Online Mendelian Inheritance in Man - GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617093 http://purl.bioontology.org/ontology/OMIM/617093
Preferred Name	GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
Synonyms	GRIDHH
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GRIDHH
prefLabel	GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
Gene Symbol	IARS1 IARS GRIDHH
Scope Statement	Four unrelated patients have been reported (last curated August 2018) [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the isoleucyl-tRNA synthetase gene (IARS, 600709.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU062012 http://purl.bioontology.org/ontology/OMIM/MTHU024688 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU062011 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU056020 http://purl.bioontology.org/ontology/OMIM/MTHU062013 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU056019 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU024633 http://purl.bioontology.org/ontology/OMIM/MTHU004828 http://purl.bioontology.org/ontology/OMIM/MTHU056021 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU013529 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU055514 http://purl.bioontology.org/ontology/OMIM/MTHU011439 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	9q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617093
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310720
OMIM Entry Type	3
OMIM MimType Value	pound

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