Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Oroticaciduria

Synonyms

Orotic aciduria

Increased urinary orotic acid concentration

High urine orotic acid levels

Definitions

An increased concentration of orotic acid in the urine. Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.

ID

http://purl.obolibrary.org/obo/HP_0003218

comment

Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.

database_cross_reference

UMLS:C0268128

SNOMEDCT_US:47641009

SNOMEDCT_US:124277009

definition

An increased concentration of orotic acid in the urine.

has_alternative_id

HP:0010928

HP:0000810

has_exact_synonym

Increased urinary orotic acid concentration

High urine orotic acid levels

has_obo_namespace

human_phenotype

has_related_synonym

Orotic aciduria

id

HP:0003218

label

Oroticaciduria

notation

HP:0003218

prefLabel

Oroticaciduria

treeView

http://purl.obolibrary.org/obo/HP_0031980

subClassOf

http://purl.obolibrary.org/obo/HP_0031980

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http://purl.obolibrary.org/obo/MONDO_0009797 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009797 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050833 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/258900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU023453 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM