UniProtKB/Swiss-Prot:
73
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. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected.
MalaCards based summary:
Hypotrichosis 11, also known as hypt11, is related to hypotrichosis 1 and woolly hair, autosomal recessive 3. An important gene associated with Hypotrichosis 11 is SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E), and among its related pathways/superpathways is Keratinization. Related phenotypes are sparse hair and alopecia universalis
Disease Ontology:
11
A hypotrichosis that has material basis in a autosomal dominant mutation of SNRPE on chromosome 1q32.1.