WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050739
Child Term . Identifier  DOID:0070127 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0070127 congenital nongoitrous hypothyroidism 3 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1.

1 Parent Term

Identifier Name Description
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.