Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/142900 http://purl.bioontology.org/ontology/OMIM/142900
Preferred Name	HOLT-ORAM SYNDROME
Synonyms	HOS HOS1 HEART-HAND SYNDROME ATRIODIGITAL DYSPLASIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HOS HOS1 HEART-HAND SYNDROME ATRIODIGITAL DYSPLASIA
prefLabel	HOLT-ORAM SYNDROME
Gene Symbol	TBX5
Scope Statement	Caused by mutations in the T-Box 5 gene (TBX5, 601620.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU017835 http://purl.bioontology.org/ontology/OMIM/MTHU005517 http://purl.bioontology.org/ontology/OMIM/MTHU017838 http://purl.bioontology.org/ontology/OMIM/MTHU017842 http://purl.bioontology.org/ontology/OMIM/MTHU017535 http://purl.bioontology.org/ontology/OMIM/MTHU017841 http://purl.bioontology.org/ontology/OMIM/MTHU015116 http://purl.bioontology.org/ontology/OMIM/MTHU008315 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU017836 http://purl.bioontology.org/ontology/OMIM/MTHU017840 http://purl.bioontology.org/ontology/OMIM/MTHU000291 http://purl.bioontology.org/ontology/OMIM/MTHU017839 http://purl.bioontology.org/ontology/OMIM/MTHU017837 See more See less
tui	T047
Gene Locus	12q24.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	142900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0265264
OMIM Entry Type	3
OMIM MimType Value	pound

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