WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050177
Child Term . Identifier  DOID:0070301 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0070301 multiple epiphyseal dysplasia 6 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.

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.