HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE

IVEMARK SYNDROME

ASPLENIA WITH CARDIOVASCULAR ANOMALIES

RAI

RIGHT ISOMERISM

POLYSPLENIA SYNDROME

POLYASPLENIA

VAH, AUTOSOMAL RECESSIVE

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

HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE

IVEMARK SYNDROME

ASPLENIA WITH CARDIOVASCULAR ANOMALIES

RAI

RIGHT ISOMERISM

POLYSPLENIA SYNDROME

POLYASPLENIA

VAH, AUTOSOMAL RECESSIVE

C0265357

C0175707

C1876173

C3178806

C1876171

19p12

DORV

GDF1

DTGA3

RAI

CHTD6

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

Phenotype description, molecular basis known.

208530

3

pound

RIGHT ATRIAL ISOMERISM

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]

T047

T019