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dicarboxylic aminoaciduria

Go to external page http://purl.obolibrary.org/obo/MONDO_0009110

Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. [ Orphanet:2195 ]

Synonyms: dicarboxylic aminoaciduria glutamate-aspartate transport defect

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:2195 (OMIM:222730)
  • SCTID:716747007 (MONDO:equivalentTo)
  • UMLS:C1857253 (Orphanet:2195/e)
  • GARD:1855 (Orphanet:2195)
  • OMIM:222730 (Orphanet:2195/e)
  • DOID:0060650 (MONDO:equivalentTo)
  • MESH:C536171 (Orphanet:2195/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

exactMatch

http://identifiers.org/snomedct/716747007

http://linkedlifedata.com/resource/umls/id/C1857253

http://www.orpha.net/ORDO/Orphanet_2195

http://identifiers.org/mesh/C536171

http://purl.obolibrary.org/obo/DOID_0060650

https://omim.org/entry/222730

has related synonym

DCBXA

glutamate-aspartate Transport defect

Dicarboxylicaminoaciduria

id

MONDO:0009110

seeAlso

https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria

https://search.clinicalgenome.org/kb/conditions/MONDO:0009110

Term relations