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umls-concept:C0162530 | calbc:hasCorrelation | calbc-group:PHEN | lld:calbc |
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umls-concept:C0162530 | calbc:hasCorrelation | calbc-group:CHEM | lld:calbc |
umls-concept:C0162530 | skos:exactMatch | pubmed-mesh:Porphyria... | lld:mappings |
umls-concept:C0162530 | skos:definition | MSH: An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.,CSP: autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.,NCI: A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas. | lld:umls |
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umls-concept:C0162530 | skos:broader | umls-concept:C0019247 | lld:umls |
umls-concept:C0162530 | skos:broader | umls-concept:C0032708 | lld:umls |
umls-concept:C0162530 | skos:broader | umls-concept:C0596362 | lld:umls |
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umls-concept:C0162530 | skos-xl:altLabel | umls-label:A17922237 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A18596240 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0443571 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0291005 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0291009 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A17683460 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A17946125 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0290998 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0468526 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A1190749 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A17946126 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0290999 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0417688 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A18633441 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A17994183 | lld:umls |
umls-concept:C0162530 | skos-xl:altLabel | umls-label:A0290997 | lld:umls |
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umls-concept:C0162530 | skos-xl:altLabel | umls-label:A17994184 | lld:umls |
umls-concept:C0162530 | umls:relation | http://linkedlifedata.com/r... | lld:umls |
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