Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

inborn disorder of histidine metabolism
Synonyms

disturbance of histidine metabolism

inborn error of histidine metabolic process

histidine metabolic process disease

inborn histidine metabolic process disorder

rare inborn error of histidine metabolic process

disorder of histidine metabolism

inborn error of histidine metabolism

histidine metabolism disease

disorder of histidine metabolic process

inborn disorder of histidine metabolism

Definitions

An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.

ID

http://purl.obolibrary.org/obo/MONDO_0019228

database_cross_reference

icd11.foundation:543162269

ICD10CM:E70.40

UMLS:C0268512

SCTID:44176004

MEDGEN:541342

Orphanet:79181

DOID:9265

GARD:18959

ICD9:270.5

definition

An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.

has_exact_synonym

disturbance of histidine metabolism

inborn error of histidine metabolic process

histidine metabolic process disease

inborn histidine metabolic process disorder

rare inborn error of histidine metabolic process

disorder of histidine metabolism

inborn error of histidine metabolism

histidine metabolism disease

disorder of histidine metabolic process

inborn disorder of histidine metabolism

IAO_0000233

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

https://github.com/monarch-initiative/mondo/issues/5364

id

MONDO:0019228

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

inborn disorder of histidine metabolism

notation

MONDO:0019228

preferred label

inborn disorder of histidine metabolism

prefLabel

inborn disorder of histidine metabolism

skos_exactMatch

http://purl.obolibrary.org/obo/DOID_9265

http://purl.bioontology.org/ontology/ICD10CM/E70.40

http://linkedlifedata.com/resource/umls/id/C0268512

http://purl.obolibrary.org/obo/Orphanet_79181

http://identifiers.org/medgen/541342

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/543162269

http://identifiers.org/snomedct/44176004

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019189

http://purl.obolibrary.org/obo/MONDO_0045022

http://purl.obolibrary.org/obo/MONDO_0004736

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019189

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