HOLT-ORAM SYNDROME

HEART-HAND SYNDROME

http://purl.bioontology.org/ontology/OMIM/142900

HEART-HAND SYNDROME

HOS1

ATRIODIGITAL DYSPLASIA

HOS

C0265264

12q24.1

TBX5

http://purl.bioontology.org/ontology/OMIM/MTHU005517

http://purl.bioontology.org/ontology/OMIM/MTHU017837

http://purl.bioontology.org/ontology/OMIM/MTHU017841

http://purl.bioontology.org/ontology/OMIM/MTHU017535

http://purl.bioontology.org/ontology/OMIM/MTHU000291

http://purl.bioontology.org/ontology/OMIM/MTHU017835

http://purl.bioontology.org/ontology/OMIM/MTHU017839

http://purl.bioontology.org/ontology/OMIM/MTHU008315

http://purl.bioontology.org/ontology/OMIM/MTHU017836

http://purl.bioontology.org/ontology/OMIM/MTHU017838

http://purl.bioontology.org/ontology/OMIM/MTHU017840

http://purl.bioontology.org/ontology/OMIM/MTHU017842

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU015116

Phenotype description, molecular basis known.

142900

3

pound

HOLT-ORAM SYNDROME

Caused by mutations in the T-Box 5 gene (TBX5, 601620.0001) [MOLECULAR BASIS]

T047