Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
spondyloepimetaphyseal dysplasia with joint laxity (DOID:0112197)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7) Pig: (7)
Parent Terms Term With Siblings Child Terms
Achard syndrome 
Anauxetic Dysplasia +   
Ankle Fractures 
arterial tortuosity syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Brittle Cornea Syndrome +   
Chitty Hall Webb Syndrome 
chondrodysplasia with joint dislocations gPAPP type  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Cutaneous Hemangiomatosis with Associated Features 
Daish Hardman Lamont Syndrome 
De Hauwere syndrome 
Desbuquois dysplasia +   
Diastasis, Bone +  
Diastasis, Muscle 
Dyggve-Melchior-Clausen disease +   
Familial Joint Laxity +   
Familial Recurrent Dislocation of Patella 
Femoral Fractures +   
Fracture Dislocation +  
Fractures, Avulsion 
Fractures, Closed  
Fractures, Comminuted 
Fractures, Compression 
Fractures, Malunited 
Fractures, Multiple  
Fractures, Open 
Fractures, Spontaneous 
Fractures, Stress  
Fractures, Ununited +   
Hip Dislocation  
Humeral Fractures 
Hypospadias-Mental Retardation Syndrome 
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Intra-Articular Fractures 
Jaffer Beighton Syndrome 
Knee Dislocation  
Larsen syndrome  
Larsen-Like Syndromes +   
Liberfarb Syndrome  
Megarbane Syndrome 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
metatropic dysplasia  
MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES  
Osteoporotic Fractures  
Osteosclerosis with Ichthyosis and Fractures 
Panic Disorder with Joint Laxity 
Patellar Dislocation +  
Periprosthetic Fractures 
Radius Fractures +  
Recurrent Dislocation of Head of Fibula 
Rib Fractures  
Schimke immuno-osseous dysplasia  
Shoulder Dislocation 
Shoulder Fractures +  
Skull Fractures +   
Spinal Fractures  
Spinal Muscular Atrophy with Congenital Bone Fractures +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
spondyloepimetaphyseal dysplasia with joint laxity +   
A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. (DO)
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type  
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type  
Spondyloepimetaphyseal Dysplasia, Krakow Type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondylometaepiphyseal dysplasia, short limb-hand type  
Tibial Fractures +   
Ulna Fractures +  
Van Maldergem syndrome +   
X-linked spondyloepimetaphyseal dysplasia  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: PRIMARY BONE DYSPLASIA WITH MULTIPLE JOINT DISLOCATIONS ;   SEMDJL
Primary IDs: MESH:C562968
Xrefs: GARD:4982 ;   OMIM:PS271640 ;   ORDO:93359
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/30358852/ "DO"

paths to the root