SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

SPONDYLOMETAPHYSEAL DYSPLASIA

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

SPONDYLOMETAPHYSEAL DYSPLASIA

SEMDSTWK

SMED, STRUDWICK TYPE

SMED, TYPE I

SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

SEMDC

SMD

STRUDWICK SYNDROME

SEMD, STRUDWICK TYPE

DAPPLED METAPHYSIS SYNDROME

C4759767

C0700635

12q13.11-q13.2

COL2A1

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/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

Phenotype description, molecular basis known.

184250

3

pound

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0017) [MOLECULAR BASIS]

T047