Weill-Marchesani Syndrome
Disease ID: disease_node_12336
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| Dbxref | GARD:4936, MESH:D056846, MIM:277600, MIM:608328, MIM:613195, MIM:614819, MIM:PS277600, NCI:C85226, ORDO:3449, SNOMEDCT_US_2023_03_01:205801004, UMLS_CUI:C0265313, UMLS_CUI:C1869114, UMLS_CUI:C1869115 |
|---|---|
| Subclassof | DOID_225, DOID_0050739 |
| Data Source | DOID, MESH |
| Synonyms | GEMSS syndrome, Marchesani-Weill Syndrome, Mesodermal Dysmorphodystrophy, Congenital, Spherophakia Brachymorphia Syndrome, congenital mesodermal dystrophy |
| Mesh Id | D056846 |
| Mesh Label | Weill-Marchesani Syndrome |
| Mesh Subclassof | D003240, D004392, D000015, D015785 |
| Doid Label | Weill-Marchesani syndrome |
| Doid Description | 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 Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_12336 |
| Doid Id | DOID_0050475 |
| Label | Weill-Marchesani Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)