Mondo Disease Ontology

Last uploaded: December 3, 2024
Preferred Name

inborn disorder of phenylalanine and tyrosine metabolism
Synonyms

disorder of phenylalanin or tyrosine metabolism

inborn disorder of phenylalanin or tyrosine metabolism

ID

http://purl.obolibrary.org/obo/MONDO_0019235

database_cross_reference

UMLS:C5681284

GARD:18964

Orphanet:79190

MEDGEN:1842953

has_exact_synonym

inborn disorder of phenylalanin or tyrosine metabolism

has_related_synonym

disorder of phenylalanin or tyrosine metabolism

IAO_0000233

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

id

MONDO:0019235

in_subset

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

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

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

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

label

inborn disorder of phenylalanine and tyrosine metabolism

notation

MONDO:0019235

prefLabel

inborn disorder of phenylalanine and tyrosine metabolism

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_79190

http://linkedlifedata.com/resource/umls/id/C5681284

http://identifiers.org/medgen/1842953

treeView

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

excluded subClassOf

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

subClassOf

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

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