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 11 - 20 of 100 in total
Gene ID Gene Symbol Description Source
1056 CEL carboxyl ester lipase
1087 CEACAM7 CEA cell adhesion molecule 7
1119 CHKA choline kinase alpha
1462 VCAN versican
1577 CYP3A5 cytochrome P450 family 3 subfamily A member 5
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2194 FASN fatty acid synthase
2203 FBP1 fructose-bisphosphatase 1

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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