Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617917 http://purl.bioontology.org/ontology/OMIM/617917
Preferred Name	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
Synonyms	NBIA8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NBIA8
prefLabel	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
Gene Symbol	CAT1 CRAT NBIA8
Scope Statement	Onset in early childhood [MISCELLANEOUS] One patient, born of consanguineous Turkish parents, has been reported (last curated March 2018) [MISCELLANEOUS] Caused by mutation in the carnitine acetyltransferase gene (CRAT, 600184.0001) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001836 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU060922 http://purl.bioontology.org/ontology/OMIM/MTHU002478 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU060923 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU009353 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU060924 See more See less
tui	T047
Gene Locus	9q34.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617917
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4693587
OMIM Entry Type	3
OMIM MimType Value	pound

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