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Melnick-Needles syndrome

Disease Summary
Associated Targets (15)
Tbio

8

Tclin

5

Tchem

2


Explore Associated Targets
Mondo Description Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Uniprot Description Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.
Mondo Term and Equivalent IDs
MONDO:0010650:  Melnick-Needles syndrome
DOID:0111788: 
GARD:0007011: 
Orphanet:2484: 
SCTID:13449007: 
UMLS:C0025237: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)