Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619122
http://purl.bioontology.org/ontology/OMIM/619122
Preferred Name

VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
Synonyms
VHO
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
VHO
prefLabel
VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
Gene Symbol
BMP11
VHO
GDF11
Scope Statement
Based on report of 6 patients over 3 generations of 1 family (last curated December 2020) [MISCELLANEOUS]
Caused by mutation in the growth/differentiation factor-11 gene (GDF11, 603936.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU073931
http://purl.bioontology.org/ontology/OMIM/MTHU073935
http://purl.bioontology.org/ontology/OMIM/MTHU049993
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU073932
http://purl.bioontology.org/ontology/OMIM/MTHU024335
http://purl.bioontology.org/ontology/OMIM/MTHU015004
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU073934
http://purl.bioontology.org/ontology/OMIM/MTHU073933
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU073937
http://purl.bioontology.org/ontology/OMIM/MTHU006858
http://purl.bioontology.org/ontology/OMIM/MTHU002676
http://purl.bioontology.org/ontology/OMIM/MTHU030744
http://purl.bioontology.org/ontology/OMIM/MTHU073936
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tui
T047
Gene Locus
12q13.13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619122
Semantic type UMLS property
Has inheritance type
cui
C5436851
OMIM Entry Type
3
OMIM MimType Value
pound
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