JSON

congenital disorder of glycosylation type II

Go to external page http://purl.obolibrary.org/obo/MONDO_0005501

A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [ DOID:0050571 http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification ]

Synonyms: congenital disorder of glycosylation type II congenital disorders of glycosylation, type II

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C5574948 (MONDO:equivalentTo)
  • MEDGEN:1812737 (MONDO:equivalentTo)
  • MESH:C535747 (MONDO:equivalentTo)
  • DOID:0050571 (MONDO:equivalentTo)
  • EFO:0005546 (MONDO:equivalentTo)
  • OMIMPS:212066 (https://orcid.org/0000-0002-6601-2165)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

ClinGen label
congenital disorder of glycosylation type II [ DOID:0050571 ]

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0005501

exactMatch

http://identifiers.org/medgen/1812737

https://omim.org/phenotypicSeries/PS212066

http://linkedlifedata.com/resource/umls/id/C5574948

http://www.ebi.ac.uk/efo/EFO_0005546

http://identifiers.org/mesh/C535747

http://purl.obolibrary.org/obo/DOID_0050571

has related synonym

MOGS-CDG

B4GALT1-CDG (CDG-2d)

MGAT2-CDG

B4GALT1-CDG

MOGS-CDG (CDG-2b)

MGAT2-CDG (CDG-2a)

id

MONDO:0005501

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations