MeSH Browser

MeSH Heading: Porphyria, Erythropoietic
Tree Number(s): C16.320.850.738; C17.800.827.738; C18.452.811.250
Unique ID: D017092
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D017092
Annotation: do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC
Scope Note: 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.
Entry Term(s): Congenital Erythropoietic Porphyria; Deficiency of Uroporphyrinogen III Synthase; Erythropoietic Porphyria; Gunther Disease; Gunther's Disease; Porphyria, Congenital Erythropoietic; Porphyria, Erythropoietic, Congenital; UROS Deficiency; Uroporphyrinogen III Synthase, Deficiency of
Previous Indexing: Porphyria (1966-1992)
See Also: Uroporphyrinogen III Synthetase
Public MeSH Note: 1993
History Note: 1993
Date Established: 1993/01/01
Date of Entry: 1992/05/22
Revision Date: 2015/06/05

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0025969
Scope Note: 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.
Terms: Porphyria, Erythropoietic Preferred Term
Term UI T051030
Date01/01/1999
LexicalTag NON
ThesaurusID NLM (1993); Erythropoietic Porphyria
Term UI T051029
Date10/16/1991
LexicalTag NON
ThesaurusID NLM (1993); Porphyria, Erythropoietic, Congenital
Term UI T051028
Date10/01/1991
LexicalTag NON
ThesaurusID NLM (1993); Gunther's Disease
Term UI T051026
Date10/01/1991
LexicalTag EPO
ThesaurusID NLM (1993); Porphyria, Congenital Erythropoietic
Term UI T812049
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Congenital Erythropoietic Porphyria
Term UI T051027
Date10/01/1991
LexicalTag NON
ThesaurusID; Gunther Disease
Term UI T051025
Date10/01/1991
LexicalTag EPO
ThesaurusID

Porphyria, Erythropoietic MeSH Descriptor Data 2024