| Metadata | |
|---|---|
| ID | DOID:0060784 |
| Name | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 |
| Definition | An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. https://www.ncbi.nlm.nih.gov/pubmed/1424230, https://www.ncbi.nlm.nih.gov/pubmed/5454938 |
| Xrefs |
SNOMEDCT_US_2023_03_01:39788007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
EEC syndrome 1 [EXACT] EEC1 [EXACT] |
| Parent Relationships |
is_a EEC syndrome |