loading...| Preferred Name | Weill-Marchesani syndrome | |
| Synonyms |
WMS mesodermal dysmorphodystrophy congenital WM syndrome spherophakia-brachymorphia syndrome congenital mesodermal dystrophy Marchesani-Weill syndrome spherophakia brachymorphia syndrome mesodermal Dysmorphodystrophy, congenital |
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| Definitions |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018096 |
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| altLabel |
WMS mesodermal dysmorphodystrophy congenital WM syndrome spherophakia-brachymorphia syndrome congenital mesodermal dystrophy Marchesani-Weill syndrome spherophakia brachymorphia syndrome mesodermal Dysmorphodystrophy, congenital |
|
| definition |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
|
| has_exact_synonym |
spherophakia-brachymorphia syndrome congenital mesodermal dystrophy Marchesani-Weill syndrome spherophakia brachymorphia syndrome mesodermal Dysmorphodystrophy, congenital |
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| has_related_synonym |
WMS mesodermal dysmorphodystrophy congenital WM syndrome |
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| label |
Weill-Marchesani syndrome |
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| prefixIRI |
MONDO:0018096 |
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| prefLabel |
Weill-Marchesani syndrome |
|
| textual definition |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0015161 |