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 1 ID (Ontology) DOID:0060784 (Human Disease)
Definition An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3.
Also Known As "EEC syndrome 1" ; "EEC1"
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autosomal dominant disease__
syndrome____________________|
                            EEC syndrome
                             |__ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
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Is a EEC syndrome
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Synonyms
  • "EEC syndrome 1" EXACT
    "EEC1" EXACT OMO:0003012
Secondary IDs
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MESH:C536189
MIM:129900
NCI:C148261
ORDO:1896
SNOMEDCT_US_2023_03_01:39788007
UMLS_CUI:C0406704