WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080960 amelogenesis imperfecta type 2A6 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.

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: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:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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:693 dental enamel hypoplasia  
DOID:214 teeth hard tissue disease  
DOID:0080960 amelogenesis imperfecta type 2A6 An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0080960
is_a DOID:2187 DOID:0080960
is_a DOID:0050177 DOID:0080960
is_a DOID:77 DOID:0080960
is_a DOID:630 DOID:0080960
is_a DOID:1091 DOID:0080960
is_a DOID:4 DOID:0080960
is_a DOID:693 DOID:0080960
is_a DOID:7 DOID:0080960
is_a DOID:0050739 DOID:0080960
is_a DOID:214 DOID:0080960
is_a DOID:403 DOID:0080960

1 Synonyms

Name Type
Amelogenesis imperfecta, hypomaturation type, IIA6 synonym