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loading...| Preferred Name | Schwartz-Jampel syndrome | |
| Synonyms |
SJS1 |
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| 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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| ID |
http://identifiers.org/omim/255800 |
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| altLabel |
SJS1 |
|
| 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. |
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| id |
OMIM:255800 |
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| notation |
OMIM:255800 |
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| prefLabel |
Schwartz-Jampel syndrome |
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| subClassOf |
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