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Frank-Ter Haar syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Uniprot Description A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers.
Mondo Term and Equivalent IDs
MONDO:0009579:  Frank-Ter Haar syndrome
DOID:0111789: 
GARD:0005138: 
MESH:C537274: 
Orphanet:137834: 
SCTID:720958002: 
UMLS:C1855305: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)