Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Kozlowski Warren Fisher Syndrome 
Larsen-Like Syndrome, Lethal Type 
Short Limb Dwarf Lethal Colavita Kozlowski Type 
Skeletal Dysplasia, San Diego Type 
Thanatophoric Dysplasia Glasgow Variant 
Thanatophoric Dysplasia, Type I  
Thanatophoric Dysplasia, Type II  
Torrance type platyspondylic dysplasia  
An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)

Synonyms
Exact Synonyms: PLSD-T ;   PLSD-TL ;   PLSDT ;   Platyspondylic Chondrodysplasia, Torrance-Luton Type ;   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type ;   Platyspondylic Skeletal Dysplasia, Torrance Type ;   lethal short-limbed platyspondylic dwarfism, Torrance type ;   lethal skeletal dysplasia ;   platyspondylic dysplasia, Torrance-Luton type ;   thanatophoric dysplasia, Torrance variant
Related Synonyms: PLSDL ;   Platyspondylic Lethal Skeletal Dysplasia, Luton Type ;   thanatophoric dysplasia, Luton variant
Primary IDs: MESH:C563627
Alternate IDs: OMIM:151210
Xrefs: GARD:4382 ;   ORDO:85166
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14729840 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/448481 "DO" "DO"

paths to the root