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hereditary hypotrichosis with recurrent skin vesicles

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Uniprot Description A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent.
Mondo Term and Equivalent IDs
MONDO:0013136:  hereditary hypotrichosis with recurrent skin vesicles
MESH:C567751: 
Orphanet:217407: 
SCTID:724350009: 
UMLS:C2751292: