ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Information
- Disease name
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Disease ID
- DOID:0090119
- Description
- "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27." [url:https\://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29339502, url:https\://www.ncbi.nlm.nih.gov/pubmed/29956718, url:https\://www.omim.org/entry/106260]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2121
- Cross Reference ID (Disease Ontology)
- MESH:C535289
- Cross Reference ID (Disease Ontology)
- MIM:106260
- Cross Reference ID (Disease Ontology)
- ORDO:1071
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:7731005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1785148
- Exact Synonym (Disease Ontology)
- AEC syndrome
- Exact Synonym (Disease Ontology)
- ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
- Exact Synonym (Disease Ontology)
- Hay-Wells syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 1071