Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

inherited thyroid metabolism disease
Synonyms

inborn thyroid hormone metabolic process disorder

rare inborn error of thyroid hormone metabolic process

inborn error of thyroid hormone metabolic process

inherited disorder of thyroid metabolism

Definitions

An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.

ID

http://purl.obolibrary.org/obo/MONDO_0045046

database_cross_reference

MEDGEN:543589

UMLS:C0271824

SCTID:36985004

ICD9:246.8

definition

An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0271824

http://identifiers.org/snomedct/36985004

http://identifiers.org/medgen/543589

has_exact_synonym

inborn thyroid hormone metabolic process disorder

rare inborn error of thyroid hormone metabolic process

inborn error of thyroid hormone metabolic process

inherited disorder of thyroid metabolism

id

MONDO:0045046

in_subset

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

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

label

inherited thyroid metabolism disease

notation

MONDO:0045046

preferred label

inherited thyroid metabolism disease

prefLabel

inherited thyroid metabolism disease

subClassOf

http://www.ebi.ac.uk/efo/EFO_1000627

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

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