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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301201
http://purl.bioontology.org/ontology/OMIM/301201
|
|---|---|
| Preferred Name | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 |
| Synonyms |
ENAMEL HYPOPLASIA, X-LINKED 2
AIH3, FORMERLY
AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ENAMEL HYPOPLASIA, X-LINKED 2
AIH3, FORMERLY
AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY
|
|---|---|
| prefLabel | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2
|
| Gene Symbol |
AI1E2
AIH3
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | Xq22-q28
|
| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| notation | 301201
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1845051
|
| OMIM Entry Type | 5
|
| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |