Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619420
http://purl.bioontology.org/ontology/OMIM/619420
Preferred Name

MARTSOLF SYNDROME 2
Synonyms
MARTS2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MARTS2
prefLabel
MARTSOLF SYNDROME 2
Gene Symbol
WARBM1
MARTS2
P130
RAB3GAP1
Scope Statement
Caused by mutation in the RAB3 GTPase-activating protein, catalytic subunit (RAB3GAP1, 602536.0013) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU064174
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU006625
http://purl.bioontology.org/ontology/OMIM/MTHU005283
http://purl.bioontology.org/ontology/OMIM/MTHU002725
http://purl.bioontology.org/ontology/OMIM/MTHU001237
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU005671
http://purl.bioontology.org/ontology/OMIM/MTHU009611
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU002328
http://purl.bioontology.org/ontology/OMIM/MTHU068869
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU000289
http://purl.bioontology.org/ontology/OMIM/MTHU004823
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tui
T047
Gene Locus
2q21.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619420
Semantic type UMLS property
Has inheritance type
cui
C5543626
OMIM Entry Type
3
OMIM MimType Value
pound
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