Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Hypothyroidism, Congenital, Nongoitrous, 2
Synonyms	Hypothyroidism, Athyreotic Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Athyreotic Hypothyroidism
ID	http://purl.bioontology.org/ontology/MESH/C566852
altLabel	Hypothyroidism, Athyreotic Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Athyreotic Hypothyroidism
cui	C1869118
HM	D003409 D050033
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D050033 http://purl.bioontology.org/ontology/MESH/D003409
MDA	20120824
MeSH Frequency	22
notation	C566852
prefLabel	Hypothyroidism, Congenital, Nongoitrous, 2
SC	3
Scope Statement	also known as CHNG2; associated with mutatins in PAX8
TERMUI	T809266 T809265 T809264 T809263
TH	OMIM (2013)
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/218700	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/167415	OMIM	CUI
http://purl.obolibrary.org/obo/MONDO_0024264	MONDO	LOOM
http://purl.bioontology.org/ontology/OMIM/218700	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566852	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_218700	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0024264	DOVES	LOOM
http://identifiers.org/omim/218700	REXO	LOOM
http://identifiers.org/omim/218700	GEXO	LOOM
http://identifiers.org/omim/218700	RETO	LOOM