hypotrichosis 14

Term ID

DOID:0080582

Synonyms

Definition

A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/30401459

References

• MIM:618275

Ontology

Human Disease   ( DOID:0080582 )