WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060945 amelogenesis imperfecta type 1K Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.

1 Ontology

Name
Disease Ontology

9 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:403 mouth disease A gastrointestinal system disease that is located_in the mouth.
DOID:1091 tooth disease A mouth disease located_in the teeth.
DOID:2187 amelogenesis imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation.
DOID:0060945 amelogenesis imperfecta type 1K An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21.
DOID:693 dental enamel hypoplasia  
DOID:214 teeth hard tissue disease  

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:2187 DOID:0060945
is_a DOID:693 DOID:0060945
is_a DOID:1091 DOID:0060945
is_a DOID:214 DOID:0060945
is_a DOID:403 DOID:0060945
is_a DOID:7 DOID:0060945
is_a DOID:4 DOID:0060945
is_a DOID:77 DOID:0060945

0 Synonyms