Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

METATROPIC DYSPLASIA
Synonyms

METATROPIC DWARFISM
ID

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

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/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/MTHU031147

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

http://purl.bioontology.org/ontology/OMIM/MTHU058260

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU031126

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU031124

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

http://purl.bioontology.org/ontology/OMIM/MTHU031148

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/MTHU031123

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
tui

T019
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111514 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537356 Medical Subject Headings CUI