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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/313500
http://purl.bioontology.org/ontology/OMIM/313500
|
|---|---|
| Preferred Name | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 |
| Synonyms |
HYPODONTIA/OLIGODONTIA, X-LINKED, 1
STHAGX1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HYPODONTIA/OLIGODONTIA, X-LINKED, 1
STHAGX1
|
|---|---|
| prefLabel | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1
|
| Gene Symbol |
ED1
STHAGX1
EDA
ECTD1
HED1
|
| notation | 313500
|
| Scope Statement | Caused by mutation in the ectodysplasin A gene (EDA, 300451.0014) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 300606
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | Xq12-q13.1
|
| tui | T047
|
| cui | C1970757
|
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