About: amelogenesis imperfecta type 1G     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
description
  • Krankheit (de)
  • مرض يصيب الإنسان (ar)
  • хвороба (uk)
  • amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24 (en)
exact match
exact match
health specialty
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0008771
Disease Ontology ID
  • DOID:0110066
rdfs:label
  • amelogenesis imperfecta type 1G (en)
  • amélogenèse imparfaite type 1G (fr)
skos:prefLabel
  • amelogenesis imperfecta type 1G (en)
  • amélogenèse imparfaite type 1G (fr)
name
  • amelogenesis imperfecta type 1G (en)
  • amélogenèse imparfaite type 1G (fr)
instance of
instance of
subclass of
subclass of
Google Knowledge Graph ID
Google Knowledge Graph ID
Google Knowledge Graph ID
  • /g/11gtg86mtn
UniProt disease ID
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-04208
Orphanet ID
  • 1031
ICD-9-CM
  • 520.5
genetic association
ICD-10-CM
  • K00.5
GARD rare disease ID
  • 9860
  • 646
OMIM ID
  • 204690
skos:altLabel
  • ERS (en)
  • amelogenesis imperfecta and gingival fibromatosis syndrome (en)
  • amelogenesis imperfecta hypoplastic with nephrocalcinosis (en)
  • AI1G (en)
  • AIGFS (en)
  • AMELOGENESIS IMPERFECTA, TYPE IG (en)
  • AMELOGENESIS IMPERFECTA, TYPE IG; AI1G (en)
  • Amelogenesis imperfecta-nephrocalcinosis syndrome (en)
  • Enamel-renal syndrome (en)
  • amelogenesis imperfecta type IG (en)
  • enamel-renal syndrome (en)
  • enamel-renal-gingival syndrome (en)
  • Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis (en)
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
UMLS CUI
  • C0403549
  • C2931783
MeSH descriptor ID
  • C538241
on focus list of Wikimedia project
WikiProjectMed ID
WikiProjectMed ID
  • Enamel-renal syndrome
is owl:sameAs of
is about of
is genetic association of
is genetic association of
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