spina bifida

Summary
Definition
A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
Super Class
neural tube defect
Disease Ontology
DOID:0080016
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
328 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1
2735 GLI1 GLI family zinc finger 1
2736 GLI2 GLI family zinc finger 2
4522 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
4548 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
5727 PTCH1 patched 1
6045 RNF2 ring finger protein 2
23512 SUZ12 SUZ12 polycomb repressive complex 2 subunit
Displaying all 4 entries
Gene ID Gene Symbol Description Source
14633 Gli2 GLI-Kruppel family member GLI2
19206 Ptch1 patched 1
22773 Zic3 zinc finger protein of the cerebellum 3
108156 Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
Displaying 1 entry
Gene ID Gene Symbol Description Source
35851 ptc patched
Displaying all 2 entries
Gene ID Gene Symbol Description Source
173631 ptc-3 Protein patched homolog 3
174274 ptc-1 Protein patched homolog 1;SSD domain-containing protein

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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