|
General Information
|
| Term |
ADULT syndrome |
ID (Ontology) |
DOID:0050601 (Human Disease) |
| Definition |
A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. |
| Also Known As |
"acro-dermato-ungual-lacrimal-tooth syndrome" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
ADULT syndrome | 1 | for disease ribbon | ADULT syndrome | 1 | model of | ADULT syndrome | 1 |
|