.


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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 1 ClinVar
OMIM		 PMID:22381266 PMID:24629392 PMID:27866708 NCBI chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		JBrowse link
G Tchh trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:179,105,246...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		JBrowse link
G Tgm3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		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 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		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 2:179,105,246...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Uncombable Hair Syndrome 3
        Uncombable Hair Syndrome 2 1
        Uncombable Hair Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            hair disease 255
              Uncombable Hair Syndrome 3
                Uncombable Hair Syndrome 2 1
                Uncombable Hair Syndrome 3 1
paths to the root