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hypotrichosis 2

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.
Uniprot Description A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.
Disease Ontology Description A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33.
Mondo Term and Equivalent IDs
MONDO:0007805:  hypotrichosis 2
MESH:C564143: