congenital brain dysgenesis due to glutamine synthetase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012393


Synonyms: inherited GS deficiency congenital brain dysgenesis due to glutamine synthetase deficiency inherited glutamine synthetase deficiency

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

exactMatch

http://identifiers.org/mesh/C536832

http://linkedlifedata.com/resource/umls/id/C1864910

https://omim.org/entry/610015

http://www.orpha.net/ORDO/Orphanet_71278

has related synonym

glutamine synthase deficiency, congenital systemic

glutamine synthetase deficiency, congenital systemic

glutamine deficiency, congenital

congenital glutamine deficiency

id

MONDO:0012393

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012393

Term relations