JSON

[X] monogenic diabetes

Go to external page http://purl.obolibrary.org/obo/MONDO_0015967

Diabetes mellitus that is caused by mutations in a single gene. [ https://doi.org/10.2337/dci20-0065 ]

Synonyms: rare genetic diabetes mellitus monogenic diabetes

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:183625 (MONDO:equivalentTo)
  • EFO:1001511 (MONDO:equivalentTo)
  • NCIT:C129739 (MONDO:equivalentTo)
  • UMLS:C3888631 (MONDO:equivalentTo)
  • MEDGEN:1392102 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_endocrine_system_disorder, inferred_rare, matrix_txgnn_grouping_endocrine_system_disorder, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_diabetes_mellitus, mondo_top_grouping_digestive_system_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_endocrine_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, harrisons_view_digestive_system_disorder, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease, ordo_group_of_disorders

ClinGen label
monogenic diabetes [ NCIT:C129739 ]

contributor

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

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0015967

exactMatch

http://purl.obolibrary.org/obo/NCIT_C129739

http://linkedlifedata.com/resource/umls/id/C3888631

http://www.orpha.net/ORDO/Orphanet_183625

http://www.ebi.ac.uk/efo/EFO_1001511

http://identifiers.org/medgen/1392102

id

MONDO:0015967

term tracker item

https://github.com/monarch-initiative/mondo/issues/254