Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	histidinemia
Synonyms	Histidinuria HIS deficiency histidase deficiency histidine ammonia-lyase deficiency Hal deficiency hyperhistidinemia histidinuria histidinemia
Definitions	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
ID	http://purl.obolibrary.org/obo/MONDO_0009345
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0009345
database_cross_reference	Orphanet:2157 OMIM:235800 MESH:C538320 MEDGEN:113135 SCTID:410058007 icd11.foundation:261052955 UMLS:C0220992 ICD10CM:E70.41 DOID:0060168 GARD:6661 NORD:1245
definition	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
has_exact_synonym	Histidinuria HIS deficiency histidase deficiency histidine ammonia-lyase deficiency Hal deficiency hyperhistidinemia histidinuria histidinemia
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0009345
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#mostly_harmless http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	histidinemia
notation	MONDO:0009345
preferred label	histidinemia
prefLabel	histidinemia
see also	https://rarediseases.info.nih.gov/diseases/6661/histidinemia
skos_exactMatch	http://identifiers.org/mesh/C538320 http://purl.obolibrary.org/obo/DOID_0060168 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/261052955 http://linkedlifedata.com/resource/umls/id/C0220992 http://purl.bioontology.org/ontology/ICD10CM/E70.41 http://identifiers.org/snomedct/410058007 http://identifiers.org/medgen/113135 http://purl.obolibrary.org/obo/Orphanet_2157 https://omim.org/entry/235800
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019228

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009345	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009345	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009345	EFO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060168	DOID	LOOM
http://identifiers.org/omim/235800	REXO	LOOM
http://identifiers.org/omim/235800	GEXO	LOOM
http://identifiers.org/omim/235800	RETO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15084	DERMLEX	LOOM
http://purl.obolibrary.org/obo/DOID_0060168	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0060168	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060168	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0060168	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060168	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0009345	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009345	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009345	EFO	LOOM
http://purl.bioontology.org/ontology/OMIM/235800	OMIM	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.41	ICD10CM	LOOM
http://purl.bioontology.org/ontology/LNC/LA12498-4	LOINC	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3355	HRDO	LOOM
http://purl.bioontology.org/ontology/CSP/1849-0778	CRISP	LOOM
http://purl.jp/bio/4/id/200906050545373096	IOBC	LOOM
http://purl.bioontology.org/ontology/MESH/C538320	MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_2157	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538320	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_235800	CCO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/410058007	SNOMEDCT	LOOM