Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610708 http://purl.bioontology.org/ontology/OMIM/610708
Preferred Name	OPTIC ATROPHY 5
Synonyms	OPA5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OPA5
prefLabel	OPTIC ATROPHY 5
Gene Symbol	DYMPLE DNM1L OPA5 EMPF1 DVLP DRP1 See more See less
Scope Statement	Slowly progressive [MISCELLANEOUS] Onset in 1st to 3rd decade of life [MISCELLANEOUS] Caused by mutation in the dynamin 1-like gene (DNM1L, 603850.0009) [MOLECULAR BASIS] Three unrelated French families have been reported (last curated November 2017) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036671 http://purl.bioontology.org/ontology/OMIM/MTHU036648 http://purl.bioontology.org/ontology/OMIM/MTHU000023 http://purl.bioontology.org/ontology/OMIM/MTHU000022
tui	T047
Gene Locus	12p11.21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610708
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1853139
OMIM Entry Type	3
OMIM MimType Value	pound

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