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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Summary
- Synonym
-
- EEC syndrome 3
- EEC3
- 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.
- Super Class
- EEC syndrome
External Links
- Disease Ontology
- DOID:0060783
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2023 | ENO1 | enolase 1 | |
| 3938 | LCT | lactase | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog |
Related Glycoprotein
