ADULT syndrome
Information
- Disease name
- ADULT syndrome
- Disease ID
- DOID:0050601
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/16114047/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02160561 | Completed | N/A | Feasibility of Upright Bed Position in ARDS Patients | April 2013 | June 2015 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:384
- Cross Reference ID (Disease Ontology)
- MIM:103285
- Exact Synonym (Disease Ontology)
- acro-dermato-ungual-lacrimal-tooth syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 978