Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/156232
http://purl.bioontology.org/ontology/OMIM/156232
Preferred Name

MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
Synonyms
MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS
MDK
MESOMELIC DYSPLASIA, THAI TYPE
MMDK
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS
MDK
MESOMELIC DYSPLASIA, THAI TYPE
MMDK
prefLabel
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
Gene Symbol
MMDK
MDK
Scope Statement
Patients walk on tips of toes with dorsal foot deviated laterally [MISCELLANEOUS]
Caused by disruption of the HOXD cluster on 2q31.1. [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU078150
http://purl.bioontology.org/ontology/OMIM/MTHU024083
http://purl.bioontology.org/ontology/OMIM/MTHU024075
http://purl.bioontology.org/ontology/OMIM/MTHU024077
http://purl.bioontology.org/ontology/OMIM/MTHU024078
http://purl.bioontology.org/ontology/OMIM/MTHU005550
http://purl.bioontology.org/ontology/OMIM/MTHU024081
http://purl.bioontology.org/ontology/OMIM/MTHU024087
http://purl.bioontology.org/ontology/OMIM/MTHU010264
http://purl.bioontology.org/ontology/OMIM/MTHU024080
http://purl.bioontology.org/ontology/OMIM/MTHU024076
http://purl.bioontology.org/ontology/OMIM/MTHU024079
http://purl.bioontology.org/ontology/OMIM/MTHU024086
http://purl.bioontology.org/ontology/OMIM/MTHU078149
http://purl.bioontology.org/ontology/OMIM/MTHU024085
http://purl.bioontology.org/ontology/OMIM/MTHU024084
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tui
T047
Gene Locus
2q24-q32
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
156232
Semantic type UMLS property
Has inheritance type
cui
C1835009
OMIM Entry Type
3
OMIM MimType Value
pound
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