WormMine: DiseaseOntology DOID:0110066 amelogenesis imperfecta type 1G Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

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:0110066	amelogenesis imperfecta type 1G	An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

12 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:2187	DOID:0110066
is_a	DOID:0050737	DOID:0110066
is_a	DOID:0050739	DOID:0110066
is_a	DOID:1091	DOID:0110066
is_a	DOID:0050177	DOID:0110066
is_a	DOID:403	DOID:0110066
is_a	DOID:4	DOID:0110066
is_a	DOID:214	DOID:0110066
is_a	DOID:7	DOID:0110066
is_a	DOID:77	DOID:0110066
is_a	DOID:630	DOID:0110066
is_a	DOID:693	DOID:0110066

8 Synonyms

• Name: ERS
• Type: synonym

• Name: AI1G
• Type: synonym

• Name: AIGFS
• Type: synonym

• Name: amelogenesis imperfecta and gingival fibromatosis syndrome
• Type: synonym

• Name: amelogenesis imperfecta hypoplastic with nephrocalcinosis
• Type: synonym

• Name: amelogenesis imperfecta type IG
• Type: synonym

• Name: enamel-renal syndrome
• Type: synonym

• Name: enamel-renal-gingival syndrome
• Type: synonym