WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:630
Child Term . Identifier  DOID:0111158 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0111158 SADDAN A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.

1 Parent Term

Identifier Name Description
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.