WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050177
Child Term . Identifier  DOID:0080677 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.

1 Parent Term

Identifier Name Description
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.