Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614224 http://purl.bioontology.org/ontology/OMIM/614224
Preferred Name	RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Synonyms	RAMSVPS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RAMSVPS
prefLabel	RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Gene Symbol	IGFBP7 RAMSVPS MAC25
Scope Statement	Caused by mutation in the insulin-like growth factor-binding protein-7 gene (IGFBP7, 602867.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU035417 http://purl.bioontology.org/ontology/OMIM/MTHU035416 http://purl.bioontology.org/ontology/OMIM/MTHU069254 http://purl.bioontology.org/ontology/OMIM/MTHU069253 http://purl.bioontology.org/ontology/OMIM/MTHU035415 http://purl.bioontology.org/ontology/OMIM/MTHU024038 http://purl.bioontology.org/ontology/OMIM/MTHU035420 http://purl.bioontology.org/ontology/OMIM/MTHU035414 See more See less
tui	T047
Gene Locus	4q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614224
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3280205
OMIM Entry Type	3
OMIM MimType Value	pound

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