JSON

galactosemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018116

Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. [ Orphanet:352 ]

Synonyms: galactosaemia galactose intolerance galactosemia

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:271.1 (MONDO:i2s)
  • MedDRA:10017604 (Orphanet:352/e)
  • OMIMPS:230400 (MONDO:equivalentTo)
  • UMLS:C0016952 (MONDO:equivalentTo)
  • SCTID:190745006 (MONDO:equivalentTo)
  • DOID:9870 (MONDO:equivalentTo)
  • SCTID:190749000 (MONDO:relatedTo)
  • NORD:1170 (MONDO:NORD)
  • MEDGEN:8943 (MONDO:equivalentTo)
  • Orphanet:352 (MONDO:equivalentTo)
  • NCIT:C84723 (MONDO:equivalentTo)
  • GARD:2424 (MONDO:GARD)
  • MESH:D005693 (Orphanet:352/e)
Subsets

gard_rare, matrix_llm__is_cancer_other, mondo_top_grouping_disorder_of_visual_system, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_orbital_region, ordo_group_of_disorders, harrisons_view_metabolic_disease

closeMatch

http://identifiers.org/meddra/10017604

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:0018116

exactMatch

http://linkedlifedata.com/resource/umls/id/C0016952

http://purl.obolibrary.org/obo/NCIT_C84723

https://omim.org/phenotypicSeries/PS230400

http://identifiers.org/mesh/D005693

http://purl.obolibrary.org/obo/DOID_9870

http://identifiers.org/medgen/8943

http://identifiers.org/snomedct/190745006

http://www.orpha.net/ORDO/Orphanet_352

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

id

MONDO:0018116

should conform to

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