Disease #03187 (porphyria, acute hepatic, OMIM:612740)

Official abbreviation -
Name porphyria, acute hepatic
OMIM ID 612740
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 2
Associated with 1 gene ALAD
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00315858 171134 - - M ? Germany - - - - - porphyria, acute hepatic Increased fecal porphyrin, clinically known porphyria, skin and liver manifestations, daughter also affected UROD UROD 1 1 Andreas Laner
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