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Carey-Fineman-Ziter syndrome

Disease Summary
Associated Targets (1)
Tdark

1


Explore Associated Targets
Mondo Description Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
Uniprot Description An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.
Disease Ontology Description A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.
Mondo Term and Equivalent IDs
MONDO:0009700:  Carey-Fineman-Ziter syndrome
GARD:0003889: 
MESH:C536102: 
Orphanet:1358: 
SCTID:429753001: 
UMLS:C1850746: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)