Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

congenital hypothyroidism
Synonyms
Definitions

A hypothyroidism that is present at birth. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

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

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

MIM:PS275200

ICD10CM:E00.1

SNOMEDCT_US_2023_03_01:217710005

MESH:D003409

ICD10CM:E03.1

UMLS_CUI:C0342200

UMLS_CUI:C0010308

SNOMEDCT_US_2023_03_01:75065003

GARD:1487

ICD9CM:243

NCI:C26734

NCI:C98921
definition

A hypothyroidism that is present at birth.
disease has basis in

http://purl.obolibrary.org/obo/HP_0001197
has_alternative_id

DOID:11631

DOID:11632
has_obo_namespace

disease_ontology
id

DOID:0050328
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

congenital hypothyroidism
notation

DOID:0050328
prefLabel

congenital hypothyroidism
subClassOf

http://purl.obolibrary.org/obo/DOID_1459

http://purl.obolibrary.org/obo/DOID_0080015
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050328 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050328 FNS-H 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 EFO 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://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 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DDSS 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
rgo:29831 GAMUTS 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