| Metadata | |
|---|---|
| ID | DOID:0060783 |
| Name | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/10535733, https://www.ncbi.nlm.nih.gov/pubmed/8737655 |
| Xrefs |
SNOMEDCT_US_2023_03_01:39788007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
EEC syndrome 3 [EXACT] EEC3 [EXACT] |
| Parent Relationships |
is_a EEC syndrome |