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Disease Ontology Browser
Weill-Marchesani syndrome (DOID:0050475)
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, ORDO:3449, UMLS_CUI:C0265313, UMLS_CUI:C1869114, UMLS_CUI:C1869115
Definition: An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory