FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ID (Ontology) DOID:0060783 (Human Disease)
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.
Also Known As "EEC syndrome 3" ; "EEC3"
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 Genes
 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3       1
 for disease ribbon | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3       1
 model of | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
syndrome____________________|
                            EEC syndrome
                             |__ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  1 rec.
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Is a EEC syndrome
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Synonyms
  • "EEC syndrome 3" EXACT
    "EEC3" EXACT OMO:0003012
Secondary IDs
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MESH:C536189
MIM:604292
NCI:C148261
ORDO:1896
SNOMEDCT_US_2023_03_01:39788007
UMLS_CUI:C0406704