Experimental Factor Ontology

Last uploaded: May 15, 2024
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Preferred Name

congenital hypothyroidism
Synonyms

congenital hypothyroidism

congenital iodine deficiency syndrome

infantile hypothyroidism

congenital hypothyroidism not due to iodine deficiency

fetal iodine deficiency syndrome

congenital goiter

cretinism

foetal iodine deficiency syndrome

congenital goitre
Definitions

A thyroid hormone deficiency present from birth.
ID

http://purl.obolibrary.org/obo/MONDO_0018612
closeMatch

http://identifiers.org/meddra/10010510
database_cross_reference

MedDRA:10010510

MESH:D003409

GARD:1487

ICD9:243

Orphanet:442

ICD9:269.3

icd11.foundation:602450215

UMLS:C0010308

SCTID:190268003

ICD9:759.89

SCTID:217710005

NCIT:C26734

DOID:0050328
definition

A thyroid hormone deficiency present from birth.
exactMatch

http://identifiers.org/snomedct/190268003

http://identifiers.org/snomedct/217710005

http://identifiers.org/mesh/D003409

http://purl.obolibrary.org/obo/DOID_0050328

http://purl.obolibrary.org/obo/NCIT_C26734

http://linkedlifedata.com/resource/umls/id/C0010308

http://purl.obolibrary.org/obo/Orphanet_442
has_exact_synonym

congenital hypothyroidism

congenital iodine deficiency syndrome
has_related_synonym

infantile hypothyroidism

congenital hypothyroidism not due to iodine deficiency

fetal iodine deficiency syndrome

congenital goiter

cretinism

foetal iodine deficiency syndrome

congenital goitre
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4069
id

MONDO:0018612
in_subset

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

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

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

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

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

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label

congenital hypothyroidism
notation

MONDO:0018612
prefLabel

congenital hypothyroidism
subClassOf

http://www.ebi.ac.uk/efo/EFO_0004705
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018612 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018612 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018612 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003409 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP56766-6 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Hypothyroidism CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26734 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/C03..00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C03.. RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010510 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0004704 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.297.155 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.132.256 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000851 HP LOOM
http://purl.obolibrary.org/obo/HP_0000851 UPHENO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025182 LOINC LOOM
http://www.gamuts.net/entity#congenital_hypothyroidism GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_2200333 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003987 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.625 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.347 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221001 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190268003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD9CM/243 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037004 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.874.482.281 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_442 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0342200 OCHV LOOM
http://purl.bioontology.org/ontology/ICPC2P/T86004 ICPC2P LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050328 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050328 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050328 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C26734 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_760 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D003409 MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Hypothyroidism PEDTERM LOOM