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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620104
http://purl.bioontology.org/ontology/OMIM/620104
|
|---|---|
| Preferred Name | AMELOGENESIS IMPERFECTA, TYPE IK |
| Synonyms |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK
AI1K
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK
AI1K
|
|---|---|
| prefLabel | AMELOGENESIS IMPERFECTA, TYPE IK
|
| Gene Symbol |
SP6
KLF14
AI1K
EPFN
|
| Scope Statement | Caused by mutation in the transcription factor Sp6 gene (SP6, 608613.0001) [MOLECULAR BASIS]
One large British family and one patient have been described (last curated October 2022) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 17q21.32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620104
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774246
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |