Online Mendelian Inheritance in Man - CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619657 http://purl.bioontology.org/ontology/OMIM/619657
Preferred Name	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
Synonyms	CHTD8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CHTD8
prefLabel	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
Gene Symbol	SMAD2 MADH2 CHTD8 LDS6 JV18
Scope Statement	Caused by mutation in the SMAD family member-2 gene (SMAD2, 601366.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU063135 http://purl.bioontology.org/ontology/OMIM/MTHU004506 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU065495 http://purl.bioontology.org/ontology/OMIM/MTHU035884 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU036018 http://purl.bioontology.org/ontology/OMIM/MTHU005728 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU003865 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU074499 http://purl.bioontology.org/ontology/OMIM/MTHU074503 http://purl.bioontology.org/ontology/OMIM/MTHU074501 http://purl.bioontology.org/ontology/OMIM/MTHU074498 http://purl.bioontology.org/ontology/OMIM/MTHU049435 http://purl.bioontology.org/ontology/OMIM/MTHU037624 http://purl.bioontology.org/ontology/OMIM/MTHU074500 http://purl.bioontology.org/ontology/OMIM/MTHU074502 http://purl.bioontology.org/ontology/OMIM/MTHU013906 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU011729 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU005778 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	18q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619657
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5562042
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display