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cleft lip/palate-ectodermal dysplasia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Uniprot Description An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.
Disease Ontology Description An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.
Mondo Term and Equivalent IDs
MONDO:0009151:  cleft lip/palate-ectodermal dysplasia syndrome
GARD:0000375: 
GARD:0001045: 
NCIT:C122656: 
Orphanet:320317: 
Orphanet:3253: 
SCTID:716248001: 
UMLS:CN229116: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)