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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
lethal congenital contracture syndrome 3 (DOID:0060653)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Allan-Herndon-Dudley syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
Arnold Stickler Bourne Syndrome 
Axial Mesodermal Dysplasia Spectrum 
Bethlem myopathy +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Bowen Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
congenital contractural arachnodactyly  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Contractures, Torticollis, and Malignant Hyperthermia 
Congenital Ectodermal Dysplasia with Hearing Loss 
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes +   
Davenport Donlan Syndrome 
Dupuytren Contracture +  
Dystonia with Ringbinden 
Erosive Arthropathy 
Facial Dysmorphism with Multiple Malformations +   
Furukawa Takagi Nakao Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 18  
Hip Contracture  
histiocytosis-lymphadenopathy plus syndrome  
Iida Kannari Syndrome 
lethal congenital contracture syndrome 1  
Lethal Congenital Contracture Syndrome 10  
Lethal Congenital Contracture Syndrome 11  
lethal congenital contracture syndrome 2  
lethal congenital contracture syndrome 3  
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)
lethal congenital contracture syndrome 4  
Lethal Congenital Contracture Syndrome 5  
Lethal Congenital Contracture Syndrome 6  
Lethal Congenital Contracture Syndrome 7  
Lethal Congenital Contracture Syndrome 8  
Lethal Congenital Contracture Syndrome 9  
lethal restrictive dermopathy  
Macleod Fraser syndrome 
Malignant Neurogenic Muscular Atrophy 
Marden-Walker Syndrome  
Mental Retardation Mietens Weber Type 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Miles-Carpenter syndrome +   
Miyoshi muscular dystrophy +   
Multiple Pterygium Syndrome, X-Linked 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Nathalie Syndrome 
plantar fascial fibromatosis 
Primrose Syndrome  
proximal myopathy and ophthalmoplegia  
Rozin Hertz Goodman Syndrome 
Sarcopenia  
Spondylospinal Thoracic Dysostosis 
stiff skin syndrome  
Thakker Donnai Syndrome 
Van den Ende-Gupta syndrome  
Volkmann contracture 
Warburg-Cinotti Syndrome  
Winchester syndrome  
Winter Harding Hyde Syndrome 
X-linked Emery-Dreifuss muscular dystrophy 1  

Synonyms
Exact Synonyms: LCCS3 ;   multiple contractural syndrome, Israeli Bedouin type B ;   multiple contracture syndrome, Israeli Bedouin type B
Primary IDs: MESH:C566961
Alternate IDs: OMIM:611369 ;   RDO:0015162
Xrefs: ORDO:137783
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17701898 "DO"

paths to the root