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| Term | erythrokeratodermia variabilis | ID (Ontology) | DOID:0050467 (Human Disease) |
| Definition | A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. | ||
| Also Known As | "Erythrokeratodermia Figurata Variabilis" ; "Greither Disease" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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integumentary system disease |__skin disease_______ genetic disease | |__monogenic disease__| erythrokeratodermia variabilis 10 rec. |__erythrokeratodermia variabilis et progressiva 1 2 rec. |__erythrokeratodermia variabilis et progressiva 2 |__erythrokeratodermia variabilis et progressiva 3 |__erythrokeratodermia variabilis et progressiva 4 1 rec. |__erythrokeratodermia variabilis et progressiva 5 |__erythrokeratodermia variabilis et progressiva 6 1 rec. |
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monogenic disease skin disease |
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MESH:D056266 MIM:PS133200 NCI:C84696 ORDO:317 SNOMEDCT_US_2023_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 |
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