WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081250 CIC-rearranged sarcoma Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.

1 Ontology

Name
Disease Ontology

8 Parents

Identifier Name Description
DOID:162 cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
DOID:14566 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division.
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:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived.
DOID:1115 sarcoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
DOID:3098 small cell sarcoma A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
DOID:0081249 EWSR1-negative small round cell tumor A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
DOID:0081250 CIC-rearranged sarcoma An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0081249 DOID:0081250
is_a DOID:3098 DOID:0081250
is_a DOID:4 DOID:0081250
is_a DOID:1115 DOID:0081250
is_a DOID:162 DOID:0081250
is_a DOID:14566 DOID:0081250
is_a DOID:0050687 DOID:0081250

1 Synonyms

Name Type
Capicua transcriptional repressor (CIC)-rearranged sarcoma synonym