Experimental Factor Ontology

Last uploaded: September 16, 2024
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Preferred Name

permanent congenital hypothyroidism
Synonyms
Definitions

Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.
ID

http://purl.obolibrary.org/obo/MONDO_0016408
database_cross_reference

Orphanet:226292

UMLS:C5680893

MEDGEN:1843186

GARD:20560
definition

Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.
exactMatch

http://linkedlifedata.com/resource/umls/id/C5680893

http://www.orpha.net/ORDO/Orphanet_226292

http://identifiers.org/medgen/1843186
IAO_0000233

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

MONDO:0016408
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

permanent congenital hypothyroidism
notation

MONDO:0016408
preferred label

permanent congenital hypothyroidism
prefLabel

permanent congenital hypothyroidism
subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0015514
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