obsolete Matthew-Wood syndrome

Summary
Definition
A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
External Links
Disease Ontology
DOID:0050819
Related Genes
Displaying entries 71 - 80 of 100 in total
Gene ID Gene Symbol Description Source
6713 SQLE squalene epoxidase
7412 VCAM1 vascular cell adhesion molecule 1
8050 PDHX pyruvate dehydrogenase complex component X
8473 OGT O-linked N-acetylglucosamine (GlcNAc) transferase
8505 PARG poly(ADP-ribose) glycohydrolase
8692 HYAL2 hyaluronidase 2
9365 KL klotho
10232 MSLN mesothelin
10724 OGA O-GlcNAcase
23417 MLYCD malonyl-CoA decarboxylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024