ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

Term ID

DOID:0060784

Synonyms

• 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

• MESH:C536189
• NCI:C148261
• OMIM:129900
• ORDO:1896
• SNOMEDCT_US_2023_03_01:39788007
• UMLS_CUI:C0406704

Ontology

Human Disease   ( DOID:0060784 )