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DO Term : inflammatory poikiloderma with hair abnormalities and acral keratoses [DOID:0070510] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • IPHAK,
  • LIPHAK,
  • LIPHAK syndrome,
  • OMIM:620199,
  • 620199,
  • UMLS_CUI:C5774293
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents