loading...| 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-gingival hyperplasia syndrome amelogenesis imperfecta, type IG (enamel-renal syndrome) amelogenesis imperfecta, type IG AI1G FAM20A amelogenesis imperfecta amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta and gingival fibromatosis syndrome generalized enamel hypoplasia and renal dysfunction enamel-renal syndrome ers amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta type IG amelogenesis imperfecta-nephrocalcinosis syndrome amelogenesis imperfecta, hypoplastic, with nephrocalcinosis amelogenesis imperfecta hypoplastic type, IG enamel-renal-gingival syndrome enamel renal syndrome AIGFS |
| Definitions |
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 UMLS:CN200302 Orphanet:1031 SCTID:109477002 DOID:0110066 OMIM:614253 ICD9:520.5 Orphanet:171836 GARD:0009860 |
| 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 |
http://identifiers.org/snomedct/109477002 http://linkedlifedata.com/resource/umls/id/CN200302 http://purl.obolibrary.org/obo/DOID_0110066 |
| has characteristic | |
| has_exact_synonym |
amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta-gingival hyperplasia syndrome amelogenesis imperfecta, type IG (enamel-renal syndrome) AI1G FAM20A amelogenesis imperfecta amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta and gingival fibromatosis syndrome enamel-renal syndrome ers amelogenesis imperfecta type IG enamel-renal-gingival syndrome AIGFS |
| has_related_synonym |
amelogenesis imperfecta and nephrocalcinosis absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta, type IG generalized enamel hypoplasia and renal dysfunction amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta-nephrocalcinosis syndrome amelogenesis imperfecta, hypoplastic, with nephrocalcinosis amelogenesis imperfecta hypoplastic type, IG enamel renal syndrome |
| IAO_0000233 | |
| 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 | |
| subClassOf | |
| excluded subClassOf |