hypotrichosis 14

Summary
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.
Super Class
hypotrichosis
External Links
Disease Ontology
DOID:0080582
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4047 LSS lanosterol synthase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P48449 Lanosterol synthase
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0001596 Alopecia
HP:0002231 Sparse body hair
HP:0000653 Sparse eyelashes
HP:0008070 Sparse hair
HP:0002209 Sparse scalp hair
HP:0002221 Absent axillary hair
HP:0000007 Autosomal recessive inheritance
HP:0003577 Congenital onset
HP:0010764 Short eyelashes
HP:0002225 Sparse pubic hair
Displaying 1 entry
Gene ID Gene Symbol Description
4047 LSS lanosterol synthase

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Last updated: August 19, 2024