Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

generalized resistance to thyroid hormone
Synonyms

deafness-thyroid hormone resistance syndrome

Refetoff syndrome

GRTH

Definitions

A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.

ID

http://purl.obolibrary.org/obo/MONDO_0009043

database_cross_reference

UMLS:C4722330

Orphanet:3221

MEDGEN:1654700

GARD:301

definition

A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4722330

http://identifiers.org/medgen/1654700

has_exact_synonym

Refetoff syndrome

GRTH

has_narrow_synonym

deafness-thyroid hormone resistance syndrome

id

MONDO:0009043

in_subset

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

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

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

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

generalized resistance to thyroid hormone

notation

MONDO:0009043

preferred label

generalized resistance to thyroid hormone

prefLabel

generalized resistance to thyroid hormone

subClassOf

http://www.ebi.ac.uk/efo/EFO_0009189

http://purl.obolibrary.org/obo/MONDO_0001328

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