Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/105250 http://purl.bioontology.org/ontology/OMIM/105250
Preferred Name	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
Synonyms	AMYLOIDOSIS IX PCA LICHEN AMYLOIDOSIS, FAMILIAL PCA1 AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHEN PLCA1 AMYLOIDOSIS, PRIMARY CUTANEOUS, 1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AMYLOIDOSIS IX PCA LICHEN AMYLOIDOSIS, FAMILIAL PCA1 AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHEN PLCA1 AMYLOIDOSIS, PRIMARY CUTANEOUS, 1 See more See less
prefLabel	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
Gene Symbol	OSMR OSMRB PLCA1
Scope Statement	Onset may occur in childhood [MISCELLANEOUS] Caused by mutation in the oncostatin-M receptor gene (OSMR, 601743.0001) [MOLECULAR BASIS] Symptoms typically start with severe pruritus on the lower legs [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU060014 http://purl.bioontology.org/ontology/OMIM/MTHU001050 http://purl.bioontology.org/ontology/OMIM/MTHU060015 http://purl.bioontology.org/ontology/OMIM/MTHU060017 http://purl.bioontology.org/ontology/OMIM/MTHU060018 http://purl.bioontology.org/ontology/OMIM/MTHU037280 http://purl.bioontology.org/ontology/OMIM/MTHU060016 http://purl.bioontology.org/ontology/OMIM/MTHU035950 See more See less
tui	T047
Gene Locus	5p13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	105250
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0268398 C4551501
OMIM Entry Type	3
OMIM MimType Value	pound

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