Search Ontology:
Human Disease
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
- Term ID
- DOID:0060784
- Synonyms
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- EEC syndrome 1
- EEC1
- Definition
- An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (2)
- References
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- MESH:C536189
- MIM:129900
- NCI:C148261
- ORDO:1896
- SNOMEDCT_US_2023_03_01:39788007
- UMLS_CUI:C0406704
- Ontology
- Human Disease ( DOID:0060784 )
- is a type of
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Genes Involved
Zebrafish Models