loading...| Preferred Name | Weill-Marchesani Syndrome [Disease/Finding] | |
| Synonyms |
Spherophakia-Brachymorphia Syndrome Mesodermal Dysmorphodystrophy, Congenital Marchesani Syndrome Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome Congenital Mesodermal Dysmorphodystrophy Weill Marchesani Syndrome Weill-Marchesani Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181084 |
|
| altLabel |
Spherophakia-Brachymorphia Syndrome Mesodermal Dysmorphodystrophy, Congenital Marchesani Syndrome Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome Congenital Mesodermal Dysmorphodystrophy Weill Marchesani Syndrome Weill-Marchesani Syndrome |
|
| cui |
C0265313 |
|
| MESH DEFINITION |
Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. |
|
| MESH DUI |
D056846 |
|
| MeSH name |
Weill-Marchesani Syndrome |
|
| MESH UI |
M0529438 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181084 |
|
| NUI |
N0000181084 |
|
| prefLabel |
Weill-Marchesani Syndrome [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |