Online Mendelian Inheritance in Man - ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617669 http://purl.bioontology.org/ontology/OMIM/617669
Preferred Name	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
Synonyms	PEBAS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PEBAS
prefLabel	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
Gene Symbol	PEBAS TTC15 TRAPPC12
Scope Statement	Caused by mutation in the trafficking protein particle complex, subunit 12 gene (TRAPPC12, 614139.0001) [MOLECULAR BASIS] Three patients from 2 unrelated families have been reported (last curated September 2017) [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001739 http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU059571 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU059570 http://purl.bioontology.org/ontology/OMIM/MTHU056651 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU058048 http://purl.bioontology.org/ontology/OMIM/MTHU044558 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU050701 http://purl.bioontology.org/ontology/OMIM/MTHU002761 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001896 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU003333 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU042911 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU008796 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU059569 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	2p25.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617669
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5567229
OMIM Entry Type	3
OMIM MimType Value	pound

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