Preferred Name

amelogenesis imperfecta type 1G

Synonyms

AI1G

ERS

amelogenesis imperfecta hypoplastic with nephrocalcinosis

enamel-renal-gingival syndrome

AIGFS

amelogenesis imperfecta type IG

enamel-renal syndrome

amelogenesis imperfecta and gingival fibromatosis syndrome

Definitions

An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

ID

http://purl.obolibrary.org/obo/DOID_0110066

database_cross_reference

OMIM:204690

ICD10CM:K00.5

ORDO:1031

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_exact_synonym

AI1G

ERS

amelogenesis imperfecta hypoplastic with nephrocalcinosis

enamel-renal-gingival syndrome

AIGFS

amelogenesis imperfecta type IG

enamel-renal syndrome

amelogenesis imperfecta and gingival fibromatosis syndrome

has_obo_namespace

disease_ontology

id

DOID:0110066

label

amelogenesis imperfecta type 1G

notation

DOID:0110066

prefLabel

amelogenesis imperfecta type 1G

textual definition

An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

subClassOf

http://purl.obolibrary.org/obo/DOID_2187

http://purl.obolibrary.org/obo/DOID_0050737

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http://purl.obolibrary.org/obo/MONDO_0008771 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008771 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0110066 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0110066 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110066 DOID SAME_URI