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glutamate pyruvate transaminase 2 deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0014567

Synonyms: glutamate pyruvate transaminase 2 deficiency mental retardation, autosomal recessive type 49 mental retardation, autosomal recessive 49 MRT49 neurodevelopmental disorder with microcephaly and spastic paraplegia postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome GPT2 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/6877

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/6752

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/616281

http://www.orpha.net/ORDO/Orphanet_477673

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0014567

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014567

Term relations