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ENTrichohepatoenteric Syndrome 1 (THES1)
Alias:
Trichohepatoenteric Syndrome
Tricho-Hepato-Enteric Syndrome
Syndromic Diarrhea
Sd/the
Syndromic Diarrhea/tricho-Hepato-Enteric Syndrome
Phenotypic Diarrhea of Infancy
Phenotypic Diarrhea
Thes1
Thes
Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa
Intractable Diarrhea with Phenotypic Anomalies
Diarrhea, Syndromic
Fatal Infantile Diarrhea with Trichorrhexis Nodosa
Trichohepatoenteric Syndrome, Type 1
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Trichohepatoenteric Syndrome 1, also known as trichohepatoenteric syndrome, is related to trichohepatoenteric syndrome 2 and congenital diarrhea, and has symptoms including infantile diarrhea and thin, sparse hair. An important gene associated with Trichohepatoenteric Syndrome 1 is SKIC3 (SKI3 Subunit Of Superkiller Complex), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and rRNA processing in the nucleus and cytosol. Affiliated tissues include liver and skin, and related phenotypes are abnormal facial shape and immunodeficiency
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Basic Information
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MALACARDS
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MGI
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