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Disease Ontology Browser
inflammatory poikiloderma with hair abnormalities and acral keratoses (DOID:0070510)
Alliance: disease page
Synonyms: IPHAK; LIPHAK; LIPHAK syndrome
Alt IDs: OMIM:620199, UMLS_CUI:C5774293
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory