Online Mendelian Inheritance in Man - VISS SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619472 http://purl.bioontology.org/ontology/OMIM/619472
Preferred Name	VISS SYNDROME
Synonyms	VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY VISS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY VISS
prefLabel	VISS SYNDROME
Gene Symbol	IPO8 RANBP8 VISS
Scope Statement	Phenotypic variability [MISCELLANEOUS] Caused by mutation in the importin-8 gene (IPO8, 605600.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU074105 http://purl.bioontology.org/ontology/OMIM/MTHU074098 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU001166 http://purl.bioontology.org/ontology/OMIM/MTHU074101 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU003535 http://purl.bioontology.org/ontology/OMIM/MTHU074097 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU074115 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU001174 http://purl.bioontology.org/ontology/OMIM/MTHU011138 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU074099 http://purl.bioontology.org/ontology/OMIM/MTHU074117 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU074096 http://purl.bioontology.org/ontology/OMIM/MTHU004090 http://purl.bioontology.org/ontology/OMIM/MTHU074108 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU074104 http://purl.bioontology.org/ontology/OMIM/MTHU074119 http://purl.bioontology.org/ontology/OMIM/MTHU067064 http://purl.bioontology.org/ontology/OMIM/MTHU036652 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU074110 http://purl.bioontology.org/ontology/OMIM/MTHU011044 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU012133 http://purl.bioontology.org/ontology/OMIM/MTHU007610 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU074100 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU074113 http://purl.bioontology.org/ontology/OMIM/MTHU074112 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU001172 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU013204 http://purl.bioontology.org/ontology/OMIM/MTHU074116 http://purl.bioontology.org/ontology/OMIM/MTHU057777 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU074120 http://purl.bioontology.org/ontology/OMIM/MTHU074106 http://purl.bioontology.org/ontology/OMIM/MTHU071306 http://purl.bioontology.org/ontology/OMIM/MTHU005938 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU018114 http://purl.bioontology.org/ontology/OMIM/MTHU068421 http://purl.bioontology.org/ontology/OMIM/MTHU003537 http://purl.bioontology.org/ontology/OMIM/MTHU074111 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU013906 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU069683 http://purl.bioontology.org/ontology/OMIM/MTHU070306 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU015647 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU074102 http://purl.bioontology.org/ontology/OMIM/MTHU012914 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU074107 http://purl.bioontology.org/ontology/OMIM/MTHU074114 http://purl.bioontology.org/ontology/OMIM/MTHU074118 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU074103 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU074095 http://purl.bioontology.org/ontology/OMIM/MTHU005778 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU012686 http://purl.bioontology.org/ontology/OMIM/MTHU005136 http://purl.bioontology.org/ontology/OMIM/MTHU001436 http://purl.bioontology.org/ontology/OMIM/MTHU005135 http://purl.bioontology.org/ontology/OMIM/MTHU001173 http://purl.bioontology.org/ontology/OMIM/MTHU074109 See more See less
tui	T047
Gene Locus	12p11.21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619472
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5561955
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display