Term Name: inflammatory poikiloderma with hair abnormalities and acral keratoses
Synonyms: IPHAK, LIPHAK, LIPHAK syndrome
Definition: A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2.
Ontology: Human Disease [DOID:0070510]   ( DOID:0070510 )

Relationships
is a type of: autosomal recessive disease skin disease