Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C567716 http://purl.bioontology.org/ontology/MESH/C567716
Preferred Name	Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Synonyms	Urban-Rifkin-Davis Syndrome
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Urban-Rifkin-Davis Syndrome
prefLabel	Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Scope Statement	LTBP4 mutations
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D003483 D005767 D002357 D012140 D014570
SC	3
TERMUI	T810937 T810938
TH	OMIM (2013)
MMR	20121105
notation	C567716
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C2750804
MeSH Frequency	2
DSC	20121105
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D002357 http://purl.bioontology.org/ontology/MESH/D012140 http://purl.bioontology.org/ontology/MESH/D005767 http://purl.bioontology.org/ontology/MESH/D003483 http://purl.bioontology.org/ontology/MESH/D014570
MDA	20121105

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