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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/222470
http://purl.bioontology.org/ontology/OMIM/222470
|
|---|---|
| Preferred Name | TRICHOHEPATOENTERIC SYNDROME 1 |
| Synonyms |
DIARRHEA, SYNDROMIC
DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
THE SYNDROME
THES1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DIARRHEA, SYNDROMIC
DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
THE SYNDROME
THES1
|
|---|---|
| prefLabel | TRICHOHEPATOENTERIC SYNDROME 1
|
| Gene Symbol |
SKIC3
TTC37
KIAA0372
|
| Scope Statement | Onset usually in first month of life [MISCELLANEOUS]
Often fatal due in infancy due to intractable diarrhea [MISCELLANEOUS]
Caused by mutation in the SKI3 subunit of superkiller complex gene (SKIC3, 614589.0001) [MOLECULAR BASIS]
Patients need lifelong total parenteral nutrition [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q15
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 222470
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1857276
C4551982
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |