Online Mendelian Inheritance in Man - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610217 http://purl.bioontology.org/ontology/OMIM/610217
Preferred Name	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Synonyms	NEUROAXONAL DYSTROPHY, ATYPICAL NBIA2B KARAK SYNDROME NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEUROAXONAL DYSTROPHY, ATYPICAL NBIA2B KARAK SYNDROME NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
prefLabel	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Gene Symbol	PARK14 PLA2G6 IPLA2 NBIA2A INAD1 NBIA2B See more See less
Scope Statement	Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0002) [MOLECULAR BASIS] Childhood onset (average 4 to 6 years) [MISCELLANEOUS] Allelic disorder to infantile neuroaxonal dystrophy (256600) [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU012810 http://purl.bioontology.org/ontology/OMIM/MTHU036543 http://purl.bioontology.org/ontology/OMIM/MTHU036554 http://purl.bioontology.org/ontology/OMIM/MTHU022126 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU025221 http://purl.bioontology.org/ontology/OMIM/MTHU022129 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU022128 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU000778 http://purl.bioontology.org/ontology/OMIM/MTHU022127 http://purl.bioontology.org/ontology/OMIM/MTHU004473 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU022130 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU022125 http://purl.bioontology.org/ontology/OMIM/MTHU025224 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU001205 http://purl.bioontology.org/ontology/OMIM/MTHU004285 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU025223 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036678 http://purl.bioontology.org/ontology/OMIM/MTHU001776 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU000555 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU036372 http://purl.bioontology.org/ontology/OMIM/MTHU025222 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	22q13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610217
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1857747 C2750220
Moved from	608395
OMIM Entry Type	3
OMIM MimType Value	pound

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