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loading...| Preferred Name |
amelogenesis imperfecta type 1G |
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| Synonyms |
AI1G |
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| Definitions |
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110066 |
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| database_cross_reference |
ICD10CM:K00.5 OMIM:204690 ORDO:1031 |
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| definition |
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. |
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| has exact synonym |
AI1G amelogenesis imperfecta type IG ERS AIGFS amelogenesis imperfecta and gingival fibromatosis syndrome enamel-renal-gingival syndrome enamel-renal syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0110066 |
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| in_subset | ||
| label |
amelogenesis imperfecta type 1G |
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| notation |
DOID:0110066 |
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| prefLabel |
amelogenesis imperfecta type 1G |
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| subClassOf |
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