Online Mendelian Inheritance in Man - NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620747 http://purl.bioontology.org/ontology/OMIM/620747
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
Synonyms	NEDPBA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDPBA
prefLabel	NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
Gene Symbol	C2orf79 NEDPBA PTRHD1
Scope Statement	Caused by mutation in the peptidyl-tRNA hydrolase domain-containing 1 gene (PTRHD1, 617342.0001) [MOLECULAR BASIS] Intrafamilial variability [MISCELLANEOUS] Onset of parkinsonism usually in the third decade [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU078537 http://purl.bioontology.org/ontology/OMIM/MTHU073061 http://purl.bioontology.org/ontology/OMIM/MTHU000327 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU041732 http://purl.bioontology.org/ontology/OMIM/MTHU065068 http://purl.bioontology.org/ontology/OMIM/MTHU006931 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU034427 http://purl.bioontology.org/ontology/OMIM/MTHU038079 http://purl.bioontology.org/ontology/OMIM/MTHU004323 http://purl.bioontology.org/ontology/OMIM/MTHU000365 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU003270 http://purl.bioontology.org/ontology/OMIM/MTHU016564 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU064767 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000402 http://purl.bioontology.org/ontology/OMIM/MTHU059987 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	2p23.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620747
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5935590
OMIM Entry Type	3
OMIM MimType Value	pound

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