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
- OMIM:235830 (Orphanet:2158)
- Orphanet:2158 (OMIM:235830)
- MEDGEN:82825 (MONDO:equivalentTo)
- GARD:2708 (MONDO:GARD)
- UMLS:C0268642 (MONDO:equivalentTo)
- MESH:C538321 (Orphanet:2158)
Subsets
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
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