WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110054 amelogenesis imperfecta type 1A Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.

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: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:0110054 amelogenesis imperfecta type 1A An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0110054
is_a DOID:2187 DOID:0110054
is_a DOID:693 DOID:0110054
is_a DOID:0050739 DOID:0110054
is_a DOID:77 DOID:0110054
is_a DOID:1091 DOID:0110054
is_a DOID:0050177 DOID:0110054
is_a DOID:403 DOID:0110054
is_a DOID:214 DOID:0110054
is_a DOID:7 DOID:0110054
is_a DOID:630 DOID:0110054
is_a DOID:4 DOID:0110054

3 Synonyms

Name Type
AI1A synonym
amelogenesis imperfecta hypoplastic type IA synonym
amelogenesis imperfecta type IA synonym