Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

Synonyms

SPONDYLOMETAPHYSEAL DYSPLASIA

ID

http://purl.bioontology.org/ontology/OMIM/184250

altLabel

SPONDYLOMETAPHYSEAL DYSPLASIA

SEMDSTWK

SMED, STRUDWICK TYPE

SMED, TYPE I

SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

SEMDC

SMD

STRUDWICK SYNDROME

SEMD, STRUDWICK TYPE

DAPPLED METAPHYSIS SYNDROME

cui

C0700635

Gene Locus

12q13.11-q13.2

Gene Symbol

COL2A1

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU009452

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

http://purl.bioontology.org/ontology/OMIM/MTHU015535

http://purl.bioontology.org/ontology/OMIM/MTHU015530

http://purl.bioontology.org/ontology/OMIM/MTHU008698

http://purl.bioontology.org/ontology/OMIM/MTHU000593

http://purl.bioontology.org/ontology/OMIM/MTHU015534

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU027470

http://purl.bioontology.org/ontology/OMIM/MTHU015532

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU015537

http://purl.bioontology.org/ontology/OMIM/MTHU037067

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU003440

http://purl.bioontology.org/ontology/OMIM/MTHU001359

http://purl.bioontology.org/ontology/OMIM/MTHU003604

http://purl.bioontology.org/ontology/OMIM/MTHU015533

http://purl.bioontology.org/ontology/OMIM/MTHU015536

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU015531

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

184250

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080028 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537501 Medical Subject Headings CUI