Online Mendelian Inheritance in Man - PONTOCEREBELLAR HYPOPLASIA, TYPE 2A - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/277470 http://purl.bioontology.org/ontology/OMIM/277470
Preferred Name	PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
Synonyms	PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY VOLENDAM NEURODEGENERATIVE DISEASE PCH2A PCH2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY VOLENDAM NEURODEGENERATIVE DISEASE PCH2A PCH2
prefLabel	PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
Gene Symbol	SEN54 PCH2A PCH4 TSEN54 PCH5
Scope Statement	Onset at birth [MISCELLANEOUS] Caused by mutation in the tRNA splicing endonuclease, subunit 54 gene (TSEN54, 608755.0001) [MOLECULAR BASIS] Death in childhood may occur [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU031987 http://purl.bioontology.org/ontology/OMIM/MTHU032664 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU008396 http://purl.bioontology.org/ontology/OMIM/MTHU008795 http://purl.bioontology.org/ontology/OMIM/MTHU025906 http://purl.bioontology.org/ontology/OMIM/MTHU010506 http://purl.bioontology.org/ontology/OMIM/MTHU023235 http://purl.bioontology.org/ontology/OMIM/MTHU032663 http://purl.bioontology.org/ontology/OMIM/MTHU045688 http://purl.bioontology.org/ontology/OMIM/MTHU045686 http://purl.bioontology.org/ontology/OMIM/MTHU031991 http://purl.bioontology.org/ontology/OMIM/MTHU002761 http://purl.bioontology.org/ontology/OMIM/MTHU032666 http://purl.bioontology.org/ontology/OMIM/MTHU008797 http://purl.bioontology.org/ontology/OMIM/MTHU032665 http://purl.bioontology.org/ontology/OMIM/MTHU000709 http://purl.bioontology.org/ontology/OMIM/MTHU008794 http://purl.bioontology.org/ontology/OMIM/MTHU031986 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU008796 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	17q25.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	277470
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1848526
OMIM Entry Type	3
OMIM MimType Value	pound

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