WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080280 gingival fibromatosis 5 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12.

1 Ontology

Name
Disease Ontology

13 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
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:77 gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract.
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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:403 mouth disease A gastrointestinal system disease that is located_in the mouth.
DOID:3086 gingival overgrowth  
DOID:0060466 gingival fibromatosis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.
DOID:3388 periodontal disease A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
DOID:1483 gingival disease A periodontal disease that is located_in the gums.
DOID:0080280 gingival fibromatosis 5 A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0080280
is_a DOID:0060466 DOID:0080280
is_a DOID:3388 DOID:0080280
is_a DOID:1483 DOID:0080280
is_a DOID:7 DOID:0080280
is_a DOID:403 DOID:0080280
is_a DOID:0050739 DOID:0080280
is_a DOID:630 DOID:0080280
is_a DOID:0050177 DOID:0080280
is_a DOID:77 DOID:0080280
is_a DOID:4 DOID:0080280
is_a DOID:3086 DOID:0080280

0 Synonyms