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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
acute porphyria +     
digenic disease +     
Hepatic Porphyrias +     
acrocallosal syndrome +   
acute intermittent porphyria +   
ALAD-Deficiency Porphyria  
AMED syndrome  
autosomal recessive nonsyndromic deafness 1A  
autosomal-mitochondrial sensorineural deafness  
craniosynostosis 7  
dyskeratosis congenita +   
erythropoietic protoporphyria +   
facioscapulohumeral muscular dystrophy 2  
facioscapulohumeral muscular dystrophy 3  
facioscapulohumeral muscular dystrophy 4  
hepatoerythropoietic porphyria  
hereditary coproporphyria +   
An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
hereditary hypophosphatemic rickets with hypercalciuria  
iminoglycinuria  
Joubert syndrome 15  
Joubert syndrome 9  
long QT syndrome 1  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
methylmalonic aciduria and homocystinuria type cblC  
ocular albinism with sensorineural deafness  
oculocutaneous albinism type IB  
Parkinson's disease 6  
porphyria cutanea tarda +   
primary pulmonary hypertension +   
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
retinitis pigmentosa 7  
short-rib thoracic dysplasia 7 with or without polydactyly  
spinocerebellar ataxia type 17  
Usher syndrome type 1D +   
Usher syndrome type 2C  
variegate porphyria +   
Waardenburg syndrome type 2A  

Synonyms
Exact Synonyms: CPO deficiency ;   CPOX deficiency ;   CPOX-RELATED CONDITION ;   CPOX-RELATED DISORDERS ;   Coproporphyria ;   HCP ;   Porphyria Hepatica, Coproporphyria ;   coproporphyrinogen oxidase deficiency ;   hereditary coproporphyria porphyria ;   porphyria hepatica II
Narrow Synonyms: COPROPORPHYRIA, DIGENIC ;   CPX DEFICIENCY HARDEROPORPHYRIA
Primary IDs: MESH:C535469 ;   MESH:D046349
Alternate IDs: DOID:9005794 ;   MIM:121300 ;   RDO:0000598
Xrefs: GARD:6619 ;   ICD10CM:E80.29 ;   NCI:C84759
Definition Sources: MESH:D046349

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