PORPHYRIA, CONGENITAL ERYTHROPOIETIC

GUNTHER DISEASE

http://purl.bioontology.org/ontology/OMIM/263700

GUNTHER DISEASE

UROPORPHYRINOGEN III SYNTHASE DEFICIENCY

CEP

UROS DEFICIENCY

C0162530

C2718078

10q25.2-q26.3

UROS

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU000146

http://purl.bioontology.org/ontology/OMIM/MTHU036374

http://purl.bioontology.org/ontology/OMIM/MTHU036754

http://purl.bioontology.org/ontology/OMIM/MTHU010016

http://purl.bioontology.org/ontology/OMIM/MTHU010014

http://purl.bioontology.org/ontology/OMIM/MTHU037883

http://purl.bioontology.org/ontology/OMIM/MTHU010010

http://purl.bioontology.org/ontology/OMIM/MTHU010020

http://purl.bioontology.org/ontology/OMIM/MTHU010024

http://purl.bioontology.org/ontology/OMIM/MTHU007306

http://purl.bioontology.org/ontology/OMIM/MTHU010018

http://purl.bioontology.org/ontology/OMIM/MTHU010022

http://purl.bioontology.org/ontology/OMIM/MTHU010012

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU036367

http://purl.bioontology.org/ontology/OMIM/MTHU006276

http://purl.bioontology.org/ontology/OMIM/MTHU010019

http://purl.bioontology.org/ontology/OMIM/MTHU001136

http://purl.bioontology.org/ontology/OMIM/MTHU010023

http://purl.bioontology.org/ontology/OMIM/MTHU010011

http://purl.bioontology.org/ontology/OMIM/MTHU010017

http://purl.bioontology.org/ontology/OMIM/MTHU010015

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU010021

Phenotype description, molecular basis known.

263700

3

pound

PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Onset at birth [MISCELLANEOUS]

Caused by mutation in the uroporphyrinogen III cosynthase gene (UROS, 606938.0001) [MOLECULAR BASIS]

Rare disorder [MISCELLANEOUS]

T047