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Ontology Browser

Term:
Multiple Exostoses Type I (DOID:9003050)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
chondrodysplasia Blomstrand type  
Dermochondrocorneal Dystrophy of Fran├žois 
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 
Exostoses of Heel 
Intestinal Polyposis, with Multiple Exostoses 
Kniest Like Dysplasia Lethal  
Metachondromatosis  
Metaphyseal Acroscyphodysplasia 
Multiple Exostoses Type I  
Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type I (EXT1) is caused by heterozygous mutation in the gene encoding exostosin-1 (EXT1) on chromosome 8q24. (OMIM)
Multiple Exostoses Type II  
Multiple Exostoses Type III 
Multiple Exostoses with Spastic Tetraparesis 
Potocki-Shaffer Syndrome 
Stuve-Wiedemann Syndrome  

Synonyms
Exact Synonyms: EXT ;   EXT1 ;   hereditary multiple exostoses 1
Primary IDs: OMIM:133700
Alternate IDs: RDO:0007979

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.