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amelogenesis imperfecta type 1G

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

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. [ Orphanet:1031 ]

Term info

database cross reference
  • Orphanet:171836 (MONDO:equivalentTo)
  • OMIM:204690 (Orphanet:1031/e)
  • OMIM:614253 (Orphanet:171836/e)
  • ICD9:520.5 (MONDO:relatedTo)
  • SCTID:109477002 (MONDO:equivalentTo)
  • UMLS:CN200302 (MONDO:equivalentTo)
  • GARD:0009860 (MONDO:shared-umls-xref)
  • Orphanet:1031 (OMIM:204690)
  • MESH:C538241 (Orphanet:1031/e)
  • DOID:0110066 (MONDO:equivalentTo)
  • GARD:0000646 (MONDO:equivalentTo)
Subsets

ordo_disease, ordo_malformation_syndrome

abbreviation
AIGFS [ DOID:0110066 ]

abbreviation
AI1G [ MONDO:Lexical DOID:0110066 OMIM:204690 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3537, https://github.com/monarch-initiative/mondo/issues/4521

definition

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

https://omim.org/entry/204690, http://identifiers.org/mesh/C538241, http://purl.obolibrary.org/obo/DOID_0110066, http://linkedlifedata.com/resource/umls/id/CN200302, http://identifiers.org/snomedct/109477002, http://purl.obolibrary.org/obo/Orphanet_171836, http://purl.obolibrary.org/obo/Orphanet_1031

excluded subClassOf

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

has exact synonym

AI1G, FAM20A amelogenesis imperfecta, enamel-renal syndrome, amelogenesis imperfecta, type IG (enamel-renal syndrome), ers, enamel-renal-gingival syndrome, amelogenesis imperfecta-gingival hyperplasia syndrome, AIGFS, amelogenesis imperfecta caused by mutation in FAM20A, amelogenesis imperfecta and gingival fibromatosis syndrome, amelogenesis imperfecta type IG, amelogenesis imperfecta hypoplastic with nephrocalcinosis

has related synonym

amelogenesis imperfecta, hypoplastic, with nephrocalcinosis, enamel renal syndrome, amelogenesis imperfecta, type IG, amelogenesis imperfecta and nephrocalcinosis, amelogenesis imperfecta nephrocalcinosis, amelogenesis imperfecta-nephrocalcinosis syndrome, generalized enamel hypoplasia and renal dysfunction, absent enamel, nephrocalcinosis and apparently normal calcium metabolism, amelogenesis imperfecta hypoplastic type, IG

id

MONDO:0008771