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Nestor-Guillermo progeria syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies.
Mondo Term and Equivalent IDs
MONDO:0013523:  Nestor-Guillermo progeria syndrome
GARD:0011008: 
Orphanet:280576: 
UMLS:C3151446: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found