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Disease Ontology Browser
Weill-Marchesani syndrome (DOID:0050475)
Alliance: disease page
Synonyms: congenital mesodermal dystrophy; GEMSS syndrome; Marchesani-Weill Syndrome; Mesodermal Dysmorphodystrophy, Congenital; Spherophakia Brachymorphia Syndrome
Alt IDs: OMIM:277600, OMIM:608328, OMIM:613195, OMIM:614819, MESH:D056846, NCI:C85226, OMIM:PS277600, ORDO:3449, UMLS_CUI:C0265313, UMLS_CUI:C1869114, UMLS_CUI:C1869115
Definition: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory