WormBase Tree Display for DO_term: DOID:0070124
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DOID:0070124 | Name | congenital nongoitrous hypothyroidism 2 | |||
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Status | Valid | ||||
Definition | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. | ||||
Synonym | Exact | CHNG2 | |||
congenital hypothyroidism due to thyroid dysgenesis or hypoplasia | |||||
Parent | Is_a | DOID:0050328 | |||
DOID:0050736 | |||||
DB_info | Database | OMIM | disease | 218700 | |
Attribute_of | Gene_by_orthology | WBGene00001204 | |||
WBGene00003938 |