Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	MASS syndrome
Synonyms	Mass phenotype Overlap connective tissue disease
ID	http://purl.bioontology.org/ontology/MESH/C536030
altLabel	Mass phenotype Overlap connective tissue disease
cui	C1858556
HM	D008945 D009216 D012871
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009216 http://purl.bioontology.org/ontology/MESH/D008945 http://purl.bioontology.org/ontology/MESH/D012871
MDA	20100825
MeSH Frequency	20
MMR	20121105
notation	C536030
prefLabel	MASS syndrome
SC	3
Scope Statement	Autosomal dominant disorder of CONNECTIVE TISSUE characterized by myopia, mitral valve prolapse, borderline and non-progressive aortic enlargement, and nonspecific skin and skeletal features (MASS). It can be associated with mutations in the gene encoding FIBRILLIN
TERMUI	T738024 T738023 T738025
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/134797	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/604308	OMIM	CUI
http://www.orpha.net/ORDO/Orphanet_99715	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/604308	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536030	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_14288	HRDO	LOOM