Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

RIGHT ATRIAL ISOMERISM

Synonyms

HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE

ID

http://purl.bioontology.org/ontology/OMIM/208530

altLabel

HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE

IVEMARK SYNDROME

ASPLENIA WITH CARDIOVASCULAR ANOMALIES

RAI

RIGHT ISOMERISM

POLYSPLENIA SYNDROME

POLYASPLENIA

VAH, AUTOSOMAL RECESSIVE

cui

C0265357

C0175707

C1876173

C3178806

C1876171

Gene Locus

19p12

Gene Symbol

DORV

GDF1

DTGA3

RAI

CHTD6

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004506

http://purl.bioontology.org/ontology/OMIM/MTHU076556

http://purl.bioontology.org/ontology/OMIM/MTHU043055

http://purl.bioontology.org/ontology/OMIM/MTHU041719

http://purl.bioontology.org/ontology/OMIM/MTHU041726

http://purl.bioontology.org/ontology/OMIM/MTHU041718

http://purl.bioontology.org/ontology/OMIM/MTHU001474

http://purl.bioontology.org/ontology/OMIM/MTHU041721

http://purl.bioontology.org/ontology/OMIM/MTHU041725

http://purl.bioontology.org/ontology/OMIM/MTHU037624

http://purl.bioontology.org/ontology/OMIM/MTHU076557

http://purl.bioontology.org/ontology/OMIM/MTHU013906

http://purl.bioontology.org/ontology/OMIM/MTHU041727

http://purl.bioontology.org/ontology/OMIM/MTHU041724

http://purl.bioontology.org/ontology/OMIM/MTHU011729

http://purl.bioontology.org/ontology/OMIM/MTHU076558

http://purl.bioontology.org/ontology/OMIM/MTHU041722

http://purl.bioontology.org/ontology/OMIM/MTHU004094

http://purl.bioontology.org/ontology/OMIM/MTHU040268

http://purl.bioontology.org/ontology/OMIM/MTHU041720

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

208530

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

RIGHT ATRIAL ISOMERISM

Scope Statement

Poor outcome [MISCELLANEOUS]

One family with confirmed genetic basis has been reported (last curated April 2018) [MISCELLANEOUS]

Caused by mutation in the growth/differentiation factor 1 gene (GDF1, 602880.0001) [MOLECULAR BASIS]

Cardiac failure at birth [MISCELLANEOUS]

tui

T047

T019

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10059125 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D059446 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566864 MESH CUI
http://purl.bioontology.org/ontology/MESH/D059446 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566862 MESH CUI
http://purl.bioontology.org/ontology/MESH/D059446 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10059124 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10059125 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10059124 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/72425000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10059125 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D059446 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/72425000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10059124 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-01511 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10068334 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10068335 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01512 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10068335 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10068334 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X77v1 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/253336000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10068334 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D059446 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/0427-9136 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253336000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/0724-8315 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10068335 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10080599 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10080599 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10080599 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D059446 MSHFRE CUI
http://purl.obolibrary.org/obo/MONDO_0008832 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0060856 DOID LOOM
http://purl.obolibrary.org/obo/MP_0006061 MP LOOM
http://purl.obolibrary.org/obo/MONDO_0008832 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0011536 HP LOOM
http://www.phoc.org.cn/pmo/class/PMO_00004676 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_0060856 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060856 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060856 FNS-H LOOM
http://purl.obolibrary.org/obo/MP_0006061 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0006061 CHIRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080599 MEDDRA LOOM
http://identifiers.org/omim/208530 REXO LOOM
http://identifiers.org/omim/208530 GEXO LOOM
http://identifiers.org/omim/208530 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0008832 DOVES LOOM
http://purl.obolibrary.org/obo/HP_0011536 UPHENO LOOM