Online Mendelian Inheritance in Man - WARBURG MICRO SYNDROME 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600118 http://purl.bioontology.org/ontology/OMIM/600118
Preferred Name	WARBURG MICRO SYNDROME 1
Synonyms	WARBURG MICRO SYNDROME WARBM MICRO SYNDROME WARBM1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	WARBURG MICRO SYNDROME WARBM MICRO SYNDROME WARBM1
prefLabel	WARBURG MICRO SYNDROME 1
Gene Symbol	WARBM1 MARTS2 P130 RAB3GAP1
Scope Statement	Caused by mutation in the RAB3 GTPase-activating protein subunit 1 gene (RAB3GAP1, 602536.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU017295 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU006627 http://purl.bioontology.org/ontology/OMIM/MTHU006625 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU006629 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU006626 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU006628 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU068214 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000289 http://purl.bioontology.org/ontology/OMIM/MTHU036530 See more See less
tui	T047
Gene Locus	2q21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600118
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5442005 C1838625
Moved from	251500
OMIM Entry Type	3
OMIM MimType Value	pound

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