Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619656
http://purl.bioontology.org/ontology/OMIM/619656
Preferred Name

LOEYS-DIETZ SYNDROME 6
Synonyms
LDS6
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LDS6
prefLabel
LOEYS-DIETZ SYNDROME 6
Gene Symbol
SMAD2
MADH2
CHTD8
LDS6
JV18
Scope Statement
Caused by mutation in the SMAD family member-2 gene (SMAD2, 601366.0003) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU074490
http://purl.bioontology.org/ontology/OMIM/MTHU000541
http://purl.bioontology.org/ontology/OMIM/MTHU036368
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU034632
http://purl.bioontology.org/ontology/OMIM/MTHU074493
http://purl.bioontology.org/ontology/OMIM/MTHU074495
http://purl.bioontology.org/ontology/OMIM/MTHU004733
http://purl.bioontology.org/ontology/OMIM/MTHU074497
http://purl.bioontology.org/ontology/OMIM/MTHU001154
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU063324
http://purl.bioontology.org/ontology/OMIM/MTHU030363
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU000436
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/MTHU074492
http://purl.bioontology.org/ontology/OMIM/MTHU000097
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU074489
http://purl.bioontology.org/ontology/OMIM/MTHU017248
http://purl.bioontology.org/ontology/OMIM/MTHU071306
http://purl.bioontology.org/ontology/OMIM/MTHU074491
http://purl.bioontology.org/ontology/OMIM/MTHU018164
http://purl.bioontology.org/ontology/OMIM/MTHU069683
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU018359
http://purl.bioontology.org/ontology/OMIM/MTHU014943
http://purl.bioontology.org/ontology/OMIM/MTHU010058
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU020042
http://purl.bioontology.org/ontology/OMIM/MTHU006858
http://purl.bioontology.org/ontology/OMIM/MTHU074496
http://purl.bioontology.org/ontology/OMIM/MTHU074488
http://purl.bioontology.org/ontology/OMIM/MTHU001436
http://purl.bioontology.org/ontology/OMIM/MTHU005547
http://purl.bioontology.org/ontology/OMIM/MTHU074494
http://purl.bioontology.org/ontology/OMIM/MTHU000487
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tui
T047
Gene Locus
18q21
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619656
Semantic type UMLS property
Has inheritance type
cui
C5562041
OMIM Entry Type
3
OMIM MimType Value
pound
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