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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr20:4,530,328...4,536,085
Ensembl chr20:4,530,342...4,536,209
JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
PMID:24033266 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
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:24088041, PMID:25326635, PMID:25741868, PMID:26633545 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar Annotator: match by OMIM:222470
OMIM
ClinVar
PMID:20176027, PMID:21120949, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skiv2l Ski2 like RNA helicase ISO ClinVar Annotator: match by OMIM:614602
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
OMIM
ClinVar
PMID:22444670, PMID:24033266, PMID:25326635, PMID:25741868, PMID:27431780, PMID:28492532, PMID:32313153 NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      trichohepatoenteric syndrome 4
        trichohepatoenteric syndrome 1 2
        trichohepatoenteric syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                trichohepatoenteric syndrome 4
                  trichohepatoenteric syndrome 1 2
                  trichohepatoenteric syndrome 2 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.