BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

carbamoyl phosphate synthetase I deficiency disease

Synonyms

CPS I deficiency

Definitions

OMIM mapping confirmed by DO. [SN]. A urea cycle disorder that involves accumulation of ammonia in the blood.

ID

http://purl.obolibrary.org/obo/DOID_9280

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D020165

SNOMEDCT_US_2020_03_01:765329008

OMIM:237300

UMLS_CUI:C0751753

GARD:7269

NCI:C84612

has exact synonym

CPS I deficiency

has_obo_namespace

disease_ontology

id

DOID:9280

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

carbamoyl phosphate synthetase I deficiency disease

notation

DOID:9280

prefLabel

carbamoyl phosphate synthetase I deficiency disease

textual definition

A urea cycle disorder that involves accumulation of ammonia in the blood.

subClassOf

http://purl.obolibrary.org/obo/DOID_9267

http://purl.obolibrary.org/obo/DOID_0050737

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The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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