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hypotrichosis 12

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
Uniprot Description A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent.
Mondo Term and Equivalent IDs
MONDO:0014384:  hypotrichosis 12
UMLS:C4014563: