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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Rare genetic renal disease
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Accession:EFO:Orphanet:98056 term browser browse the term
Synonyms:external_ontology: has_disease_location EFO:UBERON:0001008


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          urinary system disease 0
            Rare genetic renal disease 0
              17q11 microdeletion syndrome 0
              Acute hepatic porphyria + 0
              Adult familial nephronophthisis - spastic quadriparesia 0
              Alpha-1-antitrypsin deficiency 0
              Autosomal dominant medullary cystic kidney disease with hyperuricemia 0
              Autosomal dominant polycystic kidney disease + 0
              Autosomal recessive infantile hypercalcemia 0
              Brachydactyly - arterial hypertension 0
              Congenital disorder of glycosylation with nephropathy as a major feature 0
              Congenital erythropoietic porphyria 0
              Familial porphyria cutanea tarda + 0
              Genetic glomerular disease + 0
              Genetic renal or urinary tract malformation + 0
              Genetic renal tubular disease + 0
              Genetic thrombotic microangiopathy 0
              Glycogen storage disease due to glucose-6-phosphatase deficiency + 0
              Gräsbeck-Imerslund disease 0
              Hematological disorder with renal involvement + 0
              Hepatic fibrosis - renal cysts - intellectual disability 0
              Infantile nephronophthisis 0
              Juvenile cataract - microcornea - renal glucosuria 0
              Juvenile nephronophthisis 0
              Juvenile nephropathic cystinosis 0
              Neurofibromatosis type 1 due to NF1mutation or intragenic deletion 0
              Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 0
              Pseudoxanthoma elasticum 0
              Renal glucosuria 0
              Tyrosinemia type 1 0
              Vitamin B12-responsive methylmalonic acidemia type cblA 0
              Vitamin B12-responsive methylmalonic acidemia type cblB 0
              X-linked erythropoietic protoporphyria 0
              Zellweger syndrome 0
              sialidosis type II + 0
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