loading...| Preferred Name |
amelogenesis imperfecta type 1G |
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| Synonyms |
amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta-nephrocalcinosis syndrome generalised enamel hypoplasia and renal dysfunction enamel renal syndrome amelogenesis imperfecta, hypoplastic, with nephrocalcinosis generalized enamel hypoplasia and renal dysfunction amelogenesis imperfecta hypoplastic type, IG absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta, type IG amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta, type IG (enamel-renal syndrome) enamel-renal-gingival syndrome FAM20A amelogenesis imperfecta AIGFS amelogenesis imperfecta-gingival hyperplasia syndrome amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta type IG enamel-renal syndrome AI1G ers |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008771 |
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| database_cross_reference |
ICD9:520.5 Orphanet:171836 OMIM:204690 MESH:C538241 SCTID:109477002 DOID:0110066 GARD:646 UMLS:C2931783 Orphanet:1031 OMIM:614253 |
|
| 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_1031 http://identifiers.org/snomedct/109477002 http://purl.obolibrary.org/obo/DOID_0110066 |
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| has_exact_synonym |
amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta, type IG (enamel-renal syndrome) enamel-renal-gingival syndrome FAM20A amelogenesis imperfecta AIGFS amelogenesis imperfecta-gingival hyperplasia syndrome amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta type IG enamel-renal syndrome AI1G ers |
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| has_related_synonym |
amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta-nephrocalcinosis syndrome generalised enamel hypoplasia and renal dysfunction enamel renal syndrome amelogenesis imperfecta, hypoplastic, with nephrocalcinosis generalized enamel hypoplasia and renal dysfunction amelogenesis imperfecta hypoplastic type, IG absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta, type IG |
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| IAO_0000233 | ||
| id |
MONDO:0008771 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
amelogenesis imperfecta type 1G |
|
| notation |
MONDO:0008771 |
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| preferred label |
amelogenesis imperfecta type 1G |
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| prefLabel |
amelogenesis imperfecta type 1G |
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| excluded_subClassOf | ||
| subClassOf |