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General Information
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| Term |
autosomal dominant tubulointerstitial kidney disease 2 |
ID (Ontology) |
DOID:0061118 (Human Disease) |
| Definition |
An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. |
| Also Known As |
"autosomal dominant medullary cystic kidney disease" ; "medullary cystic kidney disease 1" ; "medullary type polycystic kidneys" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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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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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal dominant tubulointerstitial kidney disease 2 | 1 | for disease ribbon | autosomal dominant tubulointerstitial kidney disease 2 | 1 | model of | autosomal dominant tubulointerstitial kidney disease 2 | 1 |
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Relationships