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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612529
http://purl.bioontology.org/ontology/OMIM/612529
|
|---|---|
| Preferred Name | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 |
| Synonyms |
AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2
AI2A2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2
AI2A2
|
|---|---|
| prefLabel | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2
|
| Gene Symbol |
AI2A2
MMP20
|
| Scope Statement | Caused by mutation in the matrix metalloproteinase-20 gene (MMP20, 604629.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q22.3-q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612529
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2675858
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |