loading...| Preferred Name | Weill-Marchesani syndrome | |
| Synonyms |
Mesodermal Dysmorphodystrophy, Congenital Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy GEMSS syndrome |
|
| Definitions |
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. Xref MGI. OMIM mapping confirmed by DO. [LS]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050475 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [LS]. |
|
| alternative label |
Mesodermal Dysmorphodystrophy, Congenital Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy GEMSS syndrome |
|
| database_cross_reference |
UMLS_CUI:C0265313 MESH:D056846 UMLS_CUI:C1869115 UMLS_CUI:C1869114 MIM:PS277600 SNOMEDCT_US_2023_03_01:205801004 GARD:4936 MIM:277600 MIM:608328 MIM:613195 MIM:614819 NCI:C85226 ORDO:3449 |
|
| definition |
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. Xref MGI. OMIM mapping confirmed by DO. [LS]. |
|
| has exact synonym |
Mesodermal Dysmorphodystrophy, Congenital Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy GEMSS syndrome |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050475 |
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| in_subset | ||
| label |
Weill-Marchesani syndrome |
|
| notation |
DOID:0050475 |
|
| note |
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. Xref MGI. OMIM mapping confirmed by DO. [LS]. |
|
| preferred label |
Weill-Marchesani syndrome |
|
| prefLabel |
Weill-Marchesani syndrome |
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| subClassOf |