Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

congenital hypothyroidism

Definitions

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

ID

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

comment

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

database_cross_reference

ICD9CM:243

MESH:D003409

OMIM:PS275200

GARD:1487

ICD10CM:E03.1

SNOMEDCT_US_2022_09_01:217710005

ICD10CM:E00.1

UMLS_CUI:C0010308

NCI:C26734

UMLS_CUI:C0342200

SNOMEDCT_US_2022_09_01:75065003

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#DO_rare_slim

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

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/HP_0000851 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP56766-6 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D003409 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025182 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003987 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5A00.0 International Classification of Diseases, 11th Edition, China LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26734 National Cancer Institute Thesaurus LOOM