neural tube defect

Summary
Definition
A physical disorder characterized by incomplete closure of the neural tube.
Super Class
physical disorder
Disease Ontology
DOID:0080074
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
875 CBS cystathionine beta-synthase
4040 LRP6 LDL receptor related protein 6
4522 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
6862 TBXT T-box transcription factor T
6997 CRIPTO cripto, EGF-CFC family member
25902 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
80199 FUZ fuzzy planar cell polarity protein
Displaying all 3 entries
Gene ID Gene Symbol Description Source
16974 Lrp6 low density lipoprotein receptor-related protein 6
21667 Cripto cripto, EGF-CFC family member
108156 Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
The Human Phenotype Ontology
Displaying all 3 entries
HPO ID HPO Term
HP:0001939 Abnormality of metabolism/homeostasis
HP:0000007 Autosomal recessive inheritance
HP:0010301 Spinal dysraphism
Displaying 1 entry
Gene ID Gene Symbol Description
4522 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 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: December 9, 2024