ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Information
- Disease name
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- Disease ID
- DOID:0060783
- Description
- "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10535733, url:https\://www.ncbi.nlm.nih.gov/pubmed/8737655]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060782
- Cross Reference ID (Disease Ontology)
- MESH:C536189
- Cross Reference ID (Disease Ontology)
- MIM:604292
- Cross Reference ID (Disease Ontology)
- NCI:C148261
- Cross Reference ID (Disease Ontology)
- ORDO:1896
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:39788007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0406704
- Exact Synonym (Disease Ontology)
- EEC syndrome 3
- Exact Synonym (Disease Ontology)
- EEC3