Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620357 http://purl.bioontology.org/ontology/OMIM/620357
Preferred Name	DIARRHEA 13
Synonyms	DIAR13
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DIAR13
prefLabel	DIARRHEA 13
Gene Symbol	ACS5 ACSL5 DIAR13 FACL5
Scope Statement	Onset in the first 2 weeks of life [MISCELLANEOUS] Resolution of symptoms after 18 months of age [MISCELLANEOUS] Caused by mutation in the acyl-CoA synthetase long chain family, member-5 gene (ACSL5, 605677.0001) [MOLECULAR BASIS] Based on report of 6 patients from 1 family (last curated April 2023) [MISCELLANEOUS] Some patient improve on medium-chain triglyceride-based formula [MISCELLANEOUS] Most patients require total parenteral nutrition [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003526 http://purl.bioontology.org/ontology/OMIM/MTHU000014 http://purl.bioontology.org/ontology/OMIM/MTHU077153 http://purl.bioontology.org/ontology/OMIM/MTHU077151 http://purl.bioontology.org/ontology/OMIM/MTHU030302 http://purl.bioontology.org/ontology/OMIM/MTHU077152 http://purl.bioontology.org/ontology/OMIM/MTHU024815 http://purl.bioontology.org/ontology/OMIM/MTHU023303 See more See less
tui	T047
Gene Locus	10q25.1-q25.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620357
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5830477
OMIM Entry Type	3
OMIM MimType Value	pound

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