You are using an outdated browser. Please upgrade your browser to improve your experience.

congenital hypotrichosis with juvenile macular dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Uniprot Description A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life.
Mondo Term and Equivalent IDs
MONDO:0011107:  congenital hypotrichosis with juvenile macular dystrophy
GARD:0003066: 
MESH:C537698: 
Orphanet:1573: 
UMLS:C1832162: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found