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ONTOLOGY REPORT - ANNOTATIONS


Term:trichohepatoenteric syndrome
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Accession:DOID:0111414 term browser browse the term
Definition:An autosomal recessive disease 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: Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa;   SD/THE;   Syndromic diarrhea/Tricho-hepato-enteric syndrome;   THE Syndrome;   THES;   Tricho-hepato-enteric syndrome;   phenotypic diarrhea;   syndromic diarrhea
 primary_id: MESH:C565627
 alt_id: DOID:9003374
 xref: GARD:5258;   OMIM:PS222470;   ORDO:84064
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trichohepatoenteric syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E JBrowse link 20 4,530,328 4,536,085 RGD:8554872
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:11554173
RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:11554173
RGD:8554872
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:7240710
RGD:8554872
trichohepatoenteric syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      trichohepatoenteric syndrome 4
        trichohepatoenteric syndrome 1 2
        trichohepatoenteric syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                trichohepatoenteric syndrome 4
                  trichohepatoenteric syndrome 1 2
                  trichohepatoenteric syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.