Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614594
http://purl.bioontology.org/ontology/OMIM/614594
Preferred Name

OLMSTED SYNDROME 1
Synonyms
PPKM1
OLMS1
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PPKM1
OLMS1
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES 1
prefLabel
OLMSTED SYNDROME 1
Gene Symbol
FNEPPK2
OLMS1
TRPV3
Scope Statement
Hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) [MISCELLANEOUS]
Caused by mutation in the transient receptor potential cation channel, subfamily V, member 3 gene (TRPV3, 607066.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000682
http://purl.bioontology.org/ontology/OMIM/MTHU069387
http://purl.bioontology.org/ontology/OMIM/MTHU069391
http://purl.bioontology.org/ontology/OMIM/MTHU036314
http://purl.bioontology.org/ontology/OMIM/MTHU002047
http://purl.bioontology.org/ontology/OMIM/MTHU036315
http://purl.bioontology.org/ontology/OMIM/MTHU069388
http://purl.bioontology.org/ontology/OMIM/MTHU069384
http://purl.bioontology.org/ontology/OMIM/MTHU043393
http://purl.bioontology.org/ontology/OMIM/MTHU036306
http://purl.bioontology.org/ontology/OMIM/MTHU023034
http://purl.bioontology.org/ontology/OMIM/MTHU069386
http://purl.bioontology.org/ontology/OMIM/MTHU036307
http://purl.bioontology.org/ontology/OMIM/MTHU036312
http://purl.bioontology.org/ontology/OMIM/MTHU069389
http://purl.bioontology.org/ontology/OMIM/MTHU002999
http://purl.bioontology.org/ontology/OMIM/MTHU033161
http://purl.bioontology.org/ontology/OMIM/MTHU030802
http://purl.bioontology.org/ontology/OMIM/MTHU069385
http://purl.bioontology.org/ontology/OMIM/MTHU036311
http://purl.bioontology.org/ontology/OMIM/MTHU036303
http://purl.bioontology.org/ontology/OMIM/MTHU069383
http://purl.bioontology.org/ontology/OMIM/MTHU069390
http://purl.bioontology.org/ontology/OMIM/MTHU036295
http://purl.bioontology.org/ontology/OMIM/MTHU036308
http://purl.bioontology.org/ontology/OMIM/MTHU036298
http://purl.bioontology.org/ontology/OMIM/MTHU009306
http://purl.bioontology.org/ontology/OMIM/MTHU036299
http://purl.bioontology.org/ontology/OMIM/MTHU036408
http://purl.bioontology.org/ontology/OMIM/MTHU036313
http://purl.bioontology.org/ontology/OMIM/MTHU036296
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tui
T047
Gene Locus
17p13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614594
Semantic type UMLS property
Has inheritance type
cui
C5542829
OMIM Entry Type
3
OMIM MimType Value
pound
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