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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/104530
http://purl.bioontology.org/ontology/OMIM/104530
|
|---|---|
| Preferred Name | AMELOGENESIS IMPERFECTA, TYPE IA |
| Synonyms |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
AI1A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
AI1A
|
|---|---|
| prefLabel | AMELOGENESIS IMPERFECTA, TYPE IA
|
| Gene Symbol |
JEB1B
AI1A
LAMB3
JEB1A
|
| Scope Statement | Teeth may undergo post-eruptive changes [MISCELLANEOUS]
Caused by mutation in the beta-3 laminin gene (LAMB3, 150310.0017) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 104530
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4011403
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |