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Standards Ontologies Notations
DiGeorge syndrome

Summary
Synonym
  • 22q11.2 deletion syndrome
  • DiGeorge sequence
  • DiGeorge's syndrome
  • Pharyngeal pouch syndrome
Definition
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Super Class
autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
Disease Ontology
DOID:11198
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
1312 COMT catechol-O-methyltransferase
2629 GBA1 glucosylceramidase beta 1
3340 NDST1 N-deacetylase and N-sulfotransferase 1
6576 SLC25A1 solute carrier family 25 member 1
6783 SULT1E1 sulfotransferase family 1E member 1
8398 PLA2G6 phospholipase A2 group VI
9993 DGCR2 DiGeorge syndrome critical region gene 2
27163 NAAA N-acylethanolamine acid amidase
130749 CPO carboxypeptidase O
Displaying 1 entry
Gene ID Gene Symbol Description Source
15531 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29633 Ndst1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38736 sfl sulfateless
Displaying all 2 entries
Gene ID Gene Symbol Description Source
570459 ndst1b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b
100329944 ndst1a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496577 ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177675 hst-1 Heparan sulfate N-sulfotransferase 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 131 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000076 Vesicoureteral reflux
HP:0000089 Renal hypoplasia
HP:0000113 Polycystic kidney dysplasia
HP:0000130 Abnormality of the uterus
HP:0000160 Narrow mouth
HP:0000164 Abnormality of the dentition
HP:0000175 Cleft palate
Displaying 1 entry
Gene ID Gene Symbol Description
1312 COMT catechol-O-methyltransferase
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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