loading...| Preferred Name | Weill-Marchesani Syndrome | |
| Synonyms |
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|
| Definitions |
An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036593 |
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| Database_Cross_Reference |
SNM:D-X432 SNMI:D4-00D13 MTH:NOCODE CHV:0000025887 NCI:C85226 SNOMEDCT_US:2884008 SNOMEDCT_US:205801004 NDFRT:N0000181084 DO:DOID:0050475 MDR:10064963 MSH:D056846 RCD:PKy56 SNM:D-5296 MEDCIN:38657 |
|
| Definition |
An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
|
| label |
Weill-Marchesani Syndrome |
|
| MCID |
MC00090146 |
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| PMOID |
PMO:00036593 |
|
| prefixIRI |
pmo:PMO_00036593 |
|
| prefLabel |
Weill-Marchesani Syndrome |
|
| Synonym |
Weill-Marchesani syndrome Spherophakia-brachymorphia syndrome Mesodermal Dysmorphodystrophy, Congenital Weill Marchesani Syndrome congenital mesodermal dystrophy Brachymorphy with spherophakia syndrome Syndromes, Spherophakia Brachymorphia Syndrome, Spherophakia Brachymorphia Congenital Mesodermal Dysmorphodystrophy Marchesani syndrome Marchesani syndrome (disorder) Spherophakia-Brachymorphia Syndrome marchesani syndrome Dysmorphodystrophies, Congenital Mesodermal Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndromes WMS - Weill-Marchesani syndrome Mesodermal Dysmorphodystrophies, Congenital weill-marchesani syndrome Weill-Marchesani syndrome (disorder) Brachydactyly-spherophakia syndrome GEMSS syndrome Marchesani Weill Syndrome Spherophakia-brachymorphia syn Marchesani's syndrome Weill-Marchesani Syndrome [Disease/Finding] Dysmorphodystrophy, Congenital Mesodermal Marchesani-Weill Syndromes Spherophakia Brachymorphia Syndrome Weill-Marchesani syndrome (diagnosis) Congenital Mesodermal Dysmorphodystrophies WMS - Weill-Marchesani syndr Marchesani Syndrome |
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| Tree Number |
T9.3.9.22.5.5 T9.9.4.5 T9.2.23.14 T9.8.4.54.14 T9.14.2.24 T9.8.3.1.21 T9.8.4.30.5 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00014139 http://www.phoc.org.cn/pmo/class/PMO_00036589 http://www.phoc.org.cn/pmo/class/PMO_00036594 |