Disease: Spondyloepimetaphyseal Dysplasia, Strudwick Type

Name Spondyloepimetaphyseal Dysplasia, Strudwick Type

Synonyms 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

Phenotypes Anterior rib cupping; Autosomal dominant inheritance; Brachydactyly; C1-C2 subluxation; Cleft palate; Club-shaped proximal femur; Coxa vara; Delayed pubic bone ossification; Genu valgum; Hyperlordosis; Hypoplasia of the odontoid process; Hypoplastic pubic bone; Inguinal hernia; Metaphyseal dappling; Metaphyseal irregularity; Myopia; Narrow greater sciatic notch; Pectus carinatum; Pes planus; Platyspondyly; Protuberant abdomen; Scoliosis; Severe short stature; Spondyloepimetaphyseal dysplasia

Associated Genes COL2A1 (Withdrawn symbols: AOM, SEDC, STL1 )

Mouse Orthologs Col2a1 (Withdrawn symbols: Col2a, Col2a-1, Dmm, Lpk, Rgsc413, Rgsc856 )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)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter