Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	STIFF SKIN SYNDROME
Synonyms	SSKS
ID	http://purl.bioontology.org/ontology/OMIM/184900
altLabel	SSKS
cui	C1861456
Gene Locus	15q21.1
Gene Symbol	GPHYSD2 WMS2 ACMICD MFS1 SSKS ECTOL1 FBN1 MFLS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012428 http://purl.bioontology.org/ontology/OMIM/MTHU027483 http://purl.bioontology.org/ontology/OMIM/MTHU003721 http://purl.bioontology.org/ontology/OMIM/MTHU027484 http://purl.bioontology.org/ontology/OMIM/MTHU027488 http://purl.bioontology.org/ontology/OMIM/MTHU027486 http://purl.bioontology.org/ontology/OMIM/MTHU027489 http://purl.bioontology.org/ontology/OMIM/MTHU027487 http://purl.bioontology.org/ontology/OMIM/MTHU027485
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	184900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	STIFF SKIN SYNDROME
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111561	Human Disease Ontology 123	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118636	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/MESH/C566112	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566112	Medical Subject Headings	LOOM