Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

thyroid hormone resistance syndrome
Synonyms

resistance to thyroid stimulating hormone

resistance to thyrotropin

TSH resistance

RTH

thyroid hormone resistance syndrome

thyroid hormone resistance

thyroid hormone responsiveness defect

generalised thyroid hormone resistance

generalized thyroid hormone resistance

Definitions

An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.

ID

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

database_cross_reference

UMLS:C2940786

NANDO:2100121

MESH:D018382

SCTID:111567006

MEDGEN:424854

NANDO:1200395

NANDO:2200341

DOID:11633

ICD9:259.8

definition

An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.

disease has major feature

http://purl.obolibrary.org/obo/HP_0031097

exactMatch

http://identifiers.org/snomedct/111567006

http://purl.obolibrary.org/obo/DOID_11633

http://identifiers.org/medgen/424854

http://linkedlifedata.com/resource/umls/id/C2940786

http://identifiers.org/mesh/D018382

has_exact_synonym

thyroid hormone resistance syndrome

thyroid hormone resistance

thyroid hormone responsiveness defect

generalised thyroid hormone resistance

generalized thyroid hormone resistance

has_related_synonym

resistance to thyroid stimulating hormone

resistance to thyrotropin

TSH resistance

RTH

id

MONDO:0001328

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

label

thyroid hormone resistance syndrome

notation

MONDO:0001328

preferred label

thyroid hormone resistance syndrome

prefLabel

thyroid hormone resistance syndrome

subClassOf

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

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0005420

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0001328 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0001328 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0001328 DOVES SAME_URI
http://purl.jp/bio/4/id/200906063382154701 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_11633 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11633 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11633 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11633 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11633 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_11633 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11633 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_11633 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0018594 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11633 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/237559000 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85191 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.874.410.500 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Thyroid_Hormone_Resistance_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0001328 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0001328 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0001328 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C85191 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018382 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X40I2 RCD LOOM
http://purl.bioontology.org/ontology/MESH/D018382 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037054 PMAPP-PMO LOOM