Online Mendelian Inheritance in Man - TARP SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/311900 http://purl.bioontology.org/ontology/OMIM/311900
Preferred Name	TARP SYNDROME
Synonyms	TARPS PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TARPS PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA
prefLabel	TARP SYNDROME
Gene Symbol	KIAA0122 RBM10 TARPS DXS8237E
Scope Statement	Caused by mutation in the RNA-binding motif protein 10 gene (RBM10, 300080.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU015115 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU045839 http://purl.bioontology.org/ontology/OMIM/MTHU003459 http://purl.bioontology.org/ontology/OMIM/MTHU068191 http://purl.bioontology.org/ontology/OMIM/MTHU068192 http://purl.bioontology.org/ontology/OMIM/MTHU045844 http://purl.bioontology.org/ontology/OMIM/MTHU000506 http://purl.bioontology.org/ontology/OMIM/MTHU004212 http://purl.bioontology.org/ontology/OMIM/MTHU068189 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU006809 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU045843 http://purl.bioontology.org/ontology/OMIM/MTHU068190 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000619 http://purl.bioontology.org/ontology/OMIM/MTHU045840 http://purl.bioontology.org/ontology/OMIM/MTHU005530 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU045838 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU044717 http://purl.bioontology.org/ontology/OMIM/MTHU005340 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU045845 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU008238 http://purl.bioontology.org/ontology/OMIM/MTHU003214 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU045847 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU019161 http://purl.bioontology.org/ontology/OMIM/MTHU045842 http://purl.bioontology.org/ontology/OMIM/MTHU010426 http://purl.bioontology.org/ontology/OMIM/MTHU002505 See more See less
tui	T047
Gene Locus	Xp11.23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	311900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1839463
Moved from	300442
OMIM Entry Type	3
OMIM MimType Value	pound

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