Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

inborn disorder of amino acid transport
Synonyms

disorder of amino acid absorption and transport

inborn disorder of amino acid absorption and transport

ID

http://purl.obolibrary.org/obo/MONDO_0019216

database_cross_reference

UMLS:C0268641

icd11.foundation:1631611896

Orphanet:79166

SCTID:16784003

MEDGEN:541381

GARD:18948

ICD9:270.0

exactMatch

http://identifiers.org/medgen/541381

http://purl.obolibrary.org/obo/Orphanet_79166

http://linkedlifedata.com/resource/umls/id/C0268641

http://identifiers.org/snomedct/16784003

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1631611896

has_exact_synonym

inborn disorder of amino acid absorption and transport

has_related_synonym

disorder of amino acid absorption and transport

IAO_0000233

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

id

MONDO:0019216

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 amino acid transport

notation

MONDO:0019216

preferred label

inborn disorder of amino acid transport

prefLabel

inborn disorder of amino acid transport

subClassOf

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

excluded_subClassOf

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

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