SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
SPONDYLOMETAPHYSEAL DYSPLASIA
http://purl.bioontology.org/ontology/OMIM/184250
SEMDSTWK
SMED, STRUDWICK TYPE
SMED, TYPE I
SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE
SEMDC
SMD
STRUDWICK SYNDROME
SEMD, STRUDWICK TYPE
DAPPLED METAPHYSIS SYNDROME
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/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
Phenotype description, molecular basis known.
184250
3
pound
T047