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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/156530
http://purl.bioontology.org/ontology/OMIM/156530
Preferred Name

METATROPIC DYSPLASIA
Synonyms
METATROPIC DWARFISM
MTD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
METATROPIC DWARFISM
MTD
prefLabel
METATROPIC DYSPLASIA
Gene Symbol
SSQTL1
SPSMA
HMSN2C
CMT2C
SMAL
TRPV4
BCYM3
VROAC
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notation
156530
Scope Statement
Intrafamilial variability [MISCELLANEOUS]
Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0006) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
250600
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU031136
http://purl.bioontology.org/ontology/OMIM/MTHU031140
http://purl.bioontology.org/ontology/OMIM/MTHU001038
http://purl.bioontology.org/ontology/OMIM/MTHU031128
http://purl.bioontology.org/ontology/OMIM/MTHU025052
http://purl.bioontology.org/ontology/OMIM/MTHU031137
http://purl.bioontology.org/ontology/OMIM/MTHU031130
http://purl.bioontology.org/ontology/OMIM/MTHU031139
http://purl.bioontology.org/ontology/OMIM/MTHU031134
http://purl.bioontology.org/ontology/OMIM/MTHU042555
http://purl.bioontology.org/ontology/OMIM/MTHU000317
http://purl.bioontology.org/ontology/OMIM/MTHU031129
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU031141
http://purl.bioontology.org/ontology/OMIM/MTHU002784
http://purl.bioontology.org/ontology/OMIM/MTHU031142
http://purl.bioontology.org/ontology/OMIM/MTHU031127
http://purl.bioontology.org/ontology/OMIM/MTHU013286
http://purl.bioontology.org/ontology/OMIM/MTHU031145
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU031135
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU031138
http://purl.bioontology.org/ontology/OMIM/MTHU011178
http://purl.bioontology.org/ontology/OMIM/MTHU031131
http://purl.bioontology.org/ontology/OMIM/MTHU031144
http://purl.bioontology.org/ontology/OMIM/MTHU006125
http://purl.bioontology.org/ontology/OMIM/MTHU031146
http://purl.bioontology.org/ontology/OMIM/MTHU031143
http://purl.bioontology.org/ontology/OMIM/MTHU031133
http://purl.bioontology.org/ontology/OMIM/MTHU031132
http://purl.bioontology.org/ontology/OMIM/MTHU000585
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
12q24.1
tui
T019
cui
C0265281
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Lunulae     Lunulae false Marcel+Milan+Ramirez+Rojas Comment 2024-07-13