Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

amelogenesis imperfecta type 1G

Synonyms

ERS

amelogenesis imperfecta hypoplastic with nephrocalcinosis

AI1G

amelogenesis imperfecta and gingival fibromatosis syndrome

enamel-renal syndrome

amelogenesis imperfecta type IG

enamel-renal-gingival syndrome

AIGFS

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

definition

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

has_exact_synonym

ERS

amelogenesis imperfecta hypoplastic with nephrocalcinosis

AI1G

amelogenesis imperfecta and gingival fibromatosis syndrome

enamel-renal syndrome

amelogenesis imperfecta type IG

enamel-renal-gingival syndrome

AIGFS

has_obo_namespace

disease_ontology

id

DOID:0110066

label

amelogenesis imperfecta type 1G

notation

DOID:0110066

prefLabel

amelogenesis imperfecta type 1G

treeView

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

subClassOf

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

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Delete Mapping To Ontology Source
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 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0110066 NIFSTD SAME_URI