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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/255800
http://identifiers.org/omim/255800
|
|---|---|
| Preferred Name | Schwartz-Jampel syndrome |
| Definitions |
(SJS1) - Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses.
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| Synonyms |
SJS1
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (SJS1) - Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. |
|---|---|
| altLabel |
SJS1
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| prefLabel |
Schwartz-Jampel syndrome
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| notation |
OMIM:255800
|
| id |
OMIM:255800
|
| subClassOf | |
| type |
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