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hypotrichosis 6

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.
Uniprot Description 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 disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed.
Disease Ontology Description A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1.
Mondo Term and Equivalent IDs
MONDO:0011932:  hypotrichosis 6
MESH:C564312: 
UMLS:C1842839: