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Metadata
DOID DOID:0060783
Name ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
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.
https://www.ncbi.nlm.nih.gov/pubmed/10535733, https://www.ncbi.nlm.nih.gov/pubmed/8737655
Synonyms

EEC syndrome 3 [EXACT]

EEC3 [EXACT]

Xrefs

MESH:C536189

OMIM:604292

ORDO:1896

SNOMEDCT_US_2018_03_01:39788007

UMLS_CUI:C0406704

Relationships

is_a EEC syndrome

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