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floating-Harbor syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Uniprot Description A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.
Mondo Term and Equivalent IDs
MONDO:0007621:  floating-Harbor syndrome
DOID:0111358: 
GARD:0006455: 
MESH:C537062: 
Orphanet:2044: 
SCTID:312214005: 
UMLS:C0729582: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)