Online Mendelian Inheritance in Man - LEUKODYSTROPHY, HYPOMYELINATING, 17 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618006 http://purl.bioontology.org/ontology/OMIM/618006
Preferred Name	LEUKODYSTROPHY, HYPOMYELINATING, 17
Synonyms	HLD17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HLD17
prefLabel	LEUKODYSTROPHY, HYPOMYELINATING, 17
Gene Symbol	JTV1 HLD17 AIMP2
Scope Statement	Onset in infancy [MISCELLANEOUS] Caused by mutation in the aminoacyl tRNA complex-interacting multifunctional protein 2 gene (AIMP2, 600859.0001) [MOLECULAR BASIS] Two consanguineous families of Indian descent have been reported (last curated June 2018) [MISCELLANEOUS] Death in childhood may occur [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU053234 http://purl.bioontology.org/ontology/OMIM/MTHU061040 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU000258 http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU001954 http://purl.bioontology.org/ontology/OMIM/MTHU055867 http://purl.bioontology.org/ontology/OMIM/MTHU036369 http://purl.bioontology.org/ontology/OMIM/MTHU002002 http://purl.bioontology.org/ontology/OMIM/MTHU061249 http://purl.bioontology.org/ontology/OMIM/MTHU052548 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU052656 http://purl.bioontology.org/ontology/OMIM/MTHU061247 http://purl.bioontology.org/ontology/OMIM/MTHU031791 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU047153 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU061251 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU004915 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU009464 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU061248 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU061250 See more See less
tui	T047
Gene Locus	7p22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618006
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4693912
OMIM Entry Type	3
OMIM MimType Value	pound

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