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 61 - 70 of 100 in total
Gene ID Gene Symbol Description Source
5333 PLCD1 phospholipase C delta 1
5337 PLD1 phospholipase D1
5621 PRNP prion protein (Kanno blood group)
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
5968 REG1B regenerating family member 1 beta
6382 SDC1 syndecan 1
6383 SDC2 syndecan 2
6480 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1
6646 SOAT1 sterol O-acyltransferase 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