congenital hypothyroidism Disease Ontology Browser

Disease Ontology Browser

congenital hypothyroidism (DOID:0050328)
Alliance: disease page
Alt IDs: DOID:11631, DOID:11632, ICD10CM:E00.1, ICD10CM:E03.1, ICD9CM:243, MESH:D003409, NCI:C26734, NCI:C98921, OMIM:PS275200, UMLS_CUI:C0010308, UMLS_CUI:C0342200
Definition: A hypothyroidism that is present at birth.

Term Browser
Genes (23)
Models (14)

Disease References using Mouse Models (16)

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Duox2

Allelic Composition	Genetic Background	Reference	Phenotypes
\Duox2thyd/\Duox2thyd	B6(129)-Duox2^thyd/J	J:121821	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Pax8

Allelic Composition	Genetic Background	Reference	Phenotypes
\Pax8tm1(cre)Mbu/\Pax8tm1(cre)Mbu	involves: 129P2/OlaHsd * C3H/He * C57BL/6	J:80208	View
\Pax8tm1Pgr/\Pax8tm1Pgr	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	J:47310, J:116236	View
\Pax8tm1Pgr/\Pax8tm1Pgr	involves: 129S1/Sv * 129X1/SvJ	J:130062	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Tpo

Allelic Composition	Genetic Background	Reference	Phenotypes
\TpoR479C/\TpoR479C	involves: ICR	J:112930	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Foxe1

Allelic Composition	Genetic Background	Reference	Phenotypes
\Foxe1tm1Rdl/\Foxe1tm1Rdl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:48970	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Runx2

Allelic Composition	Genetic Background	Reference	Phenotypes
\Runx2tm1Kish/\Runx2+	involves: 129P2/OlaHsd * C57BL/6	J:162258	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Slc26a7

Allelic Composition	Genetic Background	Reference	Phenotypes
\Slc26a7tm1Sole/\Slc26a7tm1Sole	involves: 129	J:325346	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Tg

Allelic Composition	Genetic Background	Reference	Phenotypes
\Tgcog/\Tgcog	involves: AKR/J * C57BL/6By	J:8567	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Trhr

Allelic Composition	Genetic Background	Reference	Phenotypes
\Trhrtm1Bau/\Trhrtm1Bau	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:220755	View

Mouse Models

Human Disease Modeled: congenital hypothyroidism
Associated Mouse Gene: Tshr

Allelic Composition	Genetic Background	Reference	Phenotypes
\Tshrhyt/\Tshrhyt	CBy.RF-Tshr^hyt/J	J:110962, J:130062	View
\Tshrhyt-3J/\Tshrhyt-3J	CByJ;CXB10-Tshr^hyt-3J/GrsrJ	J:210510	View
\Tshrhyt-3J/\Tshrhyt-3J	CXB10/HiAJ-Tshr^hyt-3J/GrsrJ	J:210510	View
\Tshrtm1Rmar/\Tshrtm1Rmar	involves: 129S1/Sv * C57BL/6J	J:80513	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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