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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;   Unmanageable hair syndrome
 primary_id: MESH:C536939


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 CTD Direct Evidence: marker/mechanism CTD 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 2:179,103,660...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 1 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: PADI3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 1 OMIM
ClinVar		 PMID:22381266 PMID:24629392 PMID:25741868 PMID:27866708 PMID:28492532 More... NCBI chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Uncombable hair syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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 2:179,103,660...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 18969
    syndrome 10889
      Uncombable Hair Syndrome 4
        Uncombable Hair Syndrome 1 2
        Uncombable Hair Syndrome 2 1
        Uncombable Hair Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                Uncombable Hair Syndrome 4
                  Uncombable Hair Syndrome 1 2
                  Uncombable Hair Syndrome 2 1
                  Uncombable Hair Syndrome 3 1
paths to the root