OBO ID: DOID:0060783
Term Name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Search Ontology:
Synonyms:
  • 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. (2)
References:
Ontology: Human Disease   (DOID:0060783)
Relationships
is a type of:
OTHER ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TP63 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None