JSON

histidinuria due to a renal tubular defect

Go to external page http://purl.obolibrary.org/obo/MONDO_0009346

Synonyms: histidinuria-renal tubular defect syndrome histidinuria due to a renal tubular defect

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:2158 (OMIM:235830)
  • OMIM:235830 (Orphanet:2158)
  • MEDGEN:82825 (MONDO:equivalentTo)
  • MESH:C538321 (Orphanet:2158)
  • GARD:2708 (MONDO:GARD)
  • UMLS:C0268642 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, 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, nord_rare, 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, orphanet_rare, harrisons_view_metabolic_disease

exactMatch

http://identifiers.org/medgen/82825

http://www.orpha.net/ORDO/Orphanet_2158

http://linkedlifedata.com/resource/umls/id/C0268642

http://identifiers.org/mesh/C538321

https://omim.org/entry/235830

excluded from qc check

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

http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

id

MONDO:0009346

term tracker item

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