| protocoproporphyria hereditaria | Porphyria characterised by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased faecal excretion of proto-and coproporphyrin, and by increased urinary excretion of d-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance. Synonym: protocoproporphyria hereditaria, South African type porphyria. (05 Mar 2000) |
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| protocoproporphyria | Enhanced faecal excretion of proto-and coproporphyrins. (05 Mar 2000) |
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| adynamia episodica hereditaria | Hyperkalaemic periodic paralysis, without myotonia. (05 Mar 2000) |
| porphyria cutanea tarda hereditaria | A form of hepatic porphyria (porphyria, hepatic) characterised by photosensitivity resulting in bullae that rupture easily to form shallow ulcers. This condition occurs in two forms: a sporadic, nonfamilial form that begins in middle age and has normal amounts of uroporphyrinogen decarboxylase with diminished activity in the liver; and a familial form in which there is an autosomal dominant inherited deficiency of uroporphyrinogen decarboxylase in the liver and red blood cells. (12 Dec 1998) |
| syphilis hereditaria | <radiology> Wimberger sign, periostitis, part of ToRCHS complex (12 Dec 1998) |
| syphilis hereditaria tarda | Syphilis, believed to be congenital, but not manifesting itself until several years after birth. (05 Mar 2000) |