Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Disease ID: disease_node_20584
Connections displayed (default: 10).
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| Dbxref | MIM:620199, UMLS_CUI:C5774293 |
|---|---|
| Subclassof | DOID_0050737, DOID_37 |
| Data Source | DOID |
| Synonyms | IPHAK, LIPHAK, LIPHAK syndrome |
| Doid Label | inflammatory poikiloderma with hair abnormalities and acral keratoses |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20584 |
| Doid Id | DOID_0070510 |
| Label | Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease)