| Metadata | |
|---|---|
| ID | DOID:0070510 |
| Name | inflammatory poikiloderma with hair abnormalities and acral keratoses |
| 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. https://pubmed.ncbi.nlm.nih.gov/34999892/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620199 exactMatch UMLS_CUI:C5774293 |
| Subsets |
DO_rare_slim |
| Synonyms |
IPHAK [EXACT] LIPHAK [EXACT] LIPHAK syndrome [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |