|
General Information
|
| Term |
inflammatory poikiloderma with hair abnormalities and acral keratoses |
ID (Ontology) |
DOID:0070510 (Human Disease) |
| 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. |
| Also Known As |
"IPHAK" ; "LIPHAK" ; "LIPHAK syndrome" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
inflammatory poikiloderma with hair abnormalities and acral keratoses | 1 | for disease ribbon | inflammatory poikiloderma with hair abnormalities and acral keratoses | 1 | model of | inflammatory poikiloderma with hair abnormalities and acral keratoses | 1 |
|
Relationships