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Ontology Browser

Term:
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (DOID:9002016)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
anauxetic dysplasia +   
Dyggve-Melchior-Clausen disease +   
Liberfarb Syndrome  
metatropic dysplasia  
Schimke immuno-osseous dysplasia  
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
spondyloepimetaphyseal dysplasia with joint laxity +   
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type  
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE  
A disease characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles.
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  
spondylometaepiphyseal dysplasia, short limb-hand type  
X-linked spondyloepimetaphyseal dysplasia  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: SEMDDR ;   spondyloepimetaphyseal dysplasia of the Di Rocco type
Primary IDs: OMIM:617974
Definition Sources: OMIM:617974

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