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 81 - 90 of 100 in total
Gene ID Gene Symbol Description Source
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
26503 SLC17A5 solute carrier family 17 member 5
27036 SIGLEC7 sialic acid binding Ig like lectin 7
27349 MCAT malonyl-CoA-acyl carrier protein transacylase
29071 C1GALT1C1 C1GALT1 specific chaperone 1
51363 CHST15 carbohydrate sulfotransferase 15
51548 SIRT6 sirtuin 6
54947 LPCAT2 lysophosphatidylcholine acyltransferase 2
54978 SLC35F6 solute carrier family 35 member F6
56913 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024