Online Mendelian Inheritance in Man - TRICHOHEPATOENTERIC SYNDROME 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614602 http://purl.bioontology.org/ontology/OMIM/614602
Preferred Name	TRICHOHEPATOENTERIC SYNDROME 2
Synonyms	THES2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	THES2
prefLabel	TRICHOHEPATOENTERIC SYNDROME 2
Gene Symbol	SKIC2 SKI2 THES2 SKI2W SKIV2L
Scope Statement	Onset in the first few months of life [MISCELLANEOUS] Patients may need lifelong total parenteral nutrition [MISCELLANEOUS] Caused by mutation in the SKI2 subunit of superkiller complex gene (SKIC2, 600478.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036321 http://purl.bioontology.org/ontology/OMIM/MTHU015133 http://purl.bioontology.org/ontology/OMIM/MTHU033558 http://purl.bioontology.org/ontology/OMIM/MTHU036326 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU002046 http://purl.bioontology.org/ontology/OMIM/MTHU037251 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU020425 http://purl.bioontology.org/ontology/OMIM/MTHU004859 http://purl.bioontology.org/ontology/OMIM/MTHU036324 http://purl.bioontology.org/ontology/OMIM/MTHU075628 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU005308 http://purl.bioontology.org/ontology/OMIM/MTHU010581 http://purl.bioontology.org/ontology/OMIM/MTHU036327 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU023477 http://purl.bioontology.org/ontology/OMIM/MTHU022778 http://purl.bioontology.org/ontology/OMIM/MTHU032911 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU002943 http://purl.bioontology.org/ontology/OMIM/MTHU037283 http://purl.bioontology.org/ontology/OMIM/MTHU075889 http://purl.bioontology.org/ontology/OMIM/MTHU005387 http://purl.bioontology.org/ontology/OMIM/MTHU023468 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036323 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU023475 http://purl.bioontology.org/ontology/OMIM/MTHU075629 See more See less
tui	T047
Gene Locus	6p21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614602
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3281289
OMIM Entry Type	3
OMIM MimType Value	pound

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