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Catel-Manzke syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
Uniprot Description A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia).
Mondo Term and Equivalent IDs
MONDO:0014507:  Catel-Manzke syndrome
GARD:0000028: 
MESH:C535347: 
Orphanet:1388: 
SCTID:722383001: 
UMLS:C1844887: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found