Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

amelogenesis imperfecta type 1G

Synonyms

amelogenesis imperfecta and nephrocalcinosis

absent enamel, nephrocalcinosis and apparently normal calcium metabolism

amelogenesis imperfecta hypoplastic with nephrocalcinosis

amelogenesis imperfecta type Ig

amelogenesis imperfecta hypoplastic type, Ig

AI1G

FAM20A amelogenesis imperfecta

amelogenesis imperfecta caused by mutation in FAM20A

amelogenesis imperfecta, type Ig

amelogenesis imperfecta, type Ig; AI1G

amelogenesis imperfecta and gingival fibromatosis syndrome

generalized enamel hypoplasia and renal dysfunction

enamel-renal syndrome

ers

amelogenesis imperfecta nephrocalcinosis

amelogenesis imperfecta-nephrocalcinosis syndrome

amelogenesis imperfecta, type 1G

amelogenesis imperfecta, hypoplastic, with nephrocalcinosis

enamel-renal-gingival syndrome

enamel renal syndrome

AIGFS

Definitions

Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.

ID

http://purl.obolibrary.org/obo/MONDO_0008771

database_cross_reference

MESH:C538241

OMIM:204690

GARD:0000646

Orphanet:1031

SCTID:109477002

DOID:0110066

ICD10:K00.5

ICD9:520.5

GARD:0009860

definition

Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.

exactMatch

http://identifiers.org/snomedct/109477002

http://linkedlifedata.com/resource/umls/id/C0403549

http://identifiers.org/omim/204690

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

http://linkedlifedata.com/resource/umls/id/C2931783

http://purl.obolibrary.org/obo/Orphanet_1031

http://identifiers.org/mesh/C538241

has_exact_synonym

amelogenesis imperfecta hypoplastic with nephrocalcinosis

amelogenesis imperfecta type Ig

AI1G

FAM20A amelogenesis imperfecta

amelogenesis imperfecta caused by mutation in FAM20A

amelogenesis imperfecta and gingival fibromatosis syndrome

enamel-renal syndrome

ers

enamel-renal-gingival syndrome

AIGFS

has_related_synonym

amelogenesis imperfecta and nephrocalcinosis

absent enamel, nephrocalcinosis and apparently normal calcium metabolism

amelogenesis imperfecta hypoplastic type, Ig

AI1G

amelogenesis imperfecta, type Ig

amelogenesis imperfecta, type Ig; AI1G

generalized enamel hypoplasia and renal dysfunction

amelogenesis imperfecta nephrocalcinosis

amelogenesis imperfecta-nephrocalcinosis syndrome

amelogenesis imperfecta, type 1G

amelogenesis imperfecta, hypoplastic, with nephrocalcinosis

enamel renal syndrome

id

MONDO:0008771

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome

label

amelogenesis imperfecta type 1G

notation

MONDO:0008771

prefLabel

amelogenesis imperfecta type 1G

treeView

http://purl.obolibrary.org/obo/MONDO_0015336

http://purl.obolibrary.org/obo/MONDO_0019507

http://purl.obolibrary.org/obo/MONDO_0019743

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015336

http://purl.obolibrary.org/obo/MONDO_0019507

http://purl.obolibrary.org/obo/MONDO_0019743

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http://purl.obolibrary.org/obo/DOID_0110066 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110066 NIFSTD LOOM