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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2200 | FBN1 | fibrillin 1 | |
| 4053 | LTBP2 | latent transforming growth factor beta binding protein 2 | |
| 7124 | TNF | tumor necrosis factor | |
| 81794 | ADAMTS10 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | |
| 170691 | ADAMTS17 | ADAM metallopeptidase with thrombospondin type 1 motif 17 |
