WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:1085 Edwards syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.

1 Ontology

Name
Disease Ontology

5 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
DOID:1085 Edwards syndrome A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.

4 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060429 DOID:1085
is_a DOID:4 DOID:1085
is_a DOID:0080014 DOID:1085
is_a DOID:630 DOID:1085

3 Synonyms

Name Type
Complete trisomy 18 syndrome synonym
E3 Trisomy synonym
trisomy 18 synonym