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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
 xref: MESH:C536939;   MONDO:0008621


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 5:158,372,764...158,400,193
Ensembl chr 5:158,372,764...158,400,193 		JBrowse link
G Tchh trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:181,787,109...181,795,463
Ensembl chr 2:181,787,109...181,795,463 		JBrowse link
G Tgm3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:137,681,809...137,717,219 		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 5:158,372,764...158,400,193
Ensembl chr 5:158,372,764...158,400,193 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Uncombable hair syndrome 1 ClinVar PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410 PMID:16916875 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		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: TGM3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 2 OMIM
ClinVar		 PMID:24183230 PMID:25741868 PMID:27866708 PMID:28492532 NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:137,681,809...137,717,219 		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 2:181,787,109...181,795,463
Ensembl chr 2:181,787,109...181,795,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      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 19150
    Pathological Conditions, Signs and Symptoms 13670
      Signs and Symptoms 11240
        Neurologic Manifestations 10485
          sensory system disease 7403
            skin disease 4342
              hair disease 334
                Uncombable Hair Syndrome 4
                  Uncombable Hair Syndrome 1 2
                  Uncombable Hair Syndrome 2 1
                  Uncombable Hair Syndrome 3 1
paths to the root