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 1 - 10 of 100 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
98 ACYP2 acylphosphatase 2
142 PARP1 poly(ADP-ribose) polymerase 1
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
811 CALR calreticulin
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
1048 CEACAM5 CEA cell adhesion molecule 5

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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