loading...| Preferred Name | Schwartz-Jampel syndrome | |
| Synonyms |
Schwartz Jampel Aberfeld syndrome myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities Schwartz Jampel syndrome myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities myotonic chondrodystrophy osteochondromuscular dystrophy dysostosis enchondralis metaepiphysaria, Catel-Hempel type burton skeletal dysplasia Schwartz Jampel Syndrome burton syndrome Schwartz-Jampel syndrome Schwartz-Jampel-Aberfeld syndrome myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Catel-Hempel type dysostosis enchondralis metaepiphysaria Osteochondromuscular dystrophy Aberfeld syndrome Catel-Hempel syndrome SJS |
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| Definitions |
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009717 |
|
| database_cross_reference |
NANDO:2100235 ICD9:759.89 SCTID:29145002 NCIT:C35008 NANDO:1200224 MEDGEN:19892 NANDO:2200876 icd11.foundation:1725668060 Orphanet:800 UMLS:C0036391 GARD:250 NORD:1697 |
|
| definition |
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). |
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| has_exact_synonym |
myotonic chondrodystrophy osteochondromuscular dystrophy dysostosis enchondralis metaepiphysaria, Catel-Hempel type burton skeletal dysplasia Schwartz Jampel Syndrome burton syndrome Schwartz-Jampel syndrome Schwartz-Jampel-Aberfeld syndrome myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Catel-Hempel type dysostosis enchondralis metaepiphysaria Osteochondromuscular dystrophy Aberfeld syndrome Catel-Hempel syndrome SJS |
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| has_related_synonym |
Schwartz Jampel Aberfeld syndrome myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities Schwartz Jampel syndrome myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities |
|
| id |
MONDO:0009717 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern |
|
| label |
Schwartz-Jampel syndrome |
|
| notation |
MONDO:0009717 |
|
| preferred label |
Schwartz-Jampel syndrome |
|
| prefLabel |
Schwartz-Jampel syndrome |
|
| skos_exactMatch |
http://identifiers.org/medgen/19892 http://purl.obolibrary.org/obo/Orphanet_800 http://identifiers.org/snomedct/29145002 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1725668060 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016151 http://purl.obolibrary.org/obo/MONDO_0016761 |
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| excluded_subClassOf |