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Weill-Marchesani syndrome
Summary
- Synonym
-
- GEMSS syndrome
- Marchesani-Weill Syndrome
- Mesodermal Dysmorphodystrophy, Congenital
- Spherophakia Brachymorphia Syndrome
- congenital mesodermal dystrophy
- Definition
- A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:0050475
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
