WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:11725 Cornelia de Lange syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

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:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:11725 Cornelia de Lange syndrome A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:11725 DOID:0060970
is_a DOID:11725 DOID:0080505
is_a DOID:11725 DOID:0080506
is_a DOID:11725 DOID:0080507
is_a DOID:11725 DOID:0080508
is_a DOID:11725 DOID:0080509
is_a DOID:0050177 DOID:11725
is_a DOID:225 DOID:11725
is_a DOID:630 DOID:11725
is_a DOID:4 DOID:11725

2 Synonyms

Name Type
Brachmann de Lange syndrome synonym
De Lange syndrome synonym