Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

inborn aminoacylase deficiency

Synonyms

inborn error of aminoacylase activity

inborn aminoacylase activity disorder

rare inborn error of aminoacylase activity

aminoacylase deficiency

Definitions

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.

ID

http://purl.obolibrary.org/obo/MONDO_0017686

database_cross_reference

Orphanet:308448

GARD:21304

definition

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_308448

has_exact_synonym

inborn error of aminoacylase activity

inborn aminoacylase activity disorder

rare inborn error of aminoacylase activity

has_related_synonym

aminoacylase deficiency

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6752

id

MONDO:0017686

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 aminoacylase deficiency

notation

MONDO:0017686

prefLabel

inborn aminoacylase deficiency

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052

http://purl.obolibrary.org/obo/MONDO_0100545

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