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apert syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Explore Associated Targets
Mondo Description Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
Uniprot Description A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.
Mondo Term and Equivalent IDs
MONDO:0007041:  apert syndrome
GARD:0005833: 
MESH:D000168: 
NCIT:C99099: 
Orphanet:87: 
SCTID:205258009: 
UMLS:C0001193: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found