Name
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Synonmys
DAPPLED METAPHYSIS SYNDROME ,
SEMD, STRUDWICK TYPE ,
SEMDC ,
SMED, STRUDWICK TYPE ,
SMED, TYPE I ,
SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE ,
SPONDYLOMETAPHYSEAL DYSPLASIA; SMD ,
STRUDWICK SYNDROME
Classification
bone,
developmental,
genetic
Associated Genes
COL2A1
(Withdrawn symbols:
AOM,
SEDC,
STL1
)
Mouse Orthologs
Col2a1
(Withdrawn symbols:
Col2a,
Col2a-1,
Dmm,
Lpk,
Rgsc413,
Rgsc856
)
Source
OMIM:184250 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)