Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

inborn disorder of lysosomal amino acid transport
Synonyms

disorder of lysosomal amino acid transport

ID

http://purl.obolibrary.org/obo/MONDO_0019246

database_cross_reference

MEDGEN:1842266

Orphanet:79207

UMLS:C5681276

GARD:18974

exactMatch

http://identifiers.org/medgen/1842266

http://linkedlifedata.com/resource/umls/id/C5681276

http://purl.obolibrary.org/obo/Orphanet_79207

has_related_synonym

disorder of lysosomal amino acid transport

id

MONDO:0019246

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 lysosomal amino acid transport

notation

MONDO:0019246

preferred label

inborn disorder of lysosomal amino acid transport

prefLabel

inborn disorder of lysosomal amino acid transport

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002561

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