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hypotrichosis 7

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.
Uniprot Description A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.
Mondo Term and Equivalent IDs
MONDO:0011452:  hypotrichosis 7
EFO:0009163: 
GARD:0008178: 
MESH:C536973: