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Preferred Name

METATROPIC DYSPLASIA
Synonyms

MTD
ID

http://purl.bioontology.org/ontology/OMIM/156530
altLabel

MTD

METATROPIC DWARFISM
cui

C0265281
Gene Locus

12q24.1
Gene Symbol

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU031145

http://purl.bioontology.org/ontology/OMIM/MTHU001038

http://purl.bioontology.org/ontology/OMIM/MTHU031139

http://purl.bioontology.org/ontology/OMIM/MTHU031131

http://purl.bioontology.org/ontology/OMIM/MTHU031137

http://purl.bioontology.org/ontology/OMIM/MTHU031135

http://purl.bioontology.org/ontology/OMIM/MTHU031133

http://purl.bioontology.org/ontology/OMIM/MTHU002784

http://purl.bioontology.org/ontology/OMIM/MTHU011178

http://purl.bioontology.org/ontology/OMIM/MTHU031143

http://purl.bioontology.org/ontology/OMIM/MTHU031141

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU042555

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU031128

http://purl.bioontology.org/ontology/OMIM/MTHU038242

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU031132

http://purl.bioontology.org/ontology/OMIM/MTHU031138

http://purl.bioontology.org/ontology/OMIM/MTHU025052

http://purl.bioontology.org/ontology/OMIM/MTHU031130

http://purl.bioontology.org/ontology/OMIM/MTHU031136

http://purl.bioontology.org/ontology/OMIM/MTHU031142

http://purl.bioontology.org/ontology/OMIM/MTHU031146

http://purl.bioontology.org/ontology/OMIM/MTHU031140

http://purl.bioontology.org/ontology/OMIM/MTHU031134

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU013286

http://purl.bioontology.org/ontology/OMIM/MTHU031144

http://purl.bioontology.org/ontology/OMIM/MTHU031129

http://purl.bioontology.org/ontology/OMIM/MTHU006125

http://purl.bioontology.org/ontology/OMIM/MTHU031127
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

250600
notation

156530
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

METATROPIC DYSPLASIA
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]
tui

T019
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111514 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537356 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C175209 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0007986 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007986 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_2635 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM