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Preferred Name

TARP SYNDROME
Synonyms

TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA
ID

http://purl.bioontology.org/ontology/OMIM/311900
altLabel

TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA

PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT

TARPS
cui

C1839463
Gene Locus

Xp11.23
Gene Symbol

DXS8237E

KIAA0122

TARPS

RBM10
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU045838

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU003459

http://purl.bioontology.org/ontology/OMIM/MTHU045844

http://purl.bioontology.org/ontology/OMIM/MTHU045842

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU045840

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU015115

http://purl.bioontology.org/ontology/OMIM/MTHU068191

http://purl.bioontology.org/ontology/OMIM/MTHU068189

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU002571

http://purl.bioontology.org/ontology/OMIM/MTHU005340

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU000619

http://purl.bioontology.org/ontology/OMIM/MTHU003214

http://purl.bioontology.org/ontology/OMIM/MTHU008238

http://purl.bioontology.org/ontology/OMIM/MTHU044717

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU010426

http://purl.bioontology.org/ontology/OMIM/MTHU045845

http://purl.bioontology.org/ontology/OMIM/MTHU006809

http://purl.bioontology.org/ontology/OMIM/MTHU045839

http://purl.bioontology.org/ontology/OMIM/MTHU045843

http://purl.bioontology.org/ontology/OMIM/MTHU045847

http://purl.bioontology.org/ontology/OMIM/MTHU005530

http://purl.bioontology.org/ontology/OMIM/MTHU004212

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU019161

http://purl.bioontology.org/ontology/OMIM/MTHU068192

http://purl.bioontology.org/ontology/OMIM/MTHU002505

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU068190
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

300442
notation

311900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

TARP SYNDROME
Scope Statement

Caused by mutation in the RNA-binding motif protein 10 gene (RBM10, 300080.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2886 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010711 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010711 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_0111780 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C536942 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C536942 Medical Subject Headings / 医学主题词表 LOOM