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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:trichohepatoenteric syndrome
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Accession:DOID:0111414 term browser browse the term
Definition:A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. (DO)
Synonyms:exact_synonym: SD/THE;   THE syndrome;   THES;   fatal infantile diarrhea with trichorrhexis nodosa;   phenotypic diarrhea;   syndromic diarrhea;   syndromic diarrhea/tricho-hepato-enteric syndrome;   tricho-hepato-enteric syndrome
 primary_id: MESH:C565627
 xref: GARD:5258;   OMIM:PS222470;   ORDO:84064

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trichohepatoenteric syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chrNW_004936727:1,589,942...1,596,009
Ensembl chrNW_004936727:1,589,942...1,598,182 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chrNW_004936727:1,579,208...1,590,215
Ensembl chrNW_004936727:1,579,212...1,590,252 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chrNW_004936523:7,786,629...7,885,220
Ensembl chrNW_004936523:7,786,649...7,888,341 		JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chrNW_004936592:5,454,860...5,531,285
Ensembl chrNW_004936592:5,457,582...5,531,000 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar		 PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 More... NCBI chrNW_004936523:7,786,629...7,885,220
Ensembl chrNW_004936523:7,786,649...7,888,341 		JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chrNW_004936727:1,579,208...1,590,215
Ensembl chrNW_004936727:1,579,212...1,590,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      trichohepatoenteric syndrome 4
        trichohepatoenteric syndrome 1 2
        trichohepatoenteric syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                trichohepatoenteric syndrome 4
                  trichohepatoenteric syndrome 1 2
                  trichohepatoenteric syndrome 2 1
paths to the root